AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsHumanitiesInformation ScienceHealth CareGeographicals
Cobblestone LissencephalyLissencephalyCredentialingCertificationPublic HealthPublic Health NursingRegistriesMedical Staff PrivilegesGenetic TestingDystroglycansMuscular DystrophiesGerm LayersHydrocephalusMuscular Dystrophy, AnimalMuscle SpasticityEncyclopedias as Topic1-Alkyl-2-acetylglycerophosphocholine EsterasePsychomotor DisordersNervous System MalformationsMalformations of Cortical DevelopmentEpilepsyEpilepsies, PartialGangliogliomaNeoplasms, NeuroepithelialCerebral CortexGenome-Wide Association StudyIntracranial AneurysmConnecticutLiterature, ModernPolymorphism, Single NucleotideGenetic LociGenetic Predisposition to DiseaseNeurosciencesLionsReceptors, G-Protein-CoupledNeuronal Migration DisordersGenes, RecessiveClassical Lissencephalies and Subcortical Band HeterotopiasSpasms, InfantileRare DiseasesMuscle HypertoniaDictionaries, MedicalDictionaries as Topic
Cobblestone Lissencephaly
The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.
Lissencephaly
A "smooth brain" malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.
Credentialing
The recognition of professional or technical competence through registration, certification, licensure, admission to association membership, the award of a diploma or degree, etc.
Certification
Compliance with a set of standards defined by non-governmental organizations. Certification is applied for by individuals on a voluntary basis and represents a professional status when achieved, e.g., certification for a medical specialty.
Public Health
Branch of medicine concerned with the prevention and control of disease and disability, and the promotion of physical and mental health of the population on the international, national, state, or municipal level.
Public Health Nursing
A nursing specialty concerned with promoting and protecting the health of populations, using knowledge from nursing, social, and public health sciences to develop local, regional, state, and national health policy and research. It is population-focused and community-oriented, aimed at health promotion and disease prevention through educational, diagnostic, and preventive programs.
Registries
The systems and processes involved in the establishment, support, management, and operation of registers, e.g., disease registers.
Medical Staff Privileges
Those rights or activities which are specific to members of the institution's medical staff, including the right to admit private patients.
Genetic Testing
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Dystroglycans
Dystrophin-associated proteins that play role in the formation of a transmembrane link between laminin-2 and DYSTROPHIN. Both the alpha and the beta subtypes of dystroglycan originate via POST-TRANSLATIONAL PROTEIN PROCESSING of a single precursor protein.
Muscular Dystrophies
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
Germ Layers
The three primary germinal layers (ECTODERM; ENDODERM; and MESODERM) developed during GASTRULATION that provide tissues and body plan of a mature organism. They derive from two early layers, hypoblast and epiblast.
Hydrocephalus
Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.
Muscular Dystrophy, Animal
Muscle Spasticity
A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
Encyclopedias as Topic
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
1-Alkyl-2-acetylglycerophosphocholine Esterase
A lipoprotein-associated PHOSPHOLIPASE A2 which modulates the action of PLATELET ACTIVATING FACTOR by hydrolyzing the SN-2 ester bond to yield the biologically inactive lyso-platelet-activating factor. It has specificity for phospholipid substrates with short-chain residues at the SN-2 position, but inactive against long-chain phospholipids. Deficiency in this enzyme is associated with many diseases including ASTHMA, and HYPERCHOLESTEROLEMIA.
Psychomotor Disorders
Abnormalities of motor function that are associated with organic and non-organic cognitive disorders.
Nervous System Malformations
Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
Malformations of Cortical Development
Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.
Epilepsy
A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
Epilepsies, Partial
Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)
Ganglioglioma
Rare indolent tumors comprised of neoplastic glial and neuronal cells which occur primarily in children and young adults. Benign lesions tend to be associated with long survival unless the tumor degenerates into a histologically malignant form. They tend to occur in the optic nerve and white matter of the brain and spinal cord.
Neoplasms, Neuroepithelial
Neoplasms composed of neuroepithelial cells, which have the capacity to differentiate into NEURONS, oligodendrocytes, and ASTROCYTES. The majority of craniospinal tumors are of neuroepithelial origin. (From Dev Biol 1998 Aug 1;200(1):1-5)
Cerebral Cortex
The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulchi. It reaches its highest development in humans and is responsible for intellectual faculties and higher mental functions.
Genome-Wide Association Study
An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.
Intracranial Aneurysm
Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)
Connecticut
Literature, Modern
Polymorphism, Single Nucleotide
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Genetic Loci
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Genetic Predisposition to Disease
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Neurosciences
The scientific disciplines concerned with the embryology, anatomy, physiology, biochemistry, pharmacology, etc., of the nervous system.
Lions
Large, chiefly nocturnal mammals of the cat family FELIDAE, species Panthera leo. They are found in Africa and southern Asia.
Receptors, G-Protein-Coupled
The largest family of cell surface receptors involved in SIGNAL TRANSDUCTION. They share a common structure and signal through HETEROTRIMERIC G-PROTEINS.
Neuronal Migration Disorders
Disorders resulting from defects in migration of neuronal cells during neurogenesis. Developing nerve cells either fail to migrate or they migrate to incorrect positions resulting in formation of heterotopias, lissencephaly, or other malformations and dysfunctions of the nervous system.
Genes, Recessive
Genes that influence the PHENOTYPE only in the homozygous state.
Classical Lissencephalies and Subcortical Band Heterotopias
Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)
Spasms, Infantile
An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)
Rare Diseases
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
Muscle Hypertonia
Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES.
Dictionaries, Medical
Dictionaries as Topic
Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.

Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly. (1/8)

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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. (2/8)

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Midbrain-hindbrain involvement in lissencephalies. (3/8)

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Neurons generated from APP/APLP1/APLP2 triple knockout embryonic stem cells behave normally in vitro and in vivo: lack of evidence for a cell autonomous role of the amyloid precursor protein in neuronal differentiation. (4/8)

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GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. (5/8)

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G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination. (6/8)

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Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. (7/8)

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Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. (8/8)

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Plus itPlus it
Abnormal posttranslational processing of dystroglycan is associated with congenital muscular dystrophies with CNS involvement ranging from mental retardation to structural defects, including cobblestone (type II) lissencephaly and hydrocephalus (Muntoni and Voit, 2004; Barresi and Campbell, 2006). Defects in neuron migration that resemble cobblestone lissencephaly also occur in mice with tissue-specific deletion of dystroglycan (Moore et al., 2002; Satz et al., 2008). Prior studies indicate that dystroglycan is broadly expressed in neurons and glia of the developing and adult brain (Zaccaria et al., 2001; Henion et al., 2003; Ohtsuka-Tsurumi et al., 2004); however, little is known about its cellular functions. In this study we provide genetic evidence of distinct roles for glial dystroglycan in development, and for neuronal dystroglycan in synaptic plasticity.. We previously showed that MOX2-Cre mediated deletion of dystroglycan (MORE-DG-null) in all epiblast-derived tissues produces severe ...
http://www.jneurosci.org/content/30/43/14560
JoVE Author Search: Abdenur JEJoVE Author Search: Abdenur JE
Patients, Family, Newborn, Screening, Mutations, Mass Spectrometry, Newborns, Spectrometry, Tandem Mass Spectrometry, Urine, Infants, Water, Alpha-dystroglycan, Biopsy, Brothers, Cobblestone Lissencephaly, Dystroglycan, Fukuyama Congenital Muscular Dystrophy, Gene, Glycosylation
http://labindex.jove.com/author/Abdenur-JE
Gene Expression Literature DetailGene Expression Literature Detail
J:134970 Inoue T, Ogawa M, Mikoshiba K, Aruga J, Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly. J Neurosci. 2008 Apr 30;28(18):4712-25 ...
http://www.informatics.jax.org/gxdlit/key/77073
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants. Eur J Med Genet. 2018 Nov 13;: Authors: Mancini C, Zonta A, Botta G, Klobus AB, Valbonesi S, Pasini B, Giorgio E, Viora E, Brusco A, Brussino A Abstract Microphthalmia with limb anomalies (MLA, OMIM, 206920) is a rare autosomal-recessive disease caused ...
https://medworm.com/627725762/a-fetal-case-of-microphthalmia-and-limb-anomalies-with-abnormal-neuronal-migration-associated-with-s/
abnormal cortical marginal zone morphology Mammalian Phenotype Term (MP:0000792)abnormal cortical marginal zone morphology Mammalian Phenotype Term (MP:0000792)
The Mammalian Phenotype (MP) Ontology is a community effort to provide standard terms for annotating phenotypic data. You can use this browser to view terms, definitions, and term relationships in a hierarchical display. Links to summary annotated phenotype data at MGI are provided in Term Detail reports.
http://www.informatics.jax.org/vocab/mp_ontology/MP:0000792
solid cobblestone to crushed cobblestone conversion - SeeKingsolid cobblestone to crushed cobblestone conversion - SeeKing
In a world (seemingly) filled with solid concrete and asphalt driveways, the stone can seem downright quaint.Perhaps thats because it pretty much epitomizes the idea of quaint. Stone has been used on driveways, walkways, and paths of all kinds for centuries.And, though it makes for one of the least expensive driveway options, a nicely designed and built stone driveway can make a grand old
https://www.bkh-vom-erlengrund.de/crushing-plant/497tnt57/solid.html
Konakry tangible benefits environmental cobblestone spiral classifier sell at a loss - CONTRAKonakry tangible benefits environmental cobblestone spiral classifier sell at a loss - CONTRA
Conakry efficient environmental cobblestone agitation tank sell at a loss efficient cobblestonecoal millsell at a lossin Kyiv KyivUkraine Europe high end smallcobblestoneshaking table for sale tangible benefitssmall cobblestoneraymondmillsellat a lossin OdessaUkraine EuropeLvivUkraine Europemedium sandstone ballmillsellat a lossA wide variety of grindingmilloptions are available to you
https://www.wulkanizacja-lodzkie.pl/environmental-spiral-classifier/dmjjuhtb.html
current lime cobblestone price in chhattisgarh gravel crusher sale - Loxicatcurrent lime cobblestone price in chhattisgarh gravel crusher sale - Loxicat
Quarry Crushing Plant. Quarry crushing plant can be applied to the crushing of limestone, basalt, granite, cobblestone and other rocks. The quality of the finished products after crushing can fully reach the GB14685-2001 standard, providing qualified aggregates for highways, railways, water conservancy, and concrete mixing plants.
https://www.zograsalsgroen.nl/2021-01-29/crushing-plant/49jtt5hn.html
Cobblestone Bread Co. Philly Steak Rolls | 15 Oz. | Buns & Rolls | HannafordCobblestone Bread Co. Philly Steak Rolls | 15 Oz. | Buns & Rolls | Hannaford
Cobblestone Bread Co. Philly Steak Rolls found at Hannaford Supermarket. Add to online shopping list or grocery cart for Hannaford To Go.
https://www.hannaford.com/product/cobblestone-bread-co-philly-steak-rolls/941841
Cobblestone Bread Co. Sesame Twist Sandwich Rolls | HannafordCobblestone Bread Co. Sesame Twist Sandwich Rolls | Hannaford
Cobblestone Bread Co. Sesame Twist Sandwich Rolls found at Hannaford Supermarket. Add to online shopping list or grocery cart for Hannaford To Go.
https://www.hannaford.com/product/cobblestone-bread-co-sesame-twist-sandwich-rolls/922738
Cobblestone tongue and Sore mouth - Symptom Checker - check medical symptoms at RightDiagnosisCobblestone tongue and Sore mouth - Symptom Checker - check medical symptoms at RightDiagnosis
List of 83 causes for Cobblestone tongue and Sore mouth, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
http://symptoms.rightdiagnosis.com/cosymptoms/cobblestone-tongue/sore-mouth-desc.htm
Cobblestone tongue and Edema and Generalised Oedema - Symptom Checker - check medical symptoms at RightDiagnosisCobblestone tongue and Edema and Generalised Oedema - Symptom Checker - check medical symptoms at RightDiagnosis
List of 173 causes for Cobblestone tongue and Edema and Generalised Oedema, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
http://wrongdiagnosis.com/cosymptoms/cobblestone-tongue/edema/generalised-oedema.htm
Progress Lighting Crawford Collection Cobblestone 2-light Wall Lantern-DISCONTINUED-P5671-33 - The Home DepotProgress Lighting Crawford Collection Cobblestone 2-light Wall Lantern-DISCONTINUED-P5671-33 - The Home Depot
Progress Lighting - Crawford Collection Wall-Mount 2-Light Outdoor Cobblestone Lantern - This weather-resistant fixture will readily fit into your architectural style. It gives a bright glow. Built with robust bronze.
https://www.homedepot.com/p/Progress-Lighting-Crawford-Collection-Cobblestone-2-light-Wall-Lantern-DISCONTINUED-P5671-33/100467583
Expression of p73 and Reelin in the Developing Human Cortex<...Expression of p73 and Reelin in the Developing Human Cortex<...
TY - JOUR. T1 - Expression of p73 and Reelin in the Developing Human Cortex. AU - Meyer, Gundela. AU - Perez-Garcia, Carlos Gustavo. AU - Abraham, Hajnalka. AU - Caput, Daniel. PY - 2002/6/15. Y1 - 2002/6/15. N2 - Cajal-Retzius (CR) cells of the developing neocortex secrete Reelin (Reln), a glycoprotein involved in neuronal migration. CR cells selectively express p73, a p53 family member implicated in cell survival and apoptosis. Immunocytochemistry in prenatal human telencephalon reveals a complex sequence of migration waves of p73- and Reln-immunoreactive (IR) neurons into the cortical marginal zone (MZ). At early preplate stages, p73/Reln-IR cells arise in distinct sectors of the telencephalon, including cortical primordium and ganglionic eminences. After the appearance of the cortical plate, further p73/Reln-IR cells originate in the medial periolfactory forebrain. In addition, p73 marks a novel cell population that appears at the choroid-cortical junction or cortical hem before the ...
https://hungary.pure.elsevier.com/en/publications/expression-of-p73-and-reelin-in-the-developing-human-cortex
Laminations | Metal Supermarkets - Steel, Aluminum, Stainless, Hot-Rolled, Cold-Rolled, Alloy, Carbon, Galvanized, Brass,...Laminations | Metal Supermarkets - Steel, Aluminum, Stainless, Hot-Rolled, Cold-Rolled, Alloy, Carbon, Galvanized, Brass,...
Metal defects with separation or weakness generally aligned parallel to the worked surface of the metal. May be the result of pipe, blisters, seams, inclusions, or segregation elongated and made directional by working. Lamination defects may also occur in metal-powder compacts.. ...
https://www.metalsupermarkets.com/metal-glossary/laminations/
Genatlas sheetGenatlas sheet
mouse selectively deleted for the Tsc2 gene from radial glial progenitor cells in the developing cerebral cortex and hippocampus are severely runted, develop post-natal megalencephaly and die between 3 and 4 weeks of age with cortical and hippocampal lamination defects, hippocampal heterotopias, enlarged dysplastic neurons and glia, abnormal myelination and an astrocytosis ( ...
http://genatlas.medecine.univ-paris5.fr/fiche.php?onglet=5&n=2446
ALZFORUM | NETWORKING FOR A CUREALZFORUM | NETWORKING FOR A CURE
This is an important paper, which reports relevant information to understand the functional role of the Fe65 proteins. The results clearly demonstrate that the knockout of two members of the Fe65 protein family results in a phenotype similar to that observed in the APP/APLP1/APLP2 triple knockout, thus indicating that the APP-Fe65 complex plays a crucial role during development, as previously suggested by knockout experiments in the worm (Zambrano et al., 2002).. Although the molecular mechanism of the APP-Fe65 machinery is still unclear, two conclusions can be drawn:. 1. The observed phenotype does not depend on misexpression or mislocalization or altered processing of APP induced by the absence of two Fe65s (the marginal decrease of Aβ42 seems to appear only in male mice and no difference between males and females in the brain phenotype is reported).. 2. While the APP knockout phenotype was observed only in the triple knockout (Herms et al., 2004), Fe65L2 alone is unable to compensate for the ...
http://www.alzforum.org/papers/essential-roles-fe65-amyloid-precursor-protein-interacting-proteins-brain-development
Egg Quest: The Peeps - Yolk & CobblestonesEgg Quest: The Peeps - Yolk & Cobblestones
The search for truly rich and delicious eggs has been quite a little journey. It began well over a year ago, and since then I have searched grocery stores, farmers markets, roadside signs, and private farms. And while I did find some amazing eggs, nothing sparked the A-ha, Eureka, Ive Found it! moment. The eggs that have come the closest are from two local farms, Tomatero Farm in Watsonville, CA and Soul Food Farm in Vacaville, CA. Both farms feature their extremely good eggs in some of the highest end, sustainability-focused restaurants such as Nopa, Chez Panisse, Coi, and Frances. Yet still, something was lacking. The richest orange-yolk shades continued to elude me. And the prices (usually around $7/dozen) were seriously straining my struggling writer / wine-slinger budget. So whats a bona-fide egg fanatic to do? Crazy as it sounds, we decided to go straight to the source. Well, actually, we brought the source to us. ...
http://www.yolkandcobblestones.com/blog/2011/05/12/egg-quest-the-peeps
Essential Hot Tubs 24-Jet Rainier Hot Tub, Seats 5-6, Cobblestone/Espresso | Green Lawn & Garden StoreEssential Hot Tubs 24-Jet Rainier Hot Tub, Seats 5-6, Cobblestone/Espresso | Green Lawn & Garden Store
This item will be delivered curbside. To have the item delivered to a location of choice on your property, kindly make additional arrangements with a third…
https://greenlawngarden.com/product/essential-hot-tubs-ss1540240300-rainier-24-jet-hot-tub-cobblestone-espresso/
Nike Sock Dart SE Men s Sneaker Sail Cobblestone 911404-100 Size 10 D MNike Sock Dart SE Men s Sneaker Sail Cobblestone 911404-100 Size 10 D M
Originally released in 2004, the comfortable Nike Sock Dart has an easy slip-on design. They are also crafted with a seamless lightweight knit upper, flexible m
https://funoutdoors.info/nike-sock-dart-se-men-s-sneaker-sail-cobblestone-911404-100_-size-10-d-m/
Urine-spouting Hermes wannabe.Urine-spouting Hermes wannabe.
I had a strange dream last night: The cool white colors dominate the courtyard I am having lunch in with my friend, Brandon. The cobblestone floor is slightly worn, like the walls, with bits of moss growing on the cracks. The sky is clear overhead and piercing blue. A chill goes up my spine, as…
https://mindmaya.wordpress.com/2011/02/21/urine-spouting-hermes-wannabe/
Difference between revisions of Copenhagen/Østerbro - WikitravelDifference between revisions of Copenhagen/Østerbro - Wikitravel
Østerbro is a mainly residential district of Copenhagen, just north of the inner city. With its quiet cobblestone and tree lined streets, and its excellent shopping and cafe life, it makes for a good excursion from the downtown area.
https://wikitravel.org/wiki/en/index.php?title=Copenhagen/%C3%98sterbro&diff=2072042&oldid=1255502
PUBLIC ENEMY 30 YEARS ON - The Blackpool SentinelPUBLIC ENEMY 30 YEARS ON - The Blackpool Sentinel
Thirty years ago this weekend, Public Enemy played Trinity College, Dublin. Kieran Cunningham, Chief Sports Writer with the Irish Daily Star, and someone who once had musical notions of his own, has written this excellent guest post for us. https://www.youtube.com/watch?v=l_Jeyif7bB4 Joe Brolly was lying on his back on the cobblestones. Staring at the stars, wired…
https://theblackpoolsentinel.com/2018/05/18/public-enemy-30-years-on/?replytocom=3268
Control motorola drc800Control motorola drc800
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http://jamaicanska.tk/control-motorola-drc800
Fukuyama congenital muscular dystrophy - Genetics Home ReferenceFukuyama congenital muscular dystrophy - Genetics Home Reference
Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life.. Fukuyama congenital muscular dystrophy affects the skeletal muscles, which are muscles the body uses for movement. The first signs of the disorder appear in early infancy and include a weak cry, poor feeding, and weak muscle tone (hypotonia). Weakness of the facial muscles often leads to a distinctive facial appearance including droopy eyelids (ptosis) and an open mouth. In childhood, muscle weakness and joint deformities (contractures) restrict movement and interfere with the development of motor skills such as sitting, standing, and walking.. Fukuyama congenital muscular dystrophy also impairs brain development. People with this condition have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain ...
https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy
Bilateral frontoparietal polymicrogyria - WikipediaBilateral frontoparietal polymicrogyria - Wikipedia
Bilateral frontoparietal polymicrogyria (BFPP) is a genetic disorder with autosomal recessive inheritance that causes a cortical malformation. Our brain has folds in the cortex to increase surface area called gyri and patients with polymicrogyri have an increase number of folds and smaller folds than usual. Polymicrogyria is defined as a cerebral malformation of cortical development in which the normal gyral pattern of the surface of the brain is replaced by an excessive number of small, fused gyri separated by shallow sulci and abnormal cortical lamination. From ongoing research, mutation in GPR56, a member of the adhesion G protein-coupled receptor (GPCR) family, results in BFPP. These mutations are located in different regions of the protein without any evidence of a relationship between the position of the mutation and phenotypic severity. It is also found that GPR56 plays a role in cortical pattering. The GPR56 is grouped in the B family of GPCRs. This GPCR group have long N termini ...
https://en.wikipedia.org/wiki/Bilateral_frontoparietal_polymicrogyria
Lissencephaly due to TUBA1A Mutation (Lissencephaly Type 3): Symptoms, Diagnosis and Treatment - SymptomaLissencephaly due to TUBA1A Mutation (Lissencephaly Type 3): Symptoms, Diagnosis and Treatment - Symptoma
Lissencephaly due to TUBA1A Mutation (Lissencephaly Type 3): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis.
https://www.symptoma.com/en/info/lissencephaly-due-to-tuba1a-mutation
Lissencephaly | Definition of Lissencephaly by Merriam-WebsterLissencephaly | Definition of Lissencephaly by Merriam-Webster
Define lissencephaly: the condition of having a smooth appearance on the surface of the brain; specifically : an abnormality of brain development…
https://www.merriam-webster.com/dictionary/lissencephaly
Retinal Stem Cells and Eye of Newt | DNA Science BlogRetinal Stem Cells and Eye of Newt | DNA Science Blog
We have embryonic cells in our eyes, but theyre not embryonic stem or pluripotent cells. Theyre restricted to making a few cell types, Dr. Temple said as she sketched cells, something that developmental biology lends itself to and that she does when talking about her work.. The researchers obtained human RPEs from eye banks that harvest corneas and then discard whats left. In a body, RPE cells are quiescent, but in culture they divide like crazy, forming coatings of cobblestone-like cells festooned with RPE markers.. To show that an RPE cell could be a stem cell, the researchers gently removed one at a time and transferred it to its own dish, giving it space to divide. This would reveal the defining characteristic of a stem cell: the ability to self-renew, to copy itself. (If all a stem cell could do was turn into any cell type, as theyre often defined, the culture would soon poop out. I see this oversimplification in news releases and media reports on a near-daily basis.). Most of the ...
http://blogs.plos.org/dnascience/2013/01/17/retinal-stem-cells-and-eye-of-newt-3/
Essential roles for the FE65 amyloid precursor protein‐interacting proteins in brain development | The EMBO JournalEssential roles for the FE65 amyloid precursor protein‐interacting proteins in brain development | The EMBO Journal
In the present study, we examined the consequences of FE65 and FE65L1 deficiencies on mammalian brain development in mice. Until now, our understanding of the function of the FE65 family in vivo was limited to its role at the C. elegans neuromuscular junction (Zambrano et al, 2002; Bimonte et al, 2004). We report that the FE65 and FE65L1 proteins are required for integrity of the pial basement membrane, neuronal positioning and the establishment of normal axonal projections during cortical development. Furthermore, the phenotypes of the FE65 and FE65L1 double knockout share remarkable similarities with that reported for mutant mice lacking FE65‐binding partners, the three members of the APP gene family, that is APP, APLP1 and APLP2 (Herms et al, 2004), and the Ena/Vasp protein family (Lanier et al, 1999).. Molecules implicated in neuronal migration such as those necessary for locomotion, nucleokinesis and adhesion of migrating neurons along radial glia contribute to cortical development (Marin ...
http://emboj.embopress.org/content/25/2/420
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative...Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative...
X-linked lissencephaly and double cortex are allelic human disorders mapping to Xq22.3-Xq23 associated with arrest of migrating cerebral cortical neurons. We identified a novel 10 kb brain-specific cDNA interrupted by a balanced translocation in an XLIS patient that encodes a novel 40 kDa predicte …
https://pubmed.ncbi.nlm.nih.gov/9489700/?dopt=Abstract
Sizzix Embossing Powders | Sizzix US - Purple Dusk - Cobblestone - Lush Leaves - Agave - SorbetSizzix Embossing Powders | Sizzix US - Purple Dusk - Cobblestone - Lush Leaves - Agave - Sorbet
When youre crafting with Sizzix Embossing Folders, you need the best Embossing Powders from Sizzix US to finish your make too! Get Embossing. Shop here.
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QUARION - Cobblestone - EP - BoomkatQUARION - Cobblestone - EP - Boomkat
Free Shipping: We offer free postage on orders over £50.00 to the UK sent via Royal Mail.* *To qualify for free postage the order must be sent as one package. Therefore, all items must be in stock or you should be happy to wait until all items become available to ship so they can be sent as one package. Downloads and Gift Vouchers do not count towards free shipping. Please note that Pre-Orders do not count towards free shipping as their release dates are liable to fluctuate. Stock Status If your order contains items that have different estimated shipping dates (for example, available to pre-order, in stock, available to ship in 1-3 days) you will be given an option either to wait for everything to become available to ship in one package, or to ship each item as soon as it becomes available. Stock arrives at the office throughout the day so the stock status of items on the website can change several times a day. Important Note: all items that are not currently displaying as In Stock need ...
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The response of endothelial cells to TGF beta-1 is dependent upon cell shape, proliferative state and the nature of the...The response of endothelial cells to TGF beta-1 is dependent upon cell shape, proliferative state and the nature of the...
Endothelial cells plated on two-dimensional (2-D) substrata proliferate until they form a tightly apposed confluent monolayer of quiescent cells that display a typical cobblestone morphology. When added to proliferating cultures TGF beta-1 (transforming growth factor beta-1) inhibited cell growth and caused marked morphological changes, with the cells becoming enlarged and ragged. These effects were dose-dependent and reversible. TGF beta-1 also reduced the cloning efficiency and colony size of these cells, indicating that TGF beta-1 is cytotoxic and cytostatic for endothelial cells. By contrast, TGF beta-1 added to quiescent cobblestone cultures did not affect cell morphology or cell numbers. In the presence of 20% serum, the level of total protein synthesis per cell was significantly increased by TGF beta-1 in a dose-dependent manner when the cells were cultured on a 2-D substratum, regardless of whether the cells were proliferating or cobblestone quiescent. The level of plasminogen ...
http://christie.openrepository.com/christie/handle/10541/104709
AquaRest Spas Select AR-400 4 Person 20 Jet Spa (Cobblestone) | Green Lawn & Garden StoreAquaRest Spas Select AR-400 4 Person 20 Jet Spa (Cobblestone) | Green Lawn & Garden Store
-At 75 in. x 66 in. x 31 in. this spa is roomy and large enough to seat 4 adults comfortable and is barrier free. -20 Stainless Steel Jets -Our 100%
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phyllis`s view: cobblestone farmsphyllis`s view: cobblestone farms
Thank you so much for Mrs. Rabbit! I love her. Shes got just the right amount of sweet Annie-that much wont make me sneeze! She and Elizabeth are hugging on the dinning room table ...
http://tiptoethruphylsgarden.blogspot.com/2009/04/cobblestone-farms.html
for setting up a stone crusher unit - BIRNITHfor setting up a stone crusher unit - BIRNITH
Cobblestone blocks have a great stackedstoneaesthetic. Each one-ton block features the appearance of six smaller blocks, making it a great look for projects that need a smaller-scale look.Upto 23 square feet (2 square meters) of non-repeating texture is available
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Footloose and Forward - The Palladian TravelerFootloose and Forward - The Palladian Traveler
Michelle W of WordPress HQ wants our eyes and lenses focused on the front for this weeks Weekly Photo Challenge: FORWARD. Pardon me for being FORWARD, but would you like to get footloose and explore some of the alleyways, byways and waterways that Ive encountered during my meanderings along the cobblestone to somewhere? Great. Just double-knot your…
https://thepalladiantraveler.com/2013/02/26/footloose-and-forward/?like_comment=2136&_wpnonce=57e9a946c3
Pandemic Fatigue Is Real-And Its Spreading - WSJPandemic Fatigue Is Real-And Its Spreading - WSJ
From the corridors of Washington to the cobblestones of Paris, the coronavirus is roaring back and authorities are ramping up restrictions again. This time around, however, everyone is tired.
https://www.wsj.com/articles/pandemic-fatigue-is-realand-its-spreading-11603704601?mod=cxrecs_join
Dragonfly Izakaya & Fish MarketDragonfly Izakaya & Fish Market
Fresh salt breezes rolling over worn cobblestones. Fishermen unloading. A sea of color, sounds and activity. A true catch-to-consumption experience...
https://www.miamiandbeaches.com/restaurant/dragonfly-izakaya-fish-market/6440
A Review: Body-Customized Meld Saddles - Page 3 - Weight WeeniesA Review: Body-Customized Meld Saddles - Page 3 - Weight Weenies
I mentioned in another thread that I dont think a component used by a pro in a race implies that the component is good enough. If say a carbon frame is used in Paris Roubaix, Im pretty sure that thats a brand new frame and it probably wont be used again after the race. Cracks can develop during the course of the race, but not grow over that relatively short period of time and so nothing goes wrong on TV. For stage races, the mechanics most likely thoroughly check each bike and replace where they suspect there might be issues. Contrast with normal consumers who usually ride a frame for at least a couple of years: theyre going to continue using that frame after riding on the same cobblestones, giving any cracks formed the chance to develop and result in the component ultimately becoming unusable ...
http://weightweenies.starbike.com/forum/viewtopic.php?f=3&t=143705&p=1349703
Valparaiso, Chile - Lifestyle* - MailTribune.com - Medford, ORValparaiso, Chile - Lifestyle* - MailTribune.com - Medford, OR
As the tram moves up the steep tracks of Artilleria Hill, I catch glimpses of Valparaiso and its port below. The ride is a mere five minutes, and at the top we emerge on a promenade lifted from the late 19th century. It has cobblestones, blossoming trees and a cast-iron railing worthy of Queen Victoria with all its flourishes.
http://www.mailtribune.com/article/20080224/LIFE/802240323
exercise inspirationexercise inspiration
Clockwise from top: 1. Performance Piqué, the perfect fabric for workout tops and tees! The print pictured here is Cobblestone Trellis Pink by Lulabelle. 2. The sweets in Kociaras lovely Pin Up Fitness print remind us why were sweating it out! 3. Kitty-themed team spirit is a breeze when you make your own running outfits-the Colleterie shows you the process of designing a winning ensemble. 4. This custom yoga bag is durable and super-functional with an adjustable strap! 5. Whip up several of these VNA tops by Fehr Trade to add a little elegance to your workout attire-the pattern is based on a 1930s Vionnet evening gown! 6. These versatile City Gym Shorts are perfect for all ages, and mixing and matching fabric prints gives you infinite style possibilities!. Please do share your tips for staying motivated to work out in the comments below, and keep on movin!. Becca. ...
https://blog.spoonflower.com/tag/exercise-inspiration/
DECADENCE - VIRTUSDECADENCE - VIRTUS
Here is when heaven turns to black and hell to white. An ethereal journey waits shall your decision to continue through the delights that are Virtus be valid. Be welcomed with open arms and warm embraces all around. The jovial souls who call this place home truly light the city ablaze, for without the radiating delight they provide, this would be just another mark on the travelers map. Exquisite waterfalls touched by saintly gods rush down in the backdrop of the white city and its immense peaks. The sun-bleached cobblestones are now well-worn with the infinite passage across their face, directing traffic to any number of quaint shops for whatever the heart desires. Or perhaps its not a shop you seek, but the sweet comforts of royalty leading from the core ...
http://decadence-rpg.net/forumdisplay.php?fid=33
The Perks of Almost Dying - Hannah ElizabethThe Perks of Almost Dying - Hannah Elizabeth
Realizing how fragile life is is scary. That fragility doesnt seem quite real until something tips you towards the ground as youre hurrying along minding your own business, and you feel the slow motion seconds ticking by as you speed towards the cobblestones, suddenly very aware that you are made of the finest crystal and…
https://hannahelizabeth.com/2021/01/30/the-perks-of-almost-dying/
Lamination aminny lambaLamination aminny lamba
Mpanamboatra lamination lamba, orinasa, mpamatsy entana avy any Shina, izahay dia iray aminireo mpanamboatra 100% lehibe indrindra anao any Shina. Orinasa mpivarotra varotra be dia be no manafatra vokatra sy vahaolana avy aminay, mba hahafahanay manome anao ny mari-bidiny mahasoa indrindra miaraka amina kalitao mitovy ho anizay liana aminay.
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Lissencephaly | definition of lissencephaly by Medical dictionaryLissencephaly | definition of lissencephaly by Medical dictionary
Looking for online definition of lissencephaly in the Medical Dictionary? lissencephaly explanation free. What is lissencephaly? Meaning of lissencephaly medical term. What does lissencephaly mean?
https://medical-dictionary.thefreedictionary.com/lissencephaly
Lissencephaly disease: Malacards - Research Articles, Drugs, Genes, Clinical TrialsLissencephaly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 48471disease definitionthe term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.epidemiologythe incidence of all forms of type i lissencephaly is around 1 in 100,000 births.clinical descriptionchildren with lissencephaly have feeding and swallowing problems, muscle tone anomalies (early hypotonia and subsequently limb hypertonia), seizures (in particular, infantile spasms) and severe psychomotor retardation. multiple forms of lissencephaly have been described and their current classification is based on the associated malformations and underlying aetiology. two large groups can be ...
http://www.malacards.org/card/lissencephaly
Anderson Cobblestone™ Polypropylene Indoor Floor Mat, 4 x 10, Charcoal at StaplesAnderson Cobblestone™ Polypropylene Indoor Floor Mat, 4 x 10, Charcoal at Staples
Staples.com: Anderson Cobblestone™ Polypropylene Indoor Floor Mat, 4 x 10, Charcoal with fast and free shipping on select orders.
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Cobblestone Village, Springfield, MO - Senior Living - AgingCare.comCobblestone Village, Springfield, MO - Senior Living - AgingCare.com
Photos, reviews and ratings for Cobblestone Village in Springfield, MO. Find and compare senior living facilities in Springfield, MO.
https://www.agingcare.com/local/cobblestone-village-springfield-senior-living-mo
What is Lissencephaly?What is Lissencephaly?
Lissencephaly represents a developmental disorder resulting from abnormal neuronal migration. A wide spectrum of cerebral pathology can be seen in lissencephaly - from pachygyria and agyria (reduction and absence of cerebral convolutions, respectively) to subcortical band heterotopia where cerebral convolutions appear normal.
https://www.news-medical.net/health/What-is-Lissencephaly.aspx
Stone Walls, Cobblestone, and Terraced Cottage Gardens - A Storybook LifeStone Walls, Cobblestone, and Terraced Cottage Gardens - A Storybook Life
When we started working on the landscaping for our cottage in the woods, we were unsure of how to handle the hill that joined the side of the house with our country lane. Initially I really wanted some stairs leading up to the front door, otherwise we would always have to enter the house through the garage/basement… unless we walked all the way around the hill & up to the front door.. After looking at the size of the project, the price that it was surely going to cost, not to mention not knowing exactly how to go about accomplishing the project, I was afraid that we were going to have to settle for something less that what we really wanted. But… after going through lots of pictures, and discovering some new ideas to build a set of stairs ourselves, we finally had a new option!. You see, initially we tried to build the steps from stone that we gathered from around the property, but no matter what we did, we couldnt get them to lay even. Because we didnt want anyone to catch their toe & trip ...
http://www.astorybooklife.com/gardens/stone-walls-cobblestone-terraced-cottage-gardens/?replytocom=51097
Stone Walls, Cobblestone, and Terraced Cottage Gardens - A Storybook LifeStone Walls, Cobblestone, and Terraced Cottage Gardens - A Storybook Life
When we started working on the landscaping for our cottage in the woods, we were unsure of how to handle the hill that joined the side of the house with our country lane. Initially I really wanted some stairs leading up to the front door, otherwise we would always have to enter the house through the garage/basement… unless we walked all the way around the hill & up to the front door.. After looking at the size of the project, the price that it was surely going to cost, not to mention not knowing exactly how to go about accomplishing the project, I was afraid that we were going to have to settle for something less that what we really wanted. But… after going through lots of pictures, and discovering some new ideas to build a set of stairs ourselves, we finally had a new option!. You see, initially we tried to build the steps from stone that we gathered from around the property, but no matter what we did, we couldnt get them to lay even. Because we didnt want anyone to catch their toe & trip ...
http://www.astorybooklife.com/gardens/stone-walls-cobblestone-terraced-cottage-gardens/?replytocom=163101
vaccinations Archives - Cobblestone Healthvaccinations Archives - Cobblestone Health
Disclaimer: This article is very strongly opinionated. It may even offend some readers. It is not intended to do that. Read at your own risk. Im pretty steamed as I write this.. Theyre at it again. They are the Alberta government. Its flu season here in Alberta.. Last year we had a dismal 25% of the population take the flu shot. When the government saw that people were not initially lining up like obedient little children to get a flu shot, they put out the word that there was a very limited amount of vaccine available. People got panicky, and even though they had to pay out of pocket, often stood in line for hours to get the vaccination. In my not-so-humble opinion, it was a media frenzy created by bureaucracy, designed to frighten people. Scarcity is the number one marketing tactic. Anyone who has anything to sell will tell you that. The less there is of something the more everyone wants one, even if its cr*p. ...
https://cobblestonehealth.com/tag/vaccinations/
Sizzix Embossing Powders | Sizzix US - Agave - Cobblestone - Mango Tango - Lavender Dust - HibiscusSizzix Embossing Powders | Sizzix US - Agave - Cobblestone - Mango Tango - Lavender Dust - Hibiscus
When youre crafting with Sizzix Embossing Folders, you need the best Embossing Powders from Sizzix US to finish your make too! Get Embossing. Shop here.
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Nourison Overstock Modesto Cobblestone Charcoal 2 ft. 2 in. x 7 ft. 3 in. Rug Runner-182982 - The Home DepotNourison Overstock Modesto Cobblestone Charcoal 2 ft. 2 in. x 7 ft. 3 in. Rug Runner-182982 - The Home Depot
Creativity thrives in this eclectic collection that offers unique designs for every taste. Consider the fascinating abstract compositions that play with color and texture in crisp geometrics or soft curvilinear
https://www.homedepot.com/p/Nourison-Overstock-Modesto-Cobblestone-Charcoal-2-ft-2-in-x-7-ft-3-in-Rug-Runner-182982/204484695
Plus itPlus it
From our preliminary observation, it appears that GE cavitations are an aspect of more complex conditions associated with severe cerebral structural derangement. The awareness of this rare developmental abnormality involving the GE region may have implications in better understanding of the complex malformations caused by defective cellular proliferation and migration, such as lissencephalies. The fact that the lesions were bilateral and symmetric with an inverted regular open C shape, an epithelium-like lining, regular margins, and no apparent signs of hemorrhage (including the 2 cases with T1-weighted images) suggests a malformative rather than necrotic-clastic origin. Familial recurrence in 2 cases and the presence of frontal band heterotopias in 1 case further support such a hypothesis. Although the data are not extensive enough to conclude a statistical significance, the available ADC values (cases 1 and 4), albeit showing a slight trend toward mild reduction (0.85 SD, 0.09 m2/s), ...
http://www.ajnr.org/content/34/9/1841
Huang, ZhenHuang, Zhen
My lab is interested in several aspects of the development of the cerebral cortex. We are interested in how the different levels of organization in the cortex, from global to cellular and synaptic organization and from neural to vascular patterning, arise during normal development and how they may be affected in and contribute to brain neural and vascular diseases. To investigate how the exquisite layer organization of the cortex arises, we focus on the question of how the generation and migration of neurons and glia are regulated. We employ mouse genetics approaches and use tissue specific gene knockout technology to answer this question. Among the genes of interest to us is a gene involved in G protein coupled receptor (GPCR) signaling. We have found that mutation in this gene, ric-8a, which encodes a guanine nucleotide exchange factor (GEF) for heterotrimeric G proteins, results in cobblestone lissencephaly-like malformation in the cerebral cortex as well as lobule formation defects in the ...
https://neuro.wisc.edu/staff/huang-zhen/
Narco News: Walking: We Ask QuestionsNarco News: Walking: We Ask Questions
At every summit the stakes got higher; they were learning about us and working out how to contain us, while we had ceased to evolve our tactics of spectacular summit blockades. Carnivals against capital are wonderful at delegitimizing global capital, but in Genoa they declared war against us. They would shoot us rather than ever let us get into the red zone. In any case, we had to stop and ask what would we do if we ever did get there? Preventing the G8 from meeting would never, alone, create the world we wanted. After Genoa, our direct action summit blockade tactics, which just two years before had shut down Seattle, could never happen again in the same way. The next step if we followed that path - really a cul de sac - which they want us to take was to declare all out war in a military battle we could never win. But as the blood dried on the cobblestones and white walls of the raided Diaz school, we realized that the struggle needed, once again, to be on our terms, not theirs. We needed to ...
http://www.narconews.com/Issue35/article1124.html
Effects exercise cardiovascular system № For Free # 14743021Effects exercise cardiovascular system № For Free # 14743021
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preserving what money cant buy with ViaCord / Beconing Lolapreserving what money cant buy with ViaCord / Beconing Lola
What the heck does a minimalist fashion and lifestyle blog have to do with science? Thats what youll be wondering quite soon, which is completely understandable as it was the question that was repeatedly popping up over and over again while posing for the picture above in the lobby of one of the worlds largest PR firms for a supremely over-my-level-of-comprehension conference event for ViaCord. But as with most things judged based on ignorance with just a smidgin of self-absorption, my mind was blown that there was a whole industry I knew nothing about that was saving as many lives as stilettos were tripping up not so effortless fashionistas strolling on cobblestone streets. Is it that we all have our heads to far up our you know whats, or is it more than that? When I mused about my minimalist number (a number thats so much less embarrassing for people to proclaim than the other number, cough cough) I posed a question to you all: what would life loom like if we werent spending 70% of our ...
https://becominglola.blogspot.com/2014/10/preserving-what-money-cant-buy-with.html
Stairs Workout Cross Training in Portugal - YouTubeStairs Workout Cross Training in Portugal - YouTube
Leg Strength Power Walking in Portugal. Marta and Brock go for a long walk through the cobblestone walkways, hills, and stairs through Porto in Portugal, and...
https://www.youtube.com/watch?v=ifm-YyeTiyk&feature=relmfu
A Defense of Knowledge SkillsA Defense of Knowledge Skills
In reviewing Courtneys analysis in preparation for writing this post, it occurred to me that there is a fourth type of information. Imagine, for example, that my players have entered a room. It would be trivial of me to mention that the cobblestone floors have cracks in a few of the stones. I could mention to the players that the room smells so bad they can taste the pungent air on their tongues. Its not vital for me to do so, since the smell does not affect the game, but it does help the players to imagine their environment, which is fun, so why not. It is crucial that I tell the players there are two exits on the north wall, and that theres a large pile of stones in the corner.. 4. Hidden information.. I should probably not tell the players that theres a pile of gold under the stones. If they want to learn about that, then theyre going to need to do some work. Like maybe digging through the pile of stones.. There are two types of hidden information. The kind which can be modeled at the ...
http://www.paperspencils.com/2013/02/12/a-defense-of-knowledge-skills/
Best Pasta Dishes at Local Italian Restaurants | Seattle MagazineBest Pasta Dishes at Local Italian Restaurants | Seattle Magazine
Storied Italian women are said to sit on old stools set on cobblestone streets, rolling gnocchi off forks, pinching pasta into hankie shapes or cutting it into short tubes. Locally, pasta makers hand-cut fine, fresh pastas, too, and they are stunningly good. Our favorite local pasta dishes run the gamut, from understated elegance to decadent and over the top. Try them all and
https://www.seattlemag.com/article/best-pasta-dishes-local-italian-restaurants
Bus ToursBus Tours
Nantucket is one of the first settlements in America. Nantuckets original Native American inhabitants, the Wampanoag people, lived undisturbed until 1641 when the island was deeded by the British. The original deeds to the islands land were divided 31 ways, and many families who live on the island today are distant relatives to the islands Founding Fathers and so the island began to grow. It wasnt until the whaling boom in the 1700s, however, that Nantucket gained some exposure and the wealth now associated with the island. Now, with its cobblestone streets, quaint boutiques, pristine beaches, whaling museum, and year round festivals and attractions, Nantucket continues to be a favorite destination of people around the world ...
https://www.nantucketbustours.com/services/bus-tours/
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http://agendadiy.tk/house-sale-agreement-format-in-tamil
Turtle Head Attack!: Troubleshooting an InjuryTurtle Head Attack!: Troubleshooting an Injury
Next step is to discard the things that are unlikely to be the source of the problem.. While Id really like the problem to be lack of beer, that is unlikely to be the cause.. Altering my stride by picking up my knees could very well do it.. Cobblestones can definitely cause injuries, but it wasnt very far, maybe a block or two.. I now have two reasonable suspects. If I changed both things tomorrow, and the problem went away, I would have no idea what fixed it. So the best course of action is to only change one thing at a time. This is important, so I will repeat it:. Only change one thing at a time!. I had this problem off and on for a year, and then it mysteriously went away. I tried different things, but I didnt keep a record or journal of what I did. This is another important thing to remember:. Keep a journal!. It doesnt have to be on the internet, like this one. It could be in a spiral notebook. Just keep track of the distance and or time you ran, and any information on how you felt. ...
http://www.turtleheadattack.com/2009/04/troubleshooting-injury.html?showComment=1241583480000
The A.D.D. Knitter--because I make everything a lot harder than it needs to be...: I swatched...a dish cloth?The A.D.D. Knitter--because I make everything a lot harder than it needs to be...: I swatched...a dish cloth?
After way too much travail, a lot of trial and error, and a ridiculous amount of swatching (Really? For a dish cloth?!) it started to dawn on me that at a certain point I had swatched more for this dish cloth than for the Klaralund, Cobblestone and Drive-Thru COMBINED. So I decided to break out and go free style. Yes, its my first pattern. Later, Brompton. Step off, Marigold Socks. Bainbridge? Please. Theres a new kid in town. Im calling it The Perfect Dishcloth™. This very intricate pattern will one day be hailed as the greatest dish cloth in the history of the world. Now before you all crash the server trying to download the pattern à la the Fiddlehead Mitten incident, I forgot to write down the pattern before mailing it off, so youre on your own. ...
http://theaddknitter.blogspot.com/2008/03/i-swatcheda-dish-cloth.html?showComment=1205956560000
Strange Horizons - Four Lies from the Mouth of God By Megan ArkenbergStrange Horizons - Four Lies from the Mouth of God By Megan Arkenberg
Spring. It should have meant boat launches on the river, tulips opening in Richters Park, the brick townhouse facades and red cobblestones of Laum Street washed clean and smooth. The air should have been filled with voices and flowers and the far-off scent of rain.. But for the last three years, since the soldiers came, spring in the Reich had meant something else.. I saved you a place, Hermine said. She had been an acquaintance of mine before the revolution: now, when it was safest to surround oneself with patriots and zealots, she was my closest friend. Right below the scaffold. Theyre sure to see you there.. I swallowed past the lump in my throat and followed her though the crowd, gripping her hand when the press became too tight. In this crowd of red and white and gold, we could all-too-easily be separated.. We heard that you were raided, she said as we parted a group of tricolor-wielding schoolchildren. There was a sticky trace of gloating in her voice; she was reassured by the ...
http://strangehorizons.com/fiction/four-lies-from-the-mouth-of-god/
Northern Lights Finland - GadlingNorthern Lights Finland - Gadling
Neil has posted here several times about the Northern Lights, and each time he does, I am reminded of the fact that I have never seen them. This bothers me. Seeing the Northern Lights, in fact photographing them, has long been a life list goal of mine, and the fact Ive never seen anything other than pictures bothers me. Well, pictures is what I have, so for now I have to stick to them. As you probably know, to see the Northern Lights, you have to go North. Easy enough, right. But where? Well, Canada is a good start. But another place, where you can get not just a wonderful full of the lights, but also have a wonderful travel experience, is Finland. Finland has long long been on my list of MUST-VISIT countries. No question about it. Ive wanted to walk the cobblestone roads of Helsinki and sip aquavit there (not to mention check out the lovely Finnish women) for much of my life. And as I say, now I have another reason to go. Here, see what I mean. Check out this series of amazing photos of the ...
http://gadling.com/2006/08/27/northern-lights-finland/
Travel Health Risks & How to Prepare For Them - The Village JournalTravel Health Risks & How to Prepare For Them - The Village Journal
Traveling is all about fun and adventure: traipsing through lush jungles, floating in crystal clear springs, and wandering down historic cobblestone street
http://thevillagejournal.com/travel-health-risks-prepare/
ISPD 2018 Blog | ISPD Vancouver 2018ISPD 2018 Blog | ISPD Vancouver 2018
By Asher Mendelson MD, Critical Care and Medical Biophysics ISPD 2018 Scientific Committee member, and chair, Basic Science Pre-course The PD community has always had an interesting relationship with glucose. As a trusted friend, this molecule underpins the essential.... read more ...
http://ispdvancouver2018.org/ispd-2018-blog/
Publications | Max Planck Institute for Biophysical ChemistryPublications | Max Planck Institute for Biophysical Chemistry
Reiner, O.; Albrecht, U.; Gordon, M.; Chianese, K. A.; Wong, C.; Gal-Gerber, O.; Sapir, T.; Siracusa, L. D.; Buchberg, A. M.; Caskey, C. T. et al.; Eichele, G.: Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration. The Journal of Neuroscience 15 (5), pp. 3730 - 3738 (1995 ...
https://www.mpibpc.mpg.de/publication-search/102172?page=5&person=%2Fpersons%2Fresource%2Fpersons15030
Bilateral frontoparietal polymicrogyriaBilateral frontoparietal polymicrogyria
... which includes cobblestone lissencephaly. Cobblestone lissencephaly is typically seen in three different human congenital ... In cobblestone lissencephaly, the brain surface actually has a bumpy contour caused by the presence of collections of misplaced ... Lissencephaly ("smooth brain") is the extreme form of pachygyria. In lissencephaly, few or no sulci are seen on the cortical ... However, the presence of other abnormalities in these cobblestone lissencephaly syndromes, including ocular anomalies, ...
https://en.wikipedia.org/wiki/Bilateral_frontoparietal_polymicrogyria
Fukuyama congenital muscular dystrophyFukuyama congenital muscular dystrophy
FCMD affects normal development of the brain producing a broadly smooth, bumpy shaped cortex named cobblestone lissencephaly as ...
https://en.wikipedia.org/wiki/Fukuyama_congenital_muscular_dystrophy
LissencephalyLissencephaly
Cobblestone lissencephaly is named after the pebbled or cobblestone appearance of the cortical surface. This uneven cortical ... Cobblestone lissencephaly shows a reduction and abnormalities in the grey matter of the cerebral cortex. Causes of ... There are anatomical symptoms that differ across the two main types of lissencephaly, Classical (Type I) and Cobble Stone (Type ... The cause of lissencephaly has been linked to both genetic and non-genetic factors. Three main types of lissencephaly have been ...
https://en.wikipedia.org/wiki/Lissencephaly
PachygyriaPachygyria
Neuronal migration disorders are generally classified into three groups: lissencephaly/subcortical band heterotopia cobblestone ... most commonly disorders relating to varied degrees of lissencephaly. Lissencephaly is present in 1 of 85,470 births and the ... Most lissencephaly cases are associated with deletions of mutations of the LIS1 gene and the results are usually more severe in ... Classical lissencephaly, also known as type I or generalized agyria-pachygyria, is a severe brain malformation of a smooth ...
https://en.wikipedia.org/wiki/Pachygyria
C0457133[DISCUI] - GTR - NCBIC0457133[DISCUI] - GTR - NCBI
Cobblestone Lissencephaly Panel. Genetic Services Laboratory University of Chicago. United States. 6. 17. *C Sequence analysis ...
https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=C0457133%5BDISCUI%5D&methods=1%3A2
Plus itPlus it
... lissencephaly, which is characterized by a four-layer cerebral cortex, cobblestone lissencephaly is characterized by glial/ ... For this reason we examined long-term potentiation in Largemyd mice, a mouse model of cobblestone lissencephaly caused by ... Cobblestone (type II) lissencephaly and mental retardation are characteristic features of a subset of congenital muscular ... The genes linked to CMD-associated cobblestone lissencephaly encode known or putative glycosyltransferases, and muscle biopsies ...
http://www.jneurosci.org/content/30/43/14560
RXYLT1 Gene - GeneCards | RXLT1 Protein | RXLT1 AntibodyRXYLT1 Gene - GeneCards | RXLT1 Protein | RXLT1 Antibody
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. (PMID: 23217329) Vuillaumier- ... Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants ... Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants ... An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and ...
https://www.genecards.org/cgi-bin/carddisp.pl?gene=RXYLT1&keywords=GH12J063798&prefilter=genomic_location
Montreal 2015Montreal 2015
Prenatal imaging cerebral pattern of cobblestone lissencephaly according to gestational age & imaging modalities. Fetal ...
https://www.isuog.org/resource/montreal-2015.html
How is congenital muscular dystrophy (CMD) diagnosed prenatally?How is congenital muscular dystrophy (CMD) diagnosed prenatally?
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 2012 Dec 7. 91(6 ...
https://www.medscape.com/answers/1180214-189749/how-is-congenital-muscular-dystrophy-cmd-diagnosed-prenatally
What causes congenital muscular dystrophy (CMD) with familial junctional epidermolysis bullosa?What causes congenital muscular dystrophy (CMD) with familial junctional epidermolysis bullosa?
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 2012 Dec 7. 91(6 ...
https://www.medscape.com/answers/1180214-189726/what-causes-congenital-muscular-dystrophy-cmd-with-familial-junctional-epidermolysis-bullosa
Quentin S[au] - PubMed - NCBIQuentin S[au] - PubMed - NCBI
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. ...
https://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Quentin+S%5Bau%5D&dispmax=50
Plus itPlus it
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain 2012;135:469- ... GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain 2010 ... such as tubulinopathies21 and cobblestone malformations22⇓-24; these have different histologic appearances but similar MR ...
http://www.ajnr.org/content/36/2/309
Walker-Warburg syndrome: MedlinePlus GeneticsWalker-Warburg syndrome: MedlinePlus Genetics
Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg ... individuals with this condition typically have a brain abnormality called cobblestone lissencephaly, in which the surface of ... the brain lacks the normal folds and grooves and instead develops a bumpy, irregular appearance (like that of cobblestones). ...
https://medlineplus.gov/genetics/condition/walker-warburg-syndrome/
Lissencephaly - WikipediaLissencephaly - Wikipedia
Cobblestone lissencephaly is named after the pebbled or cobblestone appearance of the cortical surface. This uneven cortical ... Cobblestone lissencephaly shows a reduction and abnormalities in the grey matter of the cerebral cortex. Causes of ... There are anatomical symptoms that differ across the two main types of lissencephaly, Classical (Type I) and Cobble Stone (Type ... The cause of lissencephaly has been linked to both genetic and non-genetic factors. Three main types of lissencephaly have been ...
https://en.wikipedia.org/wiki/Lissencephaly
Fukuyama congenital muscular dystrophy: MedlinePlus GeneticsFukuyama congenital muscular dystrophy: MedlinePlus Genetics
People with this condition have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain. ... Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Fukuyama ... develops a bumpy, irregular appearance (like that of cobblestones). These changes in the structure of the brain lead to ...
https://medlineplus.gov/genetics/condition/fukuyama-congenital-muscular-dystrophy
SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub, Nature Communications | 10.1038...SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub, Nature Communications | 10.1038...
Lach, B. & Arredondo, J. Cobblestone lissencephaly in Schinzel-Giedion (Thermo Fisher Scientific) were used: SKIDA1 (Hs01096520 ... Lach, B. & Arredondo, J. Cobblestone lissencephaly in Schinzel-Giedion (Thermo Fisher Scientific) were used: SKIDA1 (Hs01096520 ...
https://www.deepdyve.com/lp/springer_journal/setbp1-induces-transcription-of-a-network-of-development-genes-by-lJyPnJP0Ks
β1 Integrins in Radial Glia But Not in Migrating Neurons Are Essential for the Formation of Cell Layers in the Cerebral Cortex ...β1 Integrins in Radial Glia But Not in Migrating Neurons Are Essential for the Formation of Cell Layers in the Cerebral Cortex ...
Integrin-linked kinase deletion from mouse cortex results in cortical lamination defects resembling cobblestone lissencephaly. ... A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly ...
http://www.jneurosci.org/content/27/50/13854.long
Dandy-Walker continuum | Radiology Reference Article | Radiopaedia.orgDandy-Walker continuum | Radiology Reference Article | Radiopaedia.org
lissencephaly type II (cobblestone complex). *heterotopia: ectopic migration *subependymal heterotopia. * subcortical ... lissencephaly * lissencephaly type I: subcortical band heterotopia spectrum (band heterotopia): undermigration. * ...
https://radiopaedia.org/articles/dandy-walker-continuum-3
Blumcke classification of focal cortical dysplasia | Radiology Reference Article | Radiopaedia.orgBlumcke classification of focal cortical dysplasia | Radiology Reference Article | Radiopaedia.org
lissencephaly type II (cobblestone complex). *heterotopia: ectopic migration *subependymal heterotopia. * subcortical ... lissencephaly * lissencephaly type I: subcortical band heterotopia spectrum (band heterotopia): undermigration. * ...
https://radiopaedia.org/articles/blumcke-classification-of-focal-cortical-dysplasia?lang=us
Congenital Muscular DystrophyCongenital Muscular Dystrophy
Brain MRI shows cobblestone lissencephaly with agyria and additional areas of macrogyria and polymicrogyria. The cortex is ... Brain MRI shows signs of cobblestone lissencephaly with pachygyria over the frontal, temporal, and parietal regions and ... and ranges from severe muscular dystrophy with cobblestone complex lissencephaly, eye involvement and an early fatal outcome, ... 28 Seizures also are frequent1 Brain MRI shows cobblestone lissencephaly with areas of polymicrogyria, macrogyria, and agyria, ...
https://www.healio.com/pediatrics/journals/pedann/2005-7-34-7/%7B5c411a6c-2fad-4e86-b987-2cead5b58aef%7D/congenital-muscular-dystrophy
CONGENITAL ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM | Journal of Neurology, Neurosurgery & PsychiatryCONGENITAL ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM | Journal of Neurology, Neurosurgery & Psychiatry
Type II lissencephaly or Walker-Warburg syndrome. This is also called "cobblestone lissencephaly" and is a different ... Agyria-pachygyria (lissencephaly). There may be complete absence of gyri, in which case the terms agyria or lissencephaly ( ... Type I lissencephaly. Here the brain is small with only the primary and sometimes a few secondary gyri. The cortex is thick ... In type II lissencephaly the cerebral malformations may be associated with eye or muscle abnormalities so that a comprehensive ...
https://jnnp.bmj.com/content/74/suppl_1/i3
Polymicrogyria: pathology, fetal origins and mechanisms | Acta Neuropathologica Communications | Full TextPolymicrogyria: pathology, fetal origins and mechanisms | Acta Neuropathologica Communications | Full Text
The observation of PMG in association with other and better understood forms of brain malformation, such as cobblestone cortex ... In cobblestone lissencephaly the most severe cobblestone pathology is over the lateral aspects of the hemispheres, but the ... Cobblestone lissencephaly, the malformation in GPR56 and TUBA1A mutations as well as PMG tend to spare the base of the brain ... Unlike classical lissencephaly, in the cobblestone malformation the brainstem and cerebellar cortex, which depend on migration ...
https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-014-0080-3
Murat Gunel, MD, FACS, FAHA, FAANS > Vascular Biology & Therapeutics Program | Yale School of...Murat Gunel, MD, FACS, FAHA, FAANS > Vascular Biology & Therapeutics Program | Yale School of...
Lead to Cobblestone Lissencephaly. Am J Hum Genet. 2016 Nov 3; 2016 Oct 20. PMID: 27773428 ...
http://medicine.yale.edu/vbt/faculty/murat_gunel-2.profile
Murat Gunel, MD, FACS, FAHA, FAANS | Neuroscience | Yale School of MedicineMurat Gunel, MD, FACS, FAHA, FAANS | Neuroscience | Yale School of Medicine
Lead to Cobblestone Lissencephaly. Am J Hum Genet. 2016 Nov 3; 2016 Oct 20. PMID: 27773428 ...
https://medicine.yale.edu/neuroscience/people/murat_gunel-2.profile
Bilateral frontoparietal polymicrogyria - WikipediaBilateral frontoparietal polymicrogyria - Wikipedia
... which includes cobblestone lissencephaly. Cobblestone lissencephaly is typically seen in three different human congenital ... In cobblestone lissencephaly, the brain surface actually has a bumpy contour caused by the presence of collections of misplaced ... Lissencephaly ("smooth brain") is the extreme form of pachygyria. In lissencephaly, few or no sulci are seen on the cortical ... However, the presence of other abnormalities in these cobblestone lissencephaly syndromes, including ocular anomalies, ...
https://en.wikipedia.org/wiki/Bilateral_frontoparietal_polymicrogyria
Halim Group - University of CopenhagenHalim Group - University of Copenhagen
Cobblestone lissencephaly).. Differential regulation of protein O-mannosylation in metazoans. O-mannosylation is predicted to ...
https://icmm.ku.dk/english/research-groups/halim-group/
Anti-Fukutin/fktn antibody (ab171195)Anti-Fukutin/fktn antibody (ab171195)
... is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and ...
https://www.abcam.com/fukutin-antibody-ab171195.html
ILK (integrin-linked kinase)ILK (integrin-linked kinase)
ILK deletion in the central nervous system leads to Cobblestone lissencephaly (Niewmierzycka et al., 2005) and to cerebellar ... Integrin-linked kinase deletion from mouse cortex results in cortical lamination defects resembling cobblestone lissencephaly. ...
http://atlasgeneticsoncology.org/Genes/GC_ILK.html
Graham JB et al. (2020), Endoplasmic reticulum transmembrane protein TMT... - Paper Graham JB et al. (2020), Endoplasmic reticulum transmembrane protein TMT... - Paper
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. 2017, ... Disease Ontology terms: lissencephaly Article Images: [+] show captions FIGURE 1: TMTC3 and TMTC4 are ER resident proteins. (A ... Mutations in TMTC3 have been linked to neuronal cell migration diseases including Cobblestone lissencephaly. Analysis of TMTC3 ... as well the basis of TMTC3-associated Cobblestone lissencephaly. PubMed ID: 31851597 PMC ID: PMC7001481 Article link: Mol Biol ...
http://www.xenbase.org/literature/article.do?method=display&articleId=56558
Publications | Max Planck Institute for Biophysical ChemistryPublications | Max Planck Institute for Biophysical Chemistry
Yatsenko, A. S.; Marrone, A. K.; Shcherbata, H. R.: miRNA-based buffering of the cobblestone-lissencephaly-associated ...
https://www.mpibpc.mpg.de/publication-search/15780722?person=%2Fpersons%2Fresource%2Fpersons15827
Publikationen | Max-Planck-Institut für biophysikalische ChemiePublikationen | Max-Planck-Institut für biophysikalische Chemie
Yatsenko, A. S.; Marrone, A. K.; Shcherbata, H. R.: miRNA-based buffering of the cobblestone-lissencephaly-associated ...
https://www.mpibpc.mpg.de/publication-search/71431?person=%2Fpersons%2Fresource%2Fpersons15827
Lissencephaly Summary Report | CureHunterLissencephaly Summary Report | CureHunter
Lissencephaly: A smooth brain malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons ... 06/01/2003 - "Retinal and anterior segment abnormalities were observed only in cobblestone (type 2) lissencephaly. ". 02/01/ ... Lissencephaly. Subscribe to New Research on Lissencephaly A "smooth brain" malformation of the CEREBRAL CORTEX resulting from ... the lissencephaly critical region (chromosome 17p) encompassing the LIS1 gene and which is involved in human lissencephaly; and ...
http://www.curehunter.com/public/keywordSummaryD054082-Lissencephaly.do
The Dystroglycanopathies: The New Disorders of O-Linked GlycosylationThe Dystroglycanopathies: The New Disorders of O-Linked Glycosylation
... cobblestone) lissencephaly. In WWS, the brain can be almost completely agyric. Brain ultrastructure shows a cobblestone pattern ...
http://pubmedcentralcanada.ca/pmcc/articles/PMC2860379/
Characteristics of neurons and glia in the brain of Fukuyama type congenital muscular dystrophyCharacteristics of neurons and glia in the brain of Fukuyama type congenital muscular dystrophy
The CNS lesions are generally characterized by cobblestone lissencephaly, in other words, type II lissencephaly or ...
http://pubmedcentralcanada.ca/pmcc/articles/PMC2859607/
MalformationPolymicrogyriaClassical lissencephalyMutationsAbnormalitiesHeterotopiaLissencephaliesForms of lissencephaly have been describedResult in cobblestoneCerebralGeneticAnomaliesFukuyamaGenesPlatelet-activating factor acetSevereHuman lissencephalyDisordersTypes of lissencephalyDysplasiaLIS1Mental retardationAgyriaExtracellular matrixPhenotypesMiller-DiekerDystroglycanTypeSyndromeAutosomal recessivePachygyriaCortical surfaceGyriSubtypesGlycosylationSeizuresPatientsDifferential
Malformation9
  • Deletion of dystroglycan in the whole brain produced glial/neuronal heterotopia resembling the cerebral cortex malformation in cobblestone lissencephaly. (jneurosci.org)
  • Children with lissencephaly generally have significant developmental delays, but these vary greatly from child to child depending on the degree of brain malformation and seizure control. (wikipedia.org)
  • The observation of PMG in association with other and better understood forms of brain malformation, such as cobblestone cortex, suggests mechanistic pathways for some forms of PMG. (biomedcentral.com)
  • Symptoms: Developmental delay, Psychomotor delay, Mental retardation - moderate to severe, Exaggerated reflexes and Seizures (epilepsy) BFPP is a cobblestone-like cortical malformation of the brain. (wikipedia.org)
  • Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. (blueprintgenetics.com)
  • Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly). (moodmakers.info)
  • We have found that mutation in this gene, ric-8a , which encodes a guanine nucleotide exchange factor (GEF) for heterotrimeric G proteins, results in cobblestone lissencephaly-like malformation in the cerebral cortex as well as lobule formation defects in the cerebellum. (wisc.edu)
  • Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment. (cdc.gov)
  • Severe malformation phenotypes, such as X-linked lissencephaly with ambiguous genitalia (XLAG), are frequently observed in individuals with protein truncating or missense mutations clustered in the highly conserved paired-type homeodomain. (biomedcentral.com)
Polymicrogyria7
  • However, the presence of other abnormalities in these cobblestone lissencephaly syndromes, including ocular anomalies, congenital muscular dystrophy, ventriculomegaly, and cerebellar dysplasia, usually distinguishes these disorders from polymicrogyria. (wikipedia.org)
  • Lissencephaly can be radiologically confused with polymicrogyria, particularly with low-resolution imaging, but the smoothness and lack of irregularity in the gray-white junction, along with markedly increased cortical thickness, distinguishes lissencephaly. (wikipedia.org)
  • The CNS lesions are generally characterized by cobblestone lissencephaly, in other words, type II lissencephaly or polymicrogyria. (pubmedcentralcanada.ca)
  • Classic lissencephaly , cobblestone lissencephalies, polymicrogyria, schizencephaly, and heterotopia have all been described previously in conjunction with anomalies of the corpus callosum [33-35]. (thefreedictionary.com)
  • We report our genetic results for a cohort of more than 950 independent patients with holoprosencephaly (HPE) and neuronal migration disorders (periventricular nodular heterotopia, subcortical band heterotopia, classical lissencephaly, polymicrogyria and cobblestone lissencephaly) over 13 years. (ashg.org)
  • Neuropathological examination of the brain shows unlayered polymicrogyria that differs from the classical four-layered polymicrogyria, and is similar to cortical anomaly encountered in the so called "cobblestone" lissencephaly. (eurorad.org)
  • Despite having been associated with dyslexia, epilepsy, cobblestone lissencephaly, polymicrogyria, and Fukuyama muscular dystrophy, a complete understanding of the cellular and axonal constituents of molecular layer heterotopia is lacking. (bvsalud.org)
Classical lissencephaly9
  • In contrast to type I (classical) lissencephaly, which is characterized by a four-layer cerebral cortex, cobblestone lissencephaly is characterized by glial/neuronal heterotopia that disrupt the laminar organization of the cerebral cortex ( Olson and Walsh, 2002 ). (jneurosci.org)
  • In Classical lissencephaly the cortex becomes thickened and can be identified by four layers of the cerebral cortex rather than six. (wikipedia.org)
  • two large groups can be distinguished: classical lissencephaly (and its variants) and cobblestone lissencephaly. (malacards.org)
  • in classical lissencephaly (or type i), the cortex appears thickened, with four more or less disorganised layers rather than six normal layers. (malacards.org)
  • in the variants of classical lissencephaly, extra-cortical anomalies are also present (total or subtotal agenesis of the corpus callosum and/or cerebellar hypoplasia). (malacards.org)
  • Dermatological and imaging evaluation of a 2-year-old male child with refractory seizures and developmental delay revealed an interesting and first of its kind association of congenital melanocytic nevus and classical lissencephaly. (ijpd.in)
  • The final diagnosis of CMN with classical lissencephaly was made based on the workup. (ijpd.in)
  • Classical lissencephaly results from an arrest of neuronal migration, whereas cobblestone lissencephaly results from overmigration. (eurekaselect.com)
  • Pachygyria is currently considered a subtype of "Lissencephaly spectrum of disorders" which ranges from classical lissencephaly (agyria or pachygyria), in which microscopic examination reveals total disorganization of the cortex and absence of any distinguishable layers to subcortical band heterotopia or double-cortex syndrome. (candicelange.com)
Mutations8
  • Mutations in this gene result in cobblestone lissencephaly. (genecards.org)
  • Mutations in LIS1, DCX (doublecortin), ARX(aristaless related homeobox), RELN have all been identified to cause lissencephaly. (wikipedia.org)
  • There are no anatomopathologic studies that have characterized the pattern of cortical laminar alterations in patients with GPR56 gene mutations, but it has been suggested that the imaging characteristics of BFPP, including myelination defects and cerebellar cortical dysplasia, are reminiscent of those of the so-called cobblestone malformations (muscle-eye-brain disease and Fukuyama congenital muscular dystrophy) that are also associated with N-glycosylation defects in the developing brain. (wikipedia.org)
  • Mutations in TMTC3 have been linked to neuronal cell migration diseases including Cobblestone lissencephaly. (xenbase.org)
  • Analysis of TMTC3 mutations associated with Cobblestone lissencephaly found that three of the variants exhibit reduced stability and missence mutations were unable to complement TMTC3 rescue of gastrulation in Xenopus embryo development. (xenbase.org)
  • Mutations in ARX are found in Partington syndrome (a neurological disorder associated with intellectual impairment and focal dystonia of the hands), Ohtahara syndrome , X-linked West syndrome , X-linked generalized epilepsy with myoclonic seizures and intellectual disability and in X-linked structural brain abnormality such as lissencephaly (which may be accompanied by ambiguous genitalia). (epilepsydiagnosis.org)
  • Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. (moodmakers.info)
  • Nonsense mutations, polyalanine tract expansions and missense mutations in ARX cause a range of intellectual disability and epilepsy phenotypes with or without additional features including hand dystonia, lissencephaly, autism or dysarthria. (biomedcentral.com)
Abnormalities6
  • Cobblestone lissencephaly shows a reduction and abnormalities in the grey matter of the cerebral cortex. (wikipedia.org)
  • Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. (mendelian.co)
  • These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease. (bvsalud.org)
  • A rare genetic cobblestone lissencephaly disease with characteristics of the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures. (cdc.gov)
  • The most severe form is Walker-Warburg syndrome (WWS), which has an onset at birth and is characterized by severe muscular dystrophy, cobblestone lissencephaly, cerebellar abnormalities, hydrocephalus, and eye malformations. (biomedcentral.com)
  • An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. (expasy.org)
Heterotopia2
  • Dobyns: The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. (thefreedictionary.com)
  • Type II lissencephaly is characterized by a complete disorganization of the cortex, without discernible layering, and by the presence of gliomesenchymal cell proliferations and neuroglial heterotopia in the leptomeninges [ 8 ]. (beds.ac.uk)
Lissencephalies1
  • Heterotopias resembling those found in cobblestone lissencephalies in which neuroepithelial cells migrate into superficial layers of the developing cortex, aberrant cortical projections and loss of infrapyramidal mossy fibers arise in FE65/FE65L1 compound null animals, but not in single gene knockouts. (embopress.org)
Forms of lissencephaly have been described1
  • multiple forms of lissencephaly have been described and their current classification is based on the associated malformations and underlying aetiology. (malacards.org)
Result in cobblestone1
  • deficiencies in and nitric oxide signalling result in cobblestone brain appearance, resembling human lissencephaly type II phenotype. (ece-inhibitor.com)
Cerebral4
  • Disruptions of cerebral cortical development due to abnormal neuronal migration and positioning usually lead to cortical disorders, which includes cobblestone lissencephaly. (wikipedia.org)
  • it is characterised by global disorganisation of cerebral organogenesis with an uneven cortical surface (with a pebbled or cobblestone appearance). (malacards.org)
  • We report a specific sonographic cerebral pattern of cobblestone lissencephaly (CL) that has not been described previously. (diseaseinfosearch.org)
  • Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. (beds.ac.uk)
Genetic4
  • There are also a number of genetic causes of lissencephaly, including mutation of the reelin gene (on chromosome 7), as well as other genes on the X chromosome and on chromosome 17. (wikipedia.org)
  • Genetic counseling is usually offered if there is a risk of lissencephaly, coupled with genetic testing. (wikipedia.org)
  • The cause of lissencephaly has been linked to both genetic and non-genetic factors. (wikipedia.org)
  • Yoshioka and Kuroki performed clinical and genetic studies in 41 families with FCMD in Japan in an attempt to distinguish it from the Walker-Warburg syndrome and muscle-eye-brain disease, both of which, like FCMD, show an association of type II lissencephaly and ocular anomalies. (moodmakers.info)
Anomalies7
  • MDDGA4 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies. (abcam.com)
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. (abcam.com)
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. (avivasysbio.com)
  • Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g. (bvsalud.org)
  • Lissencephaly is a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers. (blueprintgenetics.com)
  • Children with lissencephaly have feeding and swallowing problems, muscle tone anomalies (early hypotonia and subsequently limb hypertonia), seizures (in particular, infantile spasms) and severe psychomotor retardation. (blueprintgenetics.com)
  • The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. (cdc.gov)
Fukuyama6
  • Cobblestone (type II) lissencephaly and mental retardation are characteristic features of a subset of congenital muscular dystrophies that include Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama-type congenital muscular dystrophy. (jneurosci.org)
  • A subset of congenital muscular dystrophies (CMDs), including Fukuyama-type congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS), feature brain defects that include cobblestone (type II) lissencephaly ( Muntoni and Voit, 2004 ). (jneurosci.org)
  • Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Fukuyama congenital muscular dystrophy. (medlineplus.gov)
  • Cobblestone lissencephaly is typically seen in three different human congenital muscular dystrophy syndromes: Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, and muscle-eye-brain disease. (wikipedia.org)
  • cobblestone lissencephaly (formally referred to as type ii) is present in three entities: the walker-warburg, fukuyama and meb (muscle-eye-brain) syndromes (see these terms). (malacards.org)
  • Cobblestone lissencephaly is a severe neuronal migration disorder associated with congenital muscular dystrophies (CMD) such as Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama-type CMD. (biomedcentral.com)
Genes2
  • The genes associated with lissencephaly are still being discovered however due to advances in genetics individual genes are being identified as the cause of lissencephaly. (wikipedia.org)
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Lissencephaly in a table called Phenotypic Series. (cdc.gov)
Platelet-activating factor acet1
  • An important gene associated with Lissencephaly is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways/superpathways are Reelin Pathway (Cajal-Retzius cells) and Guidance Cues and Growth Cone Motility . (malacards.org)
Severe2
  • the epilepsy is often resistant to treatment.prognosisthe encephalopathy associated with lissencephaly is often very severe and affected children are completely dependent on their carer.visit the orphanet disease page for more resources. (malacards.org)
  • The encephalopathy associated with lissencephaly is often very severe and affected children are completely dependent on their carer. (cdc.gov)
Human lissencephaly1
  • LIS1, the product of a causal gene for human lissencephaly (smooth brain), has also been implicated in dynein function based on studies in fungi and more recent studies in higher eukaryotic systems (for review see Gupta et al. (curehunter.com)
Disorders4
  • Lissencephaly (meaning "smooth brain") is a set of rare brain disorders where the whole or parts of the surface of the brain appear smooth. (wikipedia.org)
  • Lissencephaly is one of a heterogenous group of disorders arising from aberrant neuronal migration. (biomedcentral.com)
  • Pachygyria is considered a subtype of lissencephaly which, in turn, is a spectrum of disorders caused by abnormal neuronal migration. (candicelange.com)
  • 1] These disorders have been discussed classically under umbrella of lissencephaly, which means "smooth brain. (candicelange.com)
Types of lissencephaly2
  • There are anatomical symptoms that differ across the two main types of lissencephaly, Classical (Type I) and Cobble Stone (Type 2). (wikipedia.org)
  • Three main types of lissencephaly have been identified and although all types display the similar symptoms the pathogenesis of each type varies. (wikipedia.org)
Dysplasia1
  • Cobblestone lissencephaly encompasses a spectrum of brain malformations, including cerebellar dysplasia, due to defects in neuronal migration. (biomedcentral.com)
LIS11
  • The mutation or deletion involving LIS1 is associated with both Isolated Lissencephaly Syndrome and Miller-Dieker syndrome. (wikipedia.org)
Mental retardation1
  • During development, defects in the glycosylation of α-dystroglycan that impair its ability to interact with the extracellular matrix (ECM) are frequently associated with cobblestone lissencephaly and mental retardation. (cf.ac.uk)
Agyria1
  • Lissencephaly refers to a 'smooth brain' with absent gyri (agyria) or abnormally wide gyri (pachygyria). (blueprintgenetics.com)
Extracellular matrix2
  • miRNA-based buffering of the cobblestone-lissencephaly-associated extracellular matrix receptor ​dystroglycan via its alternative 3′-UTR. (mpg.de)
  • Yatsenko AS, Marrone AK, Shcherbata HR. miRNA-based buffering of the cobblestone-lissencephaly-associated extracellular matrix receptor dystroglycan via its alternative 3′-UTR. (springer.com)
Phenotypes1
  • In ric-8a mutants, ectopic neurons are found at the pial surface, in association with breaks in the basement membrane, similar to phenotypes in type II (cobblestone) lissencephaly in humans. (wisc.edu)
Miller-Dieker1
  • Lissencephaly is related to lissencephaly 1 and miller-dieker lissencephaly syndrome . (malacards.org)
Dystroglycan2
  • KEYWORDS dystroglycan, glycosylation, laminin, lissencephaly, neuromuscular junction, skeletal muscle REVIEW CRITERIA PubMed was searched using Entrez for articles published from January to January Search terms included dystroglycan, muscular dystrophy, congenital muscular dystrophy, and muscle and glycosylation. (healthdocbox.com)
  • The CNS lesion of FCMD is characterized by cobblestone lissencephaly, associated with decreased glycosylation of α-dystroglycan in the glia limitans where the basement membrane is formed. (eurekaselect.com)
Type3
  • The incidence of all forms of type I lissencephaly is around 1/100,000 births. (blueprintgenetics.com)
  • The pathological features reported are consistent with the type LCH-b (lissencephaly with cerebellar hypoplasia group b) defined in human medicine. (beds.ac.uk)
  • Although exact incidence of this disorder is not known, the incidence of all forms of Type I lissencephaly is estimated to be 1 in 100,000 births. (candicelange.com)
Syndrome2
  • A persistently and significantly small fetal head with normal-appearing sonographic anatomy may, for example, reveal a lissencephaly syndrome on MRI exam. (thefreedictionary.com)
  • Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern. (diseaseinfosearch.org)
Autosomal recessive1
  • The study describes the clinical and pathological findings of lissencephaly with cerebellar hypoplasia in Churra lambs for which an autosomal recessive inheritance was the most likely cause. (beds.ac.uk)
Pachygyria1
  • Lissencephaly ("smooth brain") is the extreme form of pachygyria. (wikipedia.org)
Cortical surface2
  • Cobblestone lissencephaly is named after the pebbled or cobblestone appearance of the cortical surface. (wikipedia.org)
  • In lissencephaly, few or no sulci are seen on the cortical surface, resulting in a broad, smooth appearance to the entire brain. (wikipedia.org)
Gyri3
  • It is the disruption of the radial and tangential migration that causes reduced or absence gyri that is known as lissencephaly. (wikipedia.org)
  • Lissencephaly is characterized by a smooth brain surface due to a lack of gyri and sulci. (thefreedictionary.com)
  • The characteristic 'smooth brain', due to a paucity of normal gyri and sulci, is due to either the arrest of neuronal migration (classical) or an over-migration of neurons (cobblestone). (biomedcentral.com)
Subtypes1
  • There are two pathologic subtypes: classical and cobblestone. (eurekaselect.com)
Glycosylation1
  • Our study demonstrates that TMTC3 regulates O-linked glycosylation and cadherin-mediated adherence, providing insight into its effect on cellular adherence and migration, as well the basis of TMTC3-associated Cobblestone lissencephaly. (xenbase.org)
Seizures1
  • [2] We describe an extremely rare association of lissencephaly with CMN without any NCM in a 2-year-old male child with refractory seizures and developmental delay. (ijpd.in)
Patients1
Differential1
  • This report suggests that lissencephaly should be considered in the differential diagnosis of congenital neurological disease in newborn lambs showing weakness, inability to walk and difficulty sucking. (beds.ac.uk)
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