"Lafora Disease". AGSD-UK. 2018-10-17. Retrieved 2021-11-28. "Lafora disease , Genetic and Rare Diseases Information Center ( ... Lafora disease is distinguished by the presence of inclusions called Lafora bodies within the cytoplasm of cells. Lafora bodies ... "Lafora disease research". www.canineepilepsy.co.uk. Retrieved 2017-11-07. Minassan (2000). "Lafora's Disease:Towards a Clinical ... Lafora is a rare disease, meaning it is very rare in children, adolescents and adults worldwide. However, Lafora disease has a ...

Lafora disease Nanduri, Anish S; Kaushal Neal; Clusmann Hans; Binder Devin K (June 2008). "The maestro don Gonzalo Rodríguez- ... "Lafora disease". In total, he published approximately 200 papers covering a wide range of subjects in neurology, psychiatry, ... Gonzalo Rodríguez Lafora (25 July 1886 - 27 December 1971) was a Spanish neurologist. He was a disciple of Nicolás Achúcarro ... In 1913, Lafora described another case, and acknowledged Lewy as the discoverer, naming them cuerpos intracelulares de Lewy ( ...

Gaucher's disease can be diagnosed through enzyme testing as it is a metabolic disease. Lafora's disease can be diagnosed using ... ULD was not recognized as a disease until a century later due to the rarity of the disease. In 1911, Lafora identified Lafora ... Unverricht-Lundborg disease (Baltic myoclonus) Myoclonus epilepsy and ragged red fibres (MERRF syndrome) Lafora disease ... form of Gaucher disease Tetrahydrobiopterin deficiencies Alpers disease Juvenile Huntington disease Niemann-Pick disease type C ...

Lafora disease is considered a complex neurodegenerative disease and also a glycogen metabolism disorder. Polyglucosan storage ... "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international ... Pompe Disease is also known as GSD-II). A non-profit, federation of Pompe disease patient's groups world-wide. It seeks to ... Loss of cortical neurons underlies the neuropathology of Lafora disease. Mol Brain 2014;7:7 PMC 3917365 Hedberg-Oldfors C, ...

Goldsmith D, Minassian BA (2016). "Efficacy and tolerability of perampanel in ten patients with Lafora disease". Epilepsy Behav ... It is a disease that presents Myoclonus as a sequela of hypoxic disorders in the brain due to asphyxiation and cardiopulmonary ... 2017). "Perampanel in 12 patient swith Unverricht-Lundborg disease". Epilepsia. 58: 543-547. doi:10.1016/j.yebeh.2016.06.041. ...

... regulates autophagy via Mammalian target of rapamycin, which is impaired in Lafora disease. Ortolano S, Vieitez I, Agis ... which is mutated in patients with Lafora disease. It contains a dual specificity phosphatase domain (DSP) and a carbohydrate ... "Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease". Molecular Brain. 7: 7. doi:10.1186/1756- ... the most common protein mutated in Lafora disease, regulates autophagy". Human Molecular Genetics. 19 (14): 2867-76. doi: ...

2006). "Lafora disease due to EPM2B mutations: a clinical and genetic study". Neurology. 64 (6): 982-6. doi:10.1212/01.WNL. ... Gentry MS, Worby CA, Dixon JE (2005). "Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and ... Mittal S, Dubey D, Yamakawa K, Ganesh S (2007). "Lafora disease proteins malin and laforin are recruited to aggresomes in ... GeneReviews/NCBI/NIH/UW entry on Progressive Myoclonus Epilepsy, Lafora Type v t e (Articles with short description, Short ...

Lafora disease is a rare genetic disorder marked by the presence of abnormal polyglucosan deposits. These "Lafora bodies" ... Niemann-Pick disease type C, another lipid storage disease, includes abnormal lipid storage in sweat glands. Schindler disease ... Some diseases of the sweat glands include: Fox-Fordyce disease The apocrine sweat glands become inflamed, causing a persistent ... "Diagnosis by axilla skin biopsy in an early case of Lafora's disease". Journal of Neurology, Neurosurgery, and Psychiatry. 55 ( ...

Parkinson's disease, Lafora disease, Alzheimer's disease, atherosclerosis, heart failure, myocardial infarction, fragile X ... Parkinson's disease, Alzheimer's disease, Huntington's disease, depression, and multiple sclerosis. It is also indicated in ... 2015). "Increased oxidative stress and impaired antioxidant response in Lafora disease". Molecular Neurobiology. 51 (3): 932- ... Oxidative stress is suspected to be important in neurodegenerative diseases including Lou Gehrig's disease (aka MND or ALS), ...

Spanish neurologist Lafora disease, genetic disorder This page lists people with the surname Lafora. If an internal link ... Lafora is a surname. Notable people with the surname include: Alfredo de Zavala y Lafora (1893-1995), Spanish lawyer Carlos ... Rodríguez Lafora (1884-1966), Spanish chess player and chess composer Gonzalo Rodríguez Lafora (1886-1971), ...

During his early days at IITK, he led a team of scientists researching on the Lafora disease (LD) to establish the role played ... "Suppression of leptin signaling reduces polyglucosan inclusions and seizure susceptibility in a mouse model for Lafora disease ... Known for his pioneering studies on Lafora progressive myoclonic epilepsy and other neurodegenerative disorders, Ganesh is an ... Later, he focused his work to other neurodegenerative disorders such as central nervous system diseases, cardiovascular ...

Lafora disease usually occurs in late childhood and usually leads to death around 10 years after first signs of the disease. ... Lafora disease is also known as Lafora progressive myoclonus epilepsy, which is an autosomal recessive inherited disorder ... "Lafora progressive myoclonus epilepsy". Genetics Home Reference. "Unverricht-Lundborg disease". Genetics Home Reference. Mole, ... All diseases in this group are lysosomal-storage disorders that also lead to death roughly ten years after onset of the disease ...

Using morphological methods, he studied progressive myoclonus epilepsy (lafora disease), an autosomal recessive disease with ... Internal diseases during pregnancy is a further focus of his work, about which he has published He is the author or co-author ... Much of his scientific work focusses on diseases of the gastro-intestinal tract, the liver, problems of metabolism and ... He studiedenzyme diagnostics of liver and bile duct diseases and the further development of endoscopic procedures in adults and ...

Lafora disease is inherited as an autosomal recessive disorder, meaning that the disease occurs only when a child inherits two ... Parkinson's disease, Alzheimer's disease, opsoclonus myoclonus, Creutzfeldt-Jakob disease, Lyme disease and lupus. Myoclonic ... Parkinson's disease, dystonia, cerebral palsy, Alzheimer's disease, Gaucher's disease, subacute sclerosing panencephalitis, ... Lafora disease is characterized by myoclonus, epileptic seizures, and dementia (progressive loss of memory and other ...

Joseph, Rajiv Madathiparambil (15 December 2013). "Neuronatin gene: Imprinted and misfolded: Studies in Lafora disease, ... dephosphorylation and activation of the enzyme glycogen synthase may also play an indirect role in contributing to the disease ...

Lafora disease (EPM2a or EMP2b), Neuronal ceroid lipofuscinosis (NCL) and sialidosis. Progressive myoclonic epilepsies ... Unverricht-Lundborg disease was first known as one of two different diseases, depending on the location of the individual who ... For early Unverricht-Lundborg disease patients, the disease would begin to progress early and lack of effective treatment meant ... A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression. Neurobiology of Disease 25:675-85 Warmouth G., ...

For juvenile-onset disease, familial essential myoclonus and epilepsy (FEME), Lafora, Unverricht-Lundborg, Neuroaxonal ... Of these diseases, DRPLA is most similar to Huntington's disease.[citation needed] DRPLA can be juvenile-onset (. 40 years). ... In similar polyQ diseases, the association of this PML shell has been shown to be size-dependent with larger NIIs being PML ... It is also known as Haw River Syndrome and Naito-Oyanagi disease. Although this condition was perhaps first described by Smith ...

Lafora disease, neuronal ceroid lipofucinosis, and sialdosis. Rasmussen's encephalitis is a symptomatic localization-related ... Diseases usually classified in this group are Unverricht-Lundborg disease, myoclonus epilepsy with ragged red fibers (MERRF ... Epilepsies with onset in childhood are a complex group of diseases with a variety of causes and characteristics. Some people ... Others have underlying inherited metabolic diseases, chromosomal abnormalities, specific eye, skin and nervous system features ...

He has also identified new targets in diseases such as Lafora disease, a form of epilepsy, autism and Angelman syndrome which ... "Azadiradione Restores Protein Quality Control and Ameliorates the Disease Pathogenesis in a Mouse Model of Huntington's Disease ... He led a team of scientists from NBRC and Bose Institute who conducted experiments on Huntington's disease, an inherited ... He has delivered keynote or invited speeches at seminars such as the International Conference on Neurodegenerative Diseases: ...

... including Lafora disease, dentatorubropallidoluysian atrophy, and celiac disease. The diagnosis of Ramsay Hunt syndrome type 1 ... Lu CS, Thompson PD, Quinn NP, Parkes JD, Marsden CD (1986). "Ramsay Hunt syndrome and coeliac disease: a new association?". ... of a regulatory mechanism between cerebellar and brainstem nuclei and has been associated with a wide range of diseases, ...

Huntington disease MeSH C16.320.400.480 - Lafora disease MeSH C16.320.400.500 - Lesch-Nyhan syndrome MeSH C16.320.400.520 - ... Tay-Sachs disease MeSH C16.320.565.150.435.825.300.300.920 - Tay-Sachs disease, AB variant MeSH C16.320.565.150.435.825.300.400 ... glycogen storage disease type I MeSH C16.320.565.202.449.500 - glycogen storage disease type II MeSH C16.320.565.202.449.510 - ... glycogen storage disease type IV MeSH C16.320.565.202.449.560 - glycogen storage disease type V MeSH C16.320.565.202.449.580 - ...

... type C Lactate dehydrogenase deficiency Lactic acidosis congenital infantile Ladda-Zonana-Ramer syndrome Lafora disease ... This is a list of diseases starting with the letter "L". Diseases Alphabetical list 0-9 A B C D E F G H I J K L M N O P Q R S T ... disease Lehman syndrome Leichtman-Wood-Rohn syndrome Leifer-Lai-Buyse syndrome Leigh disease Leigh syndrome, French Canadian ... beta-mannosidase deficiency Lysosomal glycogen storage disease with normal acid maltase activity Lysosomal storage disease ( ...

Hermann Küttner Lafora's disease - Gonzalo Rodriguez Lafora Laron syndrome - Zvi Laron Laurence-Moon syndrome - John Zachariah ... Begbie disease, Flajan disease, Flajani-Basedow syndrome, Graves disease, Graves-Basedow disease, Marsh disease, Morbus Basedow ... Disease naming structures which reference place names (such as Bornholm disease, Lyme disease, and Ebola virus disease) are ... examples being Lou Gehrig disease, Hartnup disease, and Mortimer disease. In one instance, Machado-Joseph disease, the eponym ...

... huntington disease MeSH C10.574.500.529 - lafora disease MeSH C10.574.500.536 - lesch-nyhan syndrome MeSH C10.574.500.540 - ... lewy body disease MeSH C10.228.140.079.862.500 - parkinson disease MeSH C10.228.140.079.862.800 - parkinson disease, secondary ... lewy body disease MeSH C10.228.662.600.400 - parkinson disease MeSH C10.228.662.600.700 - parkinson disease, secondary MeSH ... lafora disease MeSH C10.228.140.490.250.650.700 - merrf syndrome MeSH C10.228.140.490.250.650.900 - unverricht-lundborg ...

Gene identification in Lafora Epilepsy (with Berge Minassian) and its canine counterpart A disease-relevant MECP2 isoform ... Research at TCAG focuses on the genetic and genomic basis of human variability, health and disease, including research on the ... the Canadian Genetic Diseases Network (CGDN) large insert clone core, the CGDN DNA Sequencing Core and the SickKids ... to be used as controls in studies of common diseases. To efficiently complete this project, TCAG partnered with John ...

The disease would not become known as Alzheimer's disease until 1910, when Kraepelin named it so in the chapter on "Presenile ... he was substituted by Gonzalo Rodríguez Lafora. Alzheimer was known for having a variety of medical interests including ... "Prague: What say you, Alois - Should it be 'Alzheimer-Fischer' disease?". Journal of Alzheimer's Disease. 17 (3). "Tuebingen: ... By 1911, his description of the disease was being used by European physicians to diagnose patients in the US. American Solomon ...

Lafora disease, lymphoma, multiple myeloma, myotonic dystrophy, Parkinson's disease, Pelizaeus-Merzbacher disease, and prion ... non-alcoholic fatty liver disease, Parkinson's disease, prostate cancer, Stargardt disease, STAT3-expressing cancers, Usher ... Several ASOs are currently being investigated in disease models for Alexander disease, ATXN2 (gene) and FUS (gene) amyotrophic ... "Summary Report" (PDF). Pollack A (29 January 2013). "F.D.A. Approves Genetic Drug to Treat Rare Disease". The New York Times. " ...

Named along with German neurologist Adolph Strümpell (1853-1925). The disease is sometimes referred to as "Bekhterev Disease"; ... Marie at the beginning of the 20th century account the Spanish neuropathologists Nicolás Achúcarro and Gonzalo Rodríguez Lafora ... Charcot-Marie-Tooth disease Archived 2011-05-14 at the Wayback Machine @ Who Named It Tumblety, Joan (2012). Remaking the Male ... His analysis of the disease was an important contribution in the emerging field of endocrinology. Marie is also credited as the ...

Lafora disease Lesch-Nyhan syndrome (juvenile gout) Lichen amyloidosis Limited joint mobility Lipoid proteinosis (hyalinosis ... Adult linear IgA disease Bullous pemphigoid Bullous lupus erythematosus Childhood linear IgA disease (chronic bullous disease ... Weil's disease) Listeriosis Ludwig's angina Lupoid sycosis Lyme disease (Afzelius' disease, Lyme borreliosis) Lymphogranuloma ... Haxthausen's disease) Keratosis punctata palmaris et plantaris (Buschke-Fischer-Brauer disease, Davis Colley disease, ...

... see Spinal muscular atrophy Lafora disease Lambert-Eaton myasthenic syndrome Landau-Kleffner syndrome Lateral medullary ( ... disease Paraneoplastic diseases Paroxysmal attacks Parry-Romberg syndrome Pelizaeus-Merzbacher disease Periodic paralyses ... neurological sequelae Lyme disease Machado-Joseph disease Macrencephaly Macrocephalia Macropsia Mal de debarquement ... Phantom pain Photic sneeze reflex Phytanic acid storage disease Pick's disease Pinched nerve Pituitary tumors Polyneuropathy ...