• Background Mitochondrial progressive external ophthalmoplegia (PEO) encompasses a broad spectrum of clinical and genetic disorders. (bmj.com)
  • CMT disease is a heterogeneous group of genetically distinct disorders with similar clinical presentations. (medscape.com)
  • This translational (turning discoveries into practical applications) research is focused on understanding genetics and the basis of genetic disorders in children, as well as interactions between the environment and genes that contribute to human malformations. (nemours.org)
  • His studies of the molecular defects underlying selected inherited neuromuscular diseases, including amyotrophic lateral sclerosis (Lou Gehrig's disease), a form of muscular dystrophy, one form of periodic paralysis, and a familial nerve disease, have resulted in identifying the gene defects triggering these disorders. (harvard.edu)
  • Other than trauma, genetic abnormalities underlie the vast majority of neurological disorders. (osu.edu)
  • Research emphasis by faculty in this area includes studies focused on the development and plasticity of neural circuits, traumatic brain injury, spinal cord injury, neuromuscular diseases, movement disorders, neuroimmunology, neurotrauma and regeneration of circuits in the nervous system, circadian cycle neurobiology. (osu.edu)
  • The core curriculum will provide the major foundation for graduate students requesting the transcript designation of neurological and neuromuscular disorders. (osu.edu)
  • All students requesting the transcript designation "Neurological and Neuromuscular Disorders" will be required to register in relevant classes to reach a total of 13 credit hours beyond the core curriculum. (osu.edu)
  • This course discusses research and clinical applications of inflammatory processes within the central nervous system with special emphasis on neurodegenerative disorders, autoimmune disease, and neurotrauma (e.g. spinal injury). (osu.edu)
  • Charcot-Marie-Tooth disease and related disorders: an evolving landscape. (cdc.gov)
  • Neuromuscular disorders and transition from pediatric to adult care in a. (actamyologica.it)
  • Neuromuscular disorders (NMDs) are a genetically and phenotypically heterogeneous group of diseases affecting the neuromuscular system, namely the anterior horn cell, the peripheral nerve, the neuromuscular junction, or the muscle itself. (actamyologica.it)
  • In collaboration with the National Task Force for Early Identification of Childhood Neuromuscular Disorders, the CDC developed a Web-based diagnostic tool, www.childmuscleweakness.org , to assist providers in primary care, rehabilitation medicine, and physical and occupational therapy in the evaluation of children with motor delay and early manifestations of neuromuscular disorders. (medscape.com)
  • Professor Straub splits his time between research and clinical commitments, with a focus on neuromuscular disease, and he provides leadership across the five strands of the centre.Professor Straub has recently been joined by Professor Jordi Díaz-Manera who is working as Professor of Neuromuscular Disorders and as Honorary Consultant Clinical Geneticist with the Newcastle Hospitals NHS Foundation Trust. (newcastle-muscle.org)
  • Her research interests lie in the molecular analysis of human genetic disease, particularly the genetic basis of neuromuscular and neurological disorders. (ox.ac.uk)
  • However, variation in microsatellite size is also the source of devastating disorders, as more than 40 inherited developmental, neuromuscular and neurodegenerative human genetic diseases are caused by microsatellite expansions. (igbmc.fr)
  • Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) and Neuronal Intranuclear Inclusions Disease (NIID) are rare neurodegenerative disorders due to small expansions of GGC repeats located in the 5'UTR of the FMR1 and NOTCH2NLC genes, respectively. (igbmc.fr)
  • Hopefully, our work will help to clarify the causes and mechanisms of cell dysfunctions in these inherited disorders, but also provides novel cell and animal model to develop innovative therapeutic approaches for these devastating diseases. (igbmc.fr)
  • Myotonia Atrophica / Myotonic dystrophy is characterized by progressive multisystem genetic impairment in relaxation of muscles after voluntary contraction due to repetitive depolarization of the muscle membrane disorders muscle wasting and weakness. (rxharun.com)
  • We are committed to making sure that all of our fellows are well trained and board certified so that they are ready, willing and able to provide capable and compassionate care to patients with a broad range of neuromuscular disorders. (jacksonhealth.org)
  • What Are Neuromuscular Disorders? (labcorp.com)
  • Neuromuscular disease is a broad term used to describe a variety of disorders that impair the functionality of muscles either directly, as pathologies of the voluntary muscle, or indirectly, as pathologies of the nerves or neuromuscular junctions. (labcorp.com)
  • 1 These rare disorders can result from a variety of genetic abnormalities, including repeat expansions, copy number variations (CNV), single-nucleotide changes, and variations in the mitochondrial genome. (labcorp.com)
  • While some neuromuscular disorders have distinct phenotypes, many patients do not present with symptoms that allow unequivocal diagnosis. (labcorp.com)
  • As a market leader in the diagnosis of rare inherited neurological disorders, MNG, a LabCorp Company, offers a robust menu of targeted next-generation sequencing (NGS) panels and molecular diagnostic tests for finding the potential genetic source(s) for neuromuscular disease including mitochondrial sequencing and deletion analysis, repeat expansion testing, and single-exon resolution copy number analysis of the genes in our NGS panels. (labcorp.com)
  • Whole-exome sequencing (WES) was used to evaluate 564 patients with neurodevelopmental disorders, such as developmental delay (DD), ID, epilepsy, neuromuscular disease, and central nervous system (CNS) anomalies, at the Medical Genetic Center of the Asan Medical Children's Hospital, Seoul, Korea, from March 2018 to October 2020. (biomedcentral.com)
  • Scribe Therapeutics' CRISPR by Design will be combined with Prevail Therapeutics' knowledge in developing genetic medicines to treat neurological disorders. (bioprocessintl.com)
  • neurodevelopmental, metabolic and neuromuscular disorders. (nih.gov)
  • She deals with female patients having a prenatal diagnosis and couples who have problems associated with reproductive disorders, the study of the causes of fetal defects and neurodegenerative diseases, in particular Huntington's disease, spinocerebral ataxia, neuromuscular diseases and problems associated with metabolic diseases. (fertimedica.pl)
  • In 2014 she defended her doctoral thesis on genetic disorders affecting mental disorders, cardiac abnormalities and fetal defects. (fertimedica.pl)
  • At that time, the differentiation between the spinal muscular atrophies and weakness associated with central nervous system disorders and primary muscle disease had not been established. (medscape.com)
  • Limb-girdle muscular dystrophies (LGMDs) are neuromuscular and genetic disorders that progress with weakness and damage of the proximal muscles, developing with loss of functionality. (bvsalud.org)
  • The child was one of six cases in which TGen sequenced -- or decoded -- the genes of patients with Neuromuscular Disease (NMD) and was then able to identify the genetic source, or likely genetic source, of each child's symptoms, according to a study published April 8 in the journal Molecular Genetics & Genomic Medicine . (sciencedaily.com)
  • Working with Christian Pizarro, MD , director of the Nemours Cardiac Center, we're studying the molecular genetics of hypoplastic left heart syndrome, a congenital (present from birth) heart defect in which the left ventricle of the heart is severely underdeveloped. (nemours.org)
  • The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). (iospress.com)
  • Dennis Kasper , executive dean for academic programs at HMS and the director of the Channing Laboratory, is a professor of microbiology and molecular genetics whose research is focused on the pathogenesis of bacterial infections and the interaction of these organisms with the host. (harvard.edu)
  • Elliot Kieff , the Harriet Ryan Albee Professor of Medicine and professor of microbiology and molecular genetics, is the co-director of the Channing Laboratory, whose lab has pioneered the genetics and biochemistry of the Epstein - Barr virus infection. (harvard.edu)
  • Neuromuscular disease genetics in underrepresented populations: increasing data diversity. (ucl.ac.uk)
  • After 29 years at Newcastle University, Professor Katie Bushby MD FRCP has announced her retirement as Professor of Neuromuscular Genetics from the end of May. (newcastle-muscle.org)
  • Timmerman V, Strickland AV, Züchner S. Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success. (digitis.net)
  • Nusara studied medical technology at Faculty of Allied Health Sciences at Chulalongkorn University in Bangkok, Thailand and she received Ph.D. in microbiology and immunology with focus on molecular biology from Virginia Commonwealth University where she developed her interests in gene expression analysis, gene signaling and human genetics. (isctglobal.org)
  • For these reasons, I want to obtain a better understanding about these diseases and their molecular, cellular and genetic causes, in the context of "molecular biology and genetics" education. (worldmusclesociety.org)
  • This motivation led to a desire of education in molecular biology and genetics. (worldmusclesociety.org)
  • The number of physicians specializing in pediatric neuromuscular diseases and genetics in Turkey is quite low compared to the population. (worldmusclesociety.org)
  • For the first five years she worked as a cytogeneticist in the Department of Genetics of the Institute of Psychiatry and Neurology and took a training course in classical and molecular techniques of human chromosome analysis. (fertimedica.pl)
  • Advances in molecular genetics have help in the discovery of significant information on the relationship between muscle biology and clinical neuromuscular diseases. (medscape.com)
  • Robert Brown Jr. is a professor of neurology and director of the Day Neuromuscular Research Laboratory at Massachusetts General Hospital. (harvard.edu)
  • The Neuromuscular Medicine (Neurology) Fellowship Program is dedicated to the education and training of the next generation of neuromuscular specialists through broad exposure to general neuromuscular disease, specialist neuromuscular disease programs, electrodiagnostic studies and neuromuscular pathology. (jacksonhealth.org)
  • We appreciate your interest in our program and look forward to showing you what makes us so proud of the University of Miami/Jackson Health System Neuromuscular Medicine (Neurology) Fellowship Program. (jacksonhealth.org)
  • The motivation for researching Charcot-Marie-tooth Disease was the observation of a daily interdisciplinary performance at the Hospital Universit rio Bettina Ferro de Souza - Universidade Federal do Par and Universidade do Estado do Par (University Hospital - Federal University and State University) involving fields as Otorhinolaryngology, Neurology, Pediatrics, Psychology, Social Service Care and Physiology, mainly when concerning assistance to patients with special needs. (arquivosdeorl.org.br)
  • There are major projects in traumatic brain injury in collaboration with the departments of anatomy and neurobiology and physical medicine and rehabilitation , breakthroughs in genetic therapies for neuromuscular diseases in partnership with the department of neurology , multiple studies in addiction medicine with the Institute for Drug and Alcohol Studies , among many others. (chrichmond.org)
  • I received my pediatric neurology fellowship education in Dr Sami Ulus Training and Research Hospital between 2016-2019 while attending a master degree program on pediatric neuromuscular diseases in Hacettepe University Institute of Health Sciences between 2017 and 2019. (worldmusclesociety.org)
  • When I started Pediatric Neurology, my second specialty, I witnessed genome associated molecular and cellular defects causing an unbelievable variety of diseases. (worldmusclesociety.org)
  • I was working as a pediatric neurology specialist medical doctor in a setting where 60-80% of the patients have neurogenetic/ neuromuscular diseases. (worldmusclesociety.org)
  • We accomplish this by providing fellows hands-on training in a broad range of specialty and subspecialty clinical programs, exposure to diverse faculty with particular expertise in a host of different neuromuscular diseases and an environment that is conducive to learning. (jacksonhealth.org)
  • In addition to its educational aspect, it provides an environment where international views are taken and many different neuromuscular diseases are discussed. (worldmusclesociety.org)
  • Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder. (medscape.com)
  • Central core myopathy is a rare, inherited neuromuscular disorder with a wide spectrum of phenotypic presentations. (hkmj.org)
  • The child was one of six cases in which investigators sequenced -- or decoded -- the genes of patients with Neuromuscular Disease and was then able to identify the genetic source, or likely genetic source, of each child's symptoms. (sciencedaily.com)
  • [ 1 ] Its genetic spectrum spans more than 80 genes. (medscape.com)
  • In a novel therapeutic study, Nemours Children's researchers are testing morpholino oligos (molecules used to modify the effect of genes) with children exhibiting Pelizaeus Merzbacher disease (PMD). (nemours.org)
  • Researchers have identified mutations in a number of genes which could be associated with the development of spontaneously occurring cases of ALS, a progressive and fatal neurodegenerative disease in which motor neurons gradually cease to function. (neurosciencenews.com)
  • The Centre has contributed in an important way to the discovery of genetic mechanisims in neuromuscular diseases through the identification of new genes in the field of these diseases and in forms of genetically determined dementia. (centrodinoferrari.com)
  • We therefore screened individuals who had been found to bear variants in a non-expansion SCA-associated gene through genetic testing, and after we eliminated genetic groups that had fewer than 30 subjects, there were 756 subjects bearing single-nucleotide variants or deletions in one of seven genes: CACNA1A (239 subjects), PRKCG (175), AFG3L2 (101), ITPR1 (91), STUB1 (77), SPTBN2 (39), or KCNC3 (34). (bvsalud.org)
  • Our neuromuscular disease offerings also encompass a robust catalog of panels focused on neuropathies, including our Comprehensive Neuropathies panel, which features over 400 genes clinically relevant to neuropathic disease and complimentary mtDNA sequencing. (labcorp.com)
  • Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases. (digitis.net)
  • Candidate Genes: Not enough evidence in humans, but potentially associated with the disease. (digitis.net)
  • 5 kb) genes in the retina for treating Stargardt disease and Usher Syndrome type I B, both of which cause untreatable forms of blindness. (stanford.edu)
  • The genetic spectrum spans more than 70 genes. (qxmd.com)
  • This course centers on a discussion of both the syptomatology and pathology of neurological diseases as well as a review of the current state of basic and clinical research efforts. (osu.edu)
  • Basic research - The research team conducts basic research into the nature and molecular pathology of neuromuscular diseases using cutting edge genetic techniques. (newcastle-muscle.org)
  • During the initial one-year period, each fellow works with our diverse faculty to achieve comprehensive exposure to the care of patients with a broad range of neuromuscular diseases, as well as electromyography, molecular genetic and neuromuscular pathology services. (jacksonhealth.org)
  • This review highlights new information regarding the virology, clinical manifestations, and pathology of WNV disease, which will provide a new platform for further research into diagnosis, treatment, and possible prevention of WNV through vaccination. (cdc.gov)
  • The pathology and pathogenesis of WNV disease have been described more completely than ever before. (cdc.gov)
  • I aim to learn the pathology of new or newly discovered diseases, new treatment modalities (mainly gene therapies), current clinical and preclinical studies, and to get to know other international researchers. (worldmusclesociety.org)
  • Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases. (cdc.gov)
  • Charcot-Marie-Tooth (CMT) disease, or sensorimotor neuropathy, is the most frequent hereditary neuromuscular disease , with a prevalence of 1/2,500 individuals (Suter and Sherer, 2003). (digitis.net)
  • Charcot-Marie-Tooth is the most common form of inherited peripheral neuropathy and represents the most prevalent hereditary neuromuscular disorder. (qxmd.com)
  • We identified novel expanded repeats that are transcribed into mutant RNA in various related neurodegenerative diseases, and found that these repeats bind and sequester specific RNA binding proteins leading, in trans, to mRNA metabolism alterations that may explain the neuronal cell dysfunctions and the symptoms of these diseases. (igbmc.fr)
  • Neurodegeneration and neurodegenerative diseases (including the shared mechanisms of nerve cell death that contribute to many diseases), Vascular Cognitive Impairment and Dementia (VCID), NINDS tissue/cell resources, basic invertebrate neuromuscular junction (NMJ). (nih.gov)
  • Brown has studies under way to define the genetic mechanisms that cause paralysis. (harvard.edu)
  • Kieff's recent work has explored the mechanisms by which this virus persists in cells, alters lymphocyte growth, and causes lymphomas and Hodgkin's disease. (harvard.edu)
  • Thus, studies at the molecular, cellular, and systemic level are essential for understanding the mechanisms of disease processes as well as defining resulting phenotypes. (osu.edu)
  • This course investigates the molecular, cellular and genetic mechanisms responsible for building nervous systems. (osu.edu)
  • This course ecplores the cellular and molecular aspects of the microenvironment in solid cancers including signals and mechanisms that promote tumor initiation and progression. (osu.edu)
  • My primary research interests are in molecular mechanisms of gene regulation, particularly those involved in neural development and neural degeneration. (northwestern.edu)
  • Furthermore, we clarified the molecular mechanisms of G4C2 repeats translation into toxic proteins and found a novel synergic mechanism (2-hits) model of toxicity in ALS. (igbmc.fr)
  • The effects of ginseng oligosaccharides (GSOs) on neuronal oxidative injury induced by glutamate (GLU) and the molecular mechanisms involved were investigated. (sdbonline.org)
  • Disease mechanisms in inherited neuropathies. (digitis.net)
  • I want to talk to someone about my research proposal (basic research, neural mechanisms, or disease mechanisms). (nih.gov)
  • From molecular and cellular mechanisms, through injury and repair, to behavior and illness, neuroscience research engages many in both the CHoR and greater VCU community. (chrichmond.org)
  • The phenotypical diversity caused by gene-mediated pathophysiological mechanisms in neuromuscular diseases is incredible. (worldmusclesociety.org)
  • My curiosity about the genomic or non-genomic cellular defects underlying diseases began in the first days of my medical education and gradually evolved into a desire to learn about the fundamental pathophysiologic mechanisms and to provide the optimal management and treatment as I became a pediatrician. (worldmusclesociety.org)
  • As a clinician, when I was face to face with a diverse patient population, I decided that I would not be able to become a medical doctor who could play a role in the development of biomarkers that could aid in diagnosis or be a part of identification of the molecules that could be utilized in the treatment without understanding mechanisms which cause diseases at the cellular, molecular and genomic levels. (worldmusclesociety.org)
  • We use clinical and genetic biomarkers, and to understand underlying mechanisms we perform experimental studies using novel molecular tools along with advanced imaging techniques. (lu.se)
  • and progressive neuromuscular involvement. (nih.gov)
  • Her PhD project is focused on the genetic landscape of mitochondrial disease within Turkey. (worldmusclesociety.org)
  • Animal studies also suggest that hyperactivation of Src, alteration of autophagy and a mitochondrial deficit underlie the neuromuscular degeneration in SBMA and provide alternative therapeutic targets. (kennedysdisease.org)
  • Maple syrup urine disease (MSUD) is rare autosomal recessive metabolic disorder caused by the dysfunction of the mitochondrial branched-chain 2-ketoacid dehydrogenase (BCKD) enzyme complex leading to massive accumulation of branched-chain amino acids and 2-keto acids. (stanford.edu)
  • Researchers have identified a new genetic mutation for amyotrophic lateral sclerosis (ALS), opening the door to future targeted therapies. (neurosciencenews.com)
  • Amyotrophic Lateral Sclerosis and Frontotemporal Dementia (ALS-FTD) is the third neurodegenerative disease worldwide. (igbmc.fr)
  • Synthena AG is developing oligonucleotide based therapeutics primarily for the treatment of genetic neuromuscular diseases by using its tricyclo-DNA molecular platform. (buchiglas.com)
  • In 2013, I re-joined the gene therapy laboratory at Royal Holloway as project manager to work on the optimization of gene therapies and antisense therapeutics for a number of muscle diseases. (royalholloway.ac.uk)
  • Currently, no proven medical treatment exists to reverse or slow the natural disease process for the underlying disorder. (medscape.com)
  • We're also working to identify the genetic factors and modifiers of Costello syndrome (CS), a disorder that can have profound effects on many parts of a child's body, including a predisposition for malignant tumors. (nemours.org)
  • Their causes can be genetic (single gene disorder, polygenic disorder) or nongenetic (infectious, autoimmune, autoinflammatory) 1 , 2 . (actamyologica.it)
  • Glycogen storage disease (GSD) VII (Tarui disease) is an autosomal recessive disorder caused by a deficiency of phosphofructokinase (PFK), the enzyme that catalyzes the rate-limiting step in glycolysis. (medscape.com)
  • Clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy. (cdc.gov)
  • Our division has strong national and international collaborations with neuromuscular disease experts throughout the world with membership in the Canadian Pediatric Neuromuscular Group and the Co-operative International Neuromuscular Research Group (CINRG). (ualberta.ca)
  • Our review shows that few or no studies explored the transi- tion process from pediatric to adult care in neuromuscular diseases and tried to identify a general pattern of transition applicable to all NMDs. (actamyologica.it)
  • Members of this division are internationally recognized experts in the areas of pediatric brain tumors, developmental neuropathology, neurometabolic conditions and neuromuscular disease. (chop.edu)
  • Members of Clinical Neuropathology run and support active translational research programs mainly for pediatric brain tumors, and also include epilepsy, neuromuscular disease, and developmental biology of the nervous system. (chop.edu)
  • In one of the six cases, TGen researchers found a unique disease-causing variant, or mutation, in the CACNA1S gene for a child with severe muscle weakness in addition to ophthalmoplegia, or the inability to move his eyes. (sciencedaily.com)
  • In another closely related case, TGen's genetic testing found a pathogenic variant in the RYR1 gene in a case of calcium channel myopathy. (sciencedaily.com)
  • Without this type of deep genetic analysis, we might never have discovered the source of each of these children's disease," said Dr. Bernes, whose young patients' previous tests included muscle biopsies, EMG, MRI, EKG and limited gene sequencing. (sciencedaily.com)
  • In all three cases, TGen researchers identified a pathogenic variant, or disease-causing mutation, in the COL6A3 gene, or likely pathogenic variants in the COL6A6 gene. (sciencedaily.com)
  • [ 4 ] Gene discovery has been revolutionized by new high-throughput molecular technologies. (medscape.com)
  • Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease. (cdc.gov)
  • Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies. (cdc.gov)
  • The diagnosis was made from the histopathological findings of central cores on muscle biopsy, and confirmed by the molecular genetic testing for the RYR1 gene mutation. (hkmj.org)
  • The most common genetic cause of ALS-FTD is a large expansion of GGGGCC (G4C2) repeats in the first intron of the C9ORF72 gene. (igbmc.fr)
  • I collaborated on the development of a gene therapy AAV vector for Oculopharyngeal Muscular Dystrophy (OPMD), a rare muscle disease. (royalholloway.ac.uk)
  • The Gene Medicine Laboratory for Rare Diseases is focused on finding new treatments for muscle pathologies. (royalholloway.ac.uk)
  • We use gene therapy technologies to target molecular defects in pre-clinical models of rare neuromuscular diseases such as Duchenne muscular dystrophy (DMD), Oculopharyngeal muscular dystrophy (OPMD) and Facioscapulohumeral muscular dystrophy (FSHD). (royalholloway.ac.uk)
  • Dr. Pasqualina Colella is a scientist with extensive expertise in cell therapy and gene therapy approaches for the treatment of inherited diseases. (stanford.edu)
  • As Postdoc she developed innovative in vivo AAV gene therapy approaches based on liver gene transfer or multi-tissue gene expression to target the multi-organ manifestations of Pompe disease, a LSD that presents with neuromuscular impairment. (stanford.edu)
  • The increasing availability and affordability of next-generation sequencing technologies has ramped up gene discovery and drastically changed genetic screening strategies. (qxmd.com)
  • Yet our method had a catch," Escobar says, explaining: "We introduced the genetic instructions for the gene editor into the stem cells using plasmids - which are circular, double-stranded DNA molecules derived from bacteria. (healthcare-in-europe.com)
  • Approximately 100 mutations in the AGL gene have been found to cause glycogen storage disease type III (also called GSDIII or Cori disease). (medlineplus.gov)
  • Standards of care and new genetic and molecular therapies have contributed to increasing life expectancy of patients with neuromuscular dis- eases (NMDs). (actamyologica.it)
  • For many decades, treatment of NMDs has been exclusively symptomatic but in recent years new genetic and molecular therapies and other focused on pathogenic effects are available or under development, provide hope for mitigating secondary pathophysiological consequences or modifying the underlying genetic defect 3-5 . (actamyologica.it)
  • The technology is used for the development of in vivo therapies, and it works by reaching specific targets that are known to cause neurological and neuromuscular diseases. (bioprocessintl.com)
  • Genetic diagnosis was achieved in 96% of the patients. (bmj.com)
  • Reporting these cases raises awareness about how often each child with muscle disease is unique, requiring personalized medical treatment beginning with genetic diagnosis through sequencing like we perform at TGen. (sciencedaily.com)
  • Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease. (cdc.gov)
  • Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation. (cdc.gov)
  • Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. (cdc.gov)
  • The diagnosis of VPS13A disease is established in a proband with suggestive findings and biallelic pathogenic variants in VPS13A identified by molecular genetic testing. (nih.gov)
  • The Centers for Disease Control and Prevention (CDC) also supports early identification and evaluation of motor delays to enable a quicker referral to a specialist for diagnosis. (medscape.com)
  • Several aspects of Charcot-Marie-Tooth disease still continue obscure, being the otolaryngological changes are few investigated, rending difficult a premature and suitable diagnosis and treatment of this changes. (arquivosdeorl.org.br)
  • After graduation, she joined the Department of Medical Sciences at the Ministry of Public Health, Thailand where she continued her research in development of the novel methods for infectious disease diagnosis using molecular techniques and studied human genetic factors associated with susceptibility to infectious diseases. (isctglobal.org)
  • Research in neuroscience extends from studies on the molecular biology of individual nerve cells to the biological basis of normal and disordered behavior and cognition. (osu.edu)
  • To achieve these goals, we developed a wide range of technique and strategies that include Molecular biology and Biochemistry approaches with protein purification and their functional analysis, Omics analyzes (transcriptomic and proteomic), Cell biology (primary human muscle cell culture, iPS from patients, primary mouse neuronal cultures, etc.) and analyzes of transgenic or knockout mouse models. (igbmc.fr)
  • Our research is focused on addressing fundamental aspects of the biology of human neurons in the context of physiological conditions and in the context of disease. (northwestern.edu)
  • Now a large and ever increasing number of genetic subtypes has been described, and major advances in molecular and cellular biology have clarified the understanding of the role of different proteins in the physiology of peripheral nerve conduction in health and in disease. (medscape.com)
  • A study suggests that spinal muscular atrophy (SMA), a genetic neuromuscular disease in infants and children, results primarily from motor circuit dysfunction, not motor neuron or muscle cell dysfunction, as is commonly thought. (neurosciencenews.com)
  • Performing post-mortem staging of the brains and spinal cord tissue of patients with ALS, researchers discover the neurodegenerative disease could progress from one start point in the CNS to other regions of the brain and spinal cord. (neurosciencenews.com)
  • We offer a wide range of consultation services for outside cases including brain biopsies (both tumors and non-neoplastic diseases), muscle biopsies and autopsy brain and spinal cord examination. (chop.edu)
  • Kennedy's disease or spinal bulbar muscular atrophy is a rare, inherited and slowly progressive multisystem disease mostly manifesting with a motor neuron disease phenotype leading to disability. (kennedysdisease.org)
  • This disease was referred to as Hoffman disease and later was known as Charcot-Marie-Tooth-Hoffman disease. (medscape.com)
  • Relationship between care pathway features and use or non-use of orthotic devices by individuals with Charcot-Marie-Tooth disease: a cross-sectional, exploratory study. (cdc.gov)
  • Updated review of therapeutic strategies for Charcot-Marie-Tooth disease and related neuropathies. (cdc.gov)
  • Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform. (cdc.gov)
  • Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. (cdc.gov)
  • Precision Medicine for Charcot-Marie-Tooth Disease. (cdc.gov)
  • Genetic testing practices for Charcot-Marie-Tooth type 1A disease. (cdc.gov)
  • Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease. (cdc.gov)
  • Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. (cdc.gov)
  • Charcot-Marie-Tooth disease is the most common hereditary peripheral neuropathy in humans, presenting incidence of 1: 2500 people. (arquivosdeorl.org.br)
  • Review the literature about aspects of Charcot-Marie-Tooth disease, with emphasis on otolaryngologycal clinical features. (arquivosdeorl.org.br)
  • It was used as methodology consults the on line data bases such as Cochrane, LILACS, MEDLINE, OMIM e SciELO, applying the research the terms Charcot Marie Tooth disease, Hereditary Motor and Sensory Neuropathy Type I and Hereditary Motor and Sensory-Neuropathy Type II, to article published between years 1997 and 2007. (arquivosdeorl.org.br)
  • Clinical features on Charcot-Marie-Tooth disease normally begin between first and second life decade, varying accordingly with disease type, 1 or 2, and the linked genetic mutation. (arquivosdeorl.org.br)
  • Charcot-Marie-Tooth Disease (CMT) is the most common type of Hereditary Peripheral Neuropathy (1) in humans, together with Hereditary Motor and Sensory Neuropathy(2), affecting around 1 in 2,500 people(3). (arquivosdeorl.org.br)
  • To review the literature on different aspects of Charcot-Marie-Tooth Disease, with emphasis on ENT clinical symptoms. (arquivosdeorl.org.br)
  • A list of data basis which was searched follows: Cochrane, LILACS, MEDLINE, OMIM and Scielo, applying to the research the terms Charcot Marie Tooth Disease, Hereditary Motor and Sensory Neuropathy Type I and Hereditary Motor and Sensory-Neuropathy Type II, for articles published between 1997 and 2007. (arquivosdeorl.org.br)
  • The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. (digitis.net)
  • Recent advances in Charcot-Marie-Tooth disease. (qxmd.com)
  • This article focuses on recent advances in Charcot-Marie-Tooth disease, in particular additions to the genetic spectrum, novel paradigms in molecular techniques and an update on therapeutic strategies. (qxmd.com)
  • in others (eg, certain cases of Charcot-Marie-Tooth disease type 1A (CMT1A) and inherited brachial plexus neuropathy [IBPN]/hereditary neuralgic amyotrophy [HNA]), proximal weakness predominates. (medscape.com)
  • For this reason, it is possible to witness an expansion of the phenotypic manifestations of the disease with new or previously subtle organ manifestations 6 . (actamyologica.it)
  • However, even for CMT1 a heated debate has focused on the relative contribution of axonal versus demyelinative damage to the disease manifestations and progression. (medscape.com)
  • We describe the phenotypic subtypes of PEO and its correlation with molecular defects and propose a diagnostic algorithm. (bmj.com)
  • Clinical information and the result of molecular analysis were analyzed to better characterize the phenotypic spectrum of SSRIDDs among Asian populations. (biomedcentral.com)
  • Her decade-long involvement with the Cooperative International Neuromuscular Research Group (CINRG) has produced a large databank of clinical and genetic information and documented improvement in Duchenne muscular dystrophy. (ualberta.ca)
  • Peripheral neuromuscular conditions in which the CK concentration is always elevated from birth include Duchenne muscular dystrophy (MD) and Becker MD, as well as some congenital and limb-girdle MDs. (medscape.com)
  • Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy. (ox.ac.uk)
  • 3] Erb's patient had only shoulder-girdle weakness and atrophy, with sparing of other muscles of the body and a benign disease course compared with that described by Duchenne in the 1860s. (medscape.com)
  • This study analyzed 12 unrelated Korean patients with SSRIDDs confirmed via genetic testing while evaluating the cause of neurodevelopmental delay in these patients. (biomedcentral.com)
  • She is currently co-director of the MDUK Oxford Neuromuscular Centre. (ox.ac.uk)
  • Moreover, USP7 knockdown suppressed disease phenotypes in SBMA and spinocerebellar ataxia type 3 (SCA3) fly models, and monoallelic knockout of Usp7 ameliorated several motor deficiencies in transgenic SBMA mice. (kennedysdisease.org)
  • The overarching goal of our scientific work has been to define key molecular pathways in the pathogenesis of neurodegeneration and to uncover novel targets for therapeutic development. (northwestern.edu)
  • Research on the signs, symptoms, and pathogenesis of WNV disease has greatly intensified in the past 5 years. (cdc.gov)
  • Due to the genetic defect, changes occur in muscular structure and function so that sufferers experience progressive muscle atrophy," explains Professor Simone Spuler, head of the Myology Lab at the Experimental and Clinical Research Center (ECRC), a joint institution of the Berlin-based Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC) and Charité - Universitätsmedizin Berlin. (healthcare-in-europe.com)
  • These inherited enzyme defects usually present in childhood, although some, such as McArdle disease and Pompe disease, have separate adult-onset forms. (medscape.com)
  • In addition, students are required to enroll in the neuroscience seminar course or in a seminar series specifically related to the neurobiology of disease. (osu.edu)
  • Our results demonstrate the diagnostic value of a comprehensive approach to genetic sequencing," said Dr. Baumbach-Reardon. (sciencedaily.com)
  • Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus. (ucl.ac.uk)
  • 20 human genetic diseases, leukemia, aspergillosis, inherited neurodegenerative and neuromuscular diseases, skin diseases and metabolics diseases), may attract foreign investigators to use the expertize and may have economic impact (new diagnostic products introduced on the market thanks to collaboration of MU and company Generi BioTech). (muni.cz)
  • Many neuromuscular conditions increase the risk for malignant hyperthermia with anesthesia use, and anticipated surgery should increase the urgency of a diagnostic evaluation. (medscape.com)
  • In the case of a negative report, each subpanel in the neuromuscular portfolio can be reflexed to the Comprehensive Muscular Dystrophy/Myopathy panel to improve diagnostic sensitivity. (labcorp.com)
  • The expanded knowledge about WNV disease provides a new platform for future development of diagnostic tests, therapy, and vaccine development. (cdc.gov)
  • Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions. (medlineplus.gov)
  • These observations suggest that the CIC-2 currents are affected in SBMA, an alteration that may contribute and potentially determine the pathophysiology of the disease. (kennedysdisease.org)
  • This type of next-generation sequencing can greatly improve the ability to identify pathogenic, or disease-causing, genetic variants with a single, timely, affordable test. (sciencedaily.com)
  • Electromyography (EMG) and nerve conduction studies should be performed first if CMT disease is suggested. (medscape.com)
  • CMT is the most common genetic neuropathy accounting for 80 to 90% of cases 5). (arquivosdeorl.org.br)
  • Rossor AM, Evans MR, Reilly MM. A practical approach to the genetic neuropathies. (digitis.net)
  • The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
  • Centers for Disease Control and Prevention. (cdc.gov)
  • This is the first case of central core myopathy confirmed by molecular study in our locality. (hkmj.org)
  • There are two major forms recognized based on clinical and molecular presentation: Myotonic dystrophy type I (DM1), known as Steinert disease, and myotonic dystrophy type II (DM2), or proximal myotonic myopathy which is a milder variety of DMI. (rxharun.com)
  • Although an elevated CK level warrants prompt referral to a neurologist, a normal level does not rule out neuromuscular disease, and a mildly elevated CK (1-2 times normal) also requires follow-up. (medscape.com)
  • A promising strategy to reduce the impact of viral infectious diseases, such as influenza, is the use of attenuated, live viruses as vaccines. (sciencemission.com)
  • She is currently Research Scientist at Stanford University, where she is developing innovative cell therapy approaches to address neuropathic lysosomal storage diseases (LSDs) using hematopoietic stem cell transplantation (HSCT) and genome editing. (stanford.edu)
  • CMT symptoms begin between the first and second decade of life(4), but it may vary according to types, CMT1 or CMT2, and genetic mutation associated to them(2). (arquivosdeorl.org.br)
  • Evaluation of muscle and fat using MRI, in addition to biochemical indices such as serum creatinine level, are promising biomarkers to track the disease progression. (kennedysdisease.org)
  • Although at least 14 unique GSDs are discussed in the literature, the 4 that cause clinically significant muscle weakness are Pompe disease ( GSD type II , acid maltase deficiency ), Cori disease ( GSD type III , debranching enzyme deficiency), McArdle disease ( GSD type V , myophosphorylase deficiency), and Tarui disease (GSD type VII, phosphofructokinase deficiency). (medscape.com)
  • to investigate nursing team knowledge and practices regarding care for children with Pompe disease in intensive care. (bvsalud.org)
  • Pompe en cuidados intensivos. (bvsalud.org)
  • Pompe Disease (PD) was discovered in 1932 by pathologist Joannes Cassianus Pompe, during the autopsy of a seven-month-old child who died from idiopathic myocardial hypertrophy. (bvsalud.org)
  • Studies in the areas of cellular and molecular neurobiology continue to be instrumental in defining how cells in the nervous system carry out complex motor, sensory, and cognitive processes. (osu.edu)
  • Discusses basic principles of the cellular, molecular and neurophysiological, and neuropharmacological organization of the nervous system. (osu.edu)
  • We will discuss how this development tolerates tremendous genetic and environmental variability to assemble a functioning nervous system. (osu.edu)
  • The absorption of tricresyl phosphates caused peripheral nervous system damage, leading to neuromuscular problems (Hewstone 1994a). (cdc.gov)
  • VPS13A disease is inherited in an autosomal recessive manner. (nih.gov)
  • The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases. (iospress.com)
  • This is a worldwide consortium of medical and scientific researchers whose goal is to discover effective treatments for muscle diseases. (ualberta.ca)
  • To better understand the molecular pathways and test potential treatments, we use various models including a well-established test for learning and memory in the fruit fly drosophila. (ualberta.ca)
  • We rely on your support to discover new treatments and cure childhood diseases. (chrichmond.org)
  • our work focuses on developing new genetic treatments for muscular dystrophy and muscle diseases. (royalholloway.ac.uk)