Kenneth H. Fischbeck Neurogenetics Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health Biography Publications Institution JoVE Articles Kenneth H. Fischbeck has not added a biography. If you are Kenneth H. Fischbeck and would like to personalize this page please email our Author Liaison for assistance. Publications Spinal Muscular Atrophy Handbook of Clinical Neurology. 2018 | Pubmed ID: 29478602 Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters Molecular Cell. Feb, 2018 | Pubmed ID: 29395064 Patient-identified Impact of Symptoms in Spinal and Bulbar Muscular Atrophy Muscle & Nerve. Jan, 2018 | Pubmed ID: 28877556 Respiratory Magnetic Resonance Imaging Biomarkers in Duchenne Muscular Dystrophy Annals of Clinical and Translational Neurology. 09, 2017 | Pubmed ID: 28904987 Skeletal Muscle Water T As a Biomarker of Disease Status and Exercise Effects in Patients with Duchenne Muscular Dystrophy Neuromuscular Disorders : NMD. Aug, 2017 | Pubmed ID: 28601553 Decreased Motor Neuron Support by SMA Astrocytes Due to Diminished MCP1 Secretion The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. May, 2017 | Pubmed ID: 28450545 A Novel Mutation in in a Malian Family with Spastic Paraplegia and Sensory Loss Annals of Clinical and Translational Neurology. 04, 2017 | Pubmed ID: 28382308 Upper Arm and Cardiac Magnetic Resonance Imaging in Duchenne Muscular Dystrophy Annals of Clinical and Translational Neurology. Dec, 2016 | Pubmed ID: 28097207 Adenylyl Cyclase Activating Polypeptide Reduces Phosphorylation and Toxicity of the Polyglutamine-expanded Androgen Receptor in Spinobulbar Muscular Atrophy Science Translational Medicine. 12, 2016 | Pubmed ID: 28003546 ML372 Blocks SMN Ubiquitination and Improves Spinal Muscular Atrophy Pathology in Mice JCI Insight. Nov, 2016 | Pubmed ID: 27882347 Quantifying Disease Activity in Fatty-infiltrated Skeletal Muscle by IDEAL-CPMG in Duchenne Muscular Dystrophy Neuromuscular Disorders : NMD. 10, 2016 | Pubmed ID: 27593185 Genetics and Genomic Medicine in Mali: Challenges and Future Perspectives Molecular Genetics & Genomic Medicine. Mar, 2016 | Pubmed ID: 27066513 CNS Uptake of Bortezomib is Enhanced by P-glycoprotein Inhibition: Implications for Spinal Muscular Atrophy Neurobiology of Disease. Apr, 2016 | Pubmed ID: 26792401 MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy Molecular Therapy : the Journal of the American Society of Gene Therapy. 05, 2016 | Pubmed ID: 26755334 Spinal and Bulbar Muscular Atrophy Overview Journal of Molecular Neuroscience : MN. Mar, 2016 | Pubmed ID: 26547319 The Polyglutamine-expanded Androgen Receptor Has Increased DNA Binding and Reduced Transcriptional Activity Biochemistry and Biophysics Reports. Sep, 2015 | Pubmed ID: 29124176 A Randomized Controlled Trial of Exercise in Spinal and Bulbar Muscular Atrophy Annals of Clinical and Translational Neurology. Jul, 2015 | Pubmed ID: 26273686 A Functional Scale for Spinal and Bulbar Muscular Atrophy: Cross-sectional and Longitudinal Study Neuromuscular Disorders : NMD. Jul, 2015 | Pubmed ID: 25913211 Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia JAMA Neurology. May, 2015 | Pubmed ID: 25751282 Results of a Two-year Pilot Study of Clinical Outcome Measures in Collagen VI- and Laminin Alpha2-related Congenital Muscular Dystrophies Neuromuscular Disorders : NMD. Jan, 2015 | Pubmed ID: 25307854 Epilepsy Genetics in Africa: Challenges and Future Perspectives North African and Middle East Epilepsy Journal. Sep-Oct, 2014 | Pubmed ID: 26413584 Proceedings of the Fourth International Conference on Central Hypoventilation Orphanet Journal of Rare Diseases. Dec, 2014 | Pubmed ID: 25928806 Early Onset and Novel Features in a Spinal and Bulbar Muscular Atrophy Patient with a 68 CAG Repeat Neuromuscular Disorders : NMD. Nov, 2014 | Pubmed ID: 25047668 Assessing Function and Endurance in Adults with Spinal and Bulbar Muscular Atrophy: Validity of the Adult Myopathy Assessment Tool Rehabilitation Research and Practice. 2014 | Pubmed ID: 24876969 CMT-associated Mutations in Glycyl- and Tyrosyl-tRNA Synthetases Exhibit Similar Pattern of Toxicity and Share Common Genetic Modifiers in Drosophila Neurobiology of Disease. Aug, 2014 | Pubmed ID: 24807208 Nicotinamide in Friedreich's Ataxia: Useful or Not? Lancet (London, England). Aug, 2014 | Pubmed ID: 24794818 Survival Motor Neuron Protein Deficiency Impairs Myotube Formation by Altering Myogenic Gene Expression and Focal Adhesion Dynamics Human Molecular Genetics. Sep, 2014 | Pubmed ID: 24760765 Muscle Matters in Kennedy's Disease Neuron. Apr, 2014 | Pubmed ID: 24742452 Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy The Journal of Biological Chemistry. May, 2014 | Pubmed ID: 24668811 Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 Human Mutation. Oct, 2013 | Pubmed ID: 23857908 Mechanisms, Models and Biomarkers in Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. May, 2013 | Pubmed ID: 23678877 The E3 Ubiquitin Ligase Mind Bomb 1 Ubiquitinates and Promotes the Degradation of Survival of Motor Neuron Protein Molecular Biology of the Cell. Jun, 2013 | Pubmed ID: 23615451 A Role for Androgen Reduction Treatment in Kennedy Disease? Muscle & Nerve. Jun, 2013 | Pubmed ID: 23408598 Common Data Elements for Clinical Research in Friedreich's Ataxia Movement Disorders : Official Journal of the Movement Disorder Society. Feb, 2013 | Pubmed ID: 23239403 Novel Mutation in the ATM Gene in a Malian Family with Ataxia Telangiectasia Journal of Neurology. Jan, 2013 | Pubmed ID: 23142947 A Loss-of-function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic in Vivo Human Mutation. Jan, 2013 | Pubmed ID: 22930593 Cowchock Syndrome is Associated with a Mutation in Apoptosis-inducing Factor American Journal of Human Genetics. Dec, 2012 | Pubmed ID: 23217327 Insulinlike Growth Factor (IGF)-1 Administration Ameliorates Disease Manifestations in a Mouse Model of Spinal and Bulbar Muscular Atrophy Molecular Medicine (Cambridge, Mass.). Dec, 2012 | Pubmed ID: 22952056 Histone Deacetylase Inhibition Suppresses Myogenin-dependent Atrogene Activation in Spinal Muscular Atrophy Mice Human Molecular Genetics. Oct, 2012 | Pubmed ID: 22798624 A Candidate Gene for Autoimmune Myasthenia Gravis Neurology. Jul, 2012 | Pubmed ID: 22744667 Developing Treatment for Spinal and Bulbar Muscular Atrophy Progress in Neurobiology. Dec, 2012 | Pubmed ID: 22668795 Neurogenic and Myogenic Contributions to Hereditary Motor Neuron Disease Neuro-degenerative Diseases. 2012 | Pubmed ID: 22327341 Charcot-Marie-Tooth-linked Mutant GARS is Toxic to Peripheral Neurons Independent of Wild-type GARS Levels PLoS Genetics. Dec, 2011 | Pubmed ID: 22144914 Genetic Testing and Counseling for Hereditary Neurological Diseases in Mali Journal of Community Genetics. Mar, 2011 | Pubmed ID: 22109722 Clinical and Genetic Analysis of Spinocerebellar Ataxia in Mali European Journal of Neurology. Oct, 2011 | Pubmed ID: 21418439 Efficacy and Safety of Dutasteride in Patients with Spinal and Bulbar Muscular Atrophy: a Randomised Placebo-controlled Trial The Lancet. Neurology. Feb, 2011 | Pubmed ID: 21216197 GARS Axonopathy: Not Every Neuron's Cup of TRNA Trends in Neurosciences. Feb, 2010 | Pubmed ID: 20152552 Anti-androgen Treatment for Spinal and Bulbar Muscular Atrophy Annals of Neurology. Feb, 2009 | Pubmed ID: 19259961 Poliglutaminas Expandidas Andrógenos Fragmentos De Truncamiento Del Receptor De Activar Una Cascada Apoptótica Bax-dependiente Mediada Por DP5/Hrk The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Feb, 2009 | Pubmed ID: 19228953 Regulation of SMN Protein Stability Molecular and Cellular Biology. Mar, 2009 | Pubmed ID: 19103745 A Duplication at Chromosome 11q12.2-11q12.3 is Associated with Spinocerebellar Ataxia Type 20 Human Molecular Genetics. Dec, 2008 | Pubmed ID: 18801880 Neurological Effects of High-dose Idebenone in Patients with Friedreich's Ataxia: a Randomised, Placebo-controlled Trial The Lancet. Neurology. Oct, 2007 | Pubmed ID: 17826341 Seguridad, La Tolerabilidad Y La Farmacocinética De Dosis Alta Idebenona En Pacientes Con Ataxia De Friedreich Archives of Neurology. Jun, 2007 | Pubmed ID: 17562928 Akt Bloquea El Ligando Y Protege Contra La Toxicidad De Receptor De Andrógeno Poliglutaminas Ampliado Human Molecular Genetics. Jul, 2007 | Pubmed ID: 17470458 Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for TRNA-charging Enzymes in Peripheral Axons The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Oct, 2006 | Pubmed ID: 17035524 A Motor Neuron Disease-associated Mutation in P150Glued Perturbs Dynactin Function and Induces Protein Aggregation The Journal of Cell Biology. Feb, 2006 | Pubmed ID: 16505168 Therapeutics Development for Triplet Repeat Expansion Diseases Nature Reviews. Genetics. Oct, 2005 | Pubmed ID: 16205715 Distal Spinal and Bulbar Muscular Atrophy Caused by Dynactin Mutation Annals of Neurology. May, 2005 | Pubmed ID: 15852399 Spinal Muscular Atrophy in the Neonate Journal of Obstetric, Gynecologic, and Neonatal Nursing : JOGNN. Jan-Feb, 2004 | Pubmed ID: 14971549 Una Pantalla De La Droga Que Protegen Contra La Citotoxicidad De Poliglutaminas Ampliado Receptor De Andrógenos Human Molecular Genetics. Feb, 2004 | Pubmed ID: 14709594 La Acetilación De Histonas Aberrante, La Transcripción Alterada, Y La Degeneración De Retina En Un Modelo De Drosophila De La Enfermedad Poliglutamina Son Rescatados Por CREB-proteína De Unión Genes & Development. Jun, 2003 | Pubmed ID: 12815067 Glycyl TRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V American Journal of Human Genetics. May, 2003 | Pubmed ID: 12690580 Aggresomes Proteger Las Células Aumento De La Degradación De Tóxicos Poliglutamina Que Contienen Proteínas Human Molecular Genetics. Apr, 2003 | Pubmed ID: 12651870 Mutant Dynactin in Motor Neuron Disease Nature Genetics. Apr, 2003 | Pubmed ID: 12627231 Altered Transcriptional Regulation in Cells Expressing the Expanded Polyglutamine Androgen Receptor Human Molecular Genetics. Aug, 2002 | Pubmed ID: 12165558 La Acetilación Alterado En La Enfermedad De Poliglutamina: Una Oportunidad Para La Intervención Terapéutica? Trends in Molecular Medicine. May, 2002 | Pubmed ID: 12067622 Proteínas Tóxicas En Las Enfermedades Neurodegenerativas Science (New York, N.Y.). Jun, 2002 | Pubmed ID: 12065827 Histone Deacetylase Inhibitors Reduce Polyglutamine Toxicity Proceedings of the National Academy of Sciences of the United States of America. Dec, 2001 | Pubmed ID: 11742087 A Unique Mutation in Connexin32 Associated with Severe, Early Onset CMTX in a Heterozygous Female Annals of the New York Academy of Sciences. Oct, 1999 | Pubmed ID: 29086962 X-linked Charcot-Marie-Tooth Disease and Connexin32 Annals of the New York Academy of Sciences. Oct, 1999 | Pubmed ID: 29086942 Entrega sistémica de microARN mediante Virus Adeno-asociado recombinante serotipo 9 para tratar enfermedades neuromusculares en roedores Naemeh Pourshafie1, Philip R. Lee2, Ke-lian Chen1, George G. Harmison1, Laura C. Bott1,3, Kenneth H. Fischbeck1, Carlo Rinaldi1,4 1Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 2Section on Nervous System Development and Plasticity, The Eunice Kennedy Shriver National Institute of Child and Human Development, National Institutes of Health, 3Department of Molecular Biosciences, Rice Institute for Biomedical Research, Northwestern University, 4Department of Physiology, Anatomy and Genetics, University of Oxford JoVE 55724 Genetics
Entrega sistémica de microARN mediante Virus Adeno-asociado recombinante serotipo 9 para tratar enfermedades neuromusculares en roedores Naemeh Pourshafie1, Philip R. Lee2, Ke-lian Chen1, George G. Harmison1, Laura C. Bott1,3, Kenneth H. Fischbeck1, Carlo Rinaldi1,4 1Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 2Section on Nervous System Development and Plasticity, The Eunice Kennedy Shriver National Institute of Child and Human Development, National Institutes of Health, 3Department of Molecular Biosciences, Rice Institute for Biomedical Research, Northwestern University, 4Department of Physiology, Anatomy and Genetics, University of Oxford JoVE 55724 Genetics