Kenneth H. Fischbeck

Affiliations: 
National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States 
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"Kenneth Fischbeck"
Mean distance: 16.3 (cluster 11)
 
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Publications

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Lim WF, Forouhan M, Roberts TC, et al. (2021) Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity. Science Advances. 7
Finkel RS, Fischbeck KH. (2021) Maybe too much of a good thing in gene therapy. Nature Neuroscience. 24: 901-902
Grunseich C, Sarkar N, Lu J, et al. (2021) Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases. Journal of Neurology, Neurosurgery, and Psychiatry
Cissé CAK, Cissé L, Ba HO, et al. (2021) Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family. Clinical Case Reports. 9: e04065
McCormack NM, Abera MB, Arnold ES, et al. (2021) A high-throughput genome-wide RNAi screen identifies modifiers of survival motor neuron protein. Cell Reports. 35: 109125
Winkelsas AM, Grunseich C, Harmison GG, et al. (2021) Targeting the 5' untranslated region of as a therapeutic strategy for spinal muscular atrophy. Molecular Therapy. Nucleic Acids. 23: 731-742
Compo J, Joseph J, Shieh V, et al. (2020) Exercise Intervention Leads to Functional Improvement in a Patient with Spinal and Bulbar Muscular Atrophy. Journal of Rehabilitation Medicine. Clinical Communications. 3: 1000041
Hashizume A, Fischbeck KH, Pennuto M, et al. (2020) Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA). Journal of Neurology, Neurosurgery, and Psychiatry. 91: 1085-1091
Grunseich C, Fischbeck KH. (2020) Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy's disease) and avenues for treatment. Current Opinion in Neurology. 33: 629-634
Pourshafie N, Masati E, Bunker E, et al. (2020) Linking epigenetic dysregulation, mitochondrial impairment, and metabolic dysfunction in SBMA motor neurons. Jci Insight. 5
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