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) | S | N | B | C | P |
Parents
Sign in to add mentorU. J. McMahan | research assistant | Harvard | |
Donald L. Schotland | post-doc | Penn |
Children
Sign in to add traineeTrangKimberly Thu Nguyen | research assistant | 2013-2015 | NINDS |
Al La Spada | grad student | 1993 | Penn |
Alexander R. McCampbell | grad student | 2001 | Penn |
Andrew P. Lieberman | grad student | 1998-2001 | NINDS |
Barrington G. Burnett | post-doc | NINDS | |
Henry Paulson | post-doc | Penn | |
J. Paul Taylor | post-doc | National Institute of Neurological Disorders and Stroke, NIH (FlyTree) |
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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 |
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 |
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 |
Winkelsas AM, Fischbeck KH. (2020) Nucleic acid therapeutics in neurodevelopmental disease. Current Opinion in Genetics & Development. 65: 112-116 |
Poletti A, Fischbeck KH. (2020) Combinatorial treatment for spinal muscular atrophy: An Editorial for 'Combined treatment with the histone deacetylase inhibitor LBH589 and a splice-switch antisense oligonucleotide enhances SMN2 splicing and SMN expression in Spinal Muscular Atrophy cells' on doi: 10.1111/jnc.14935. Journal of Neurochemistry |
Yalcouyé A, Diallo SH, Coulibaly T, et al. (2019) A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease. Molecular Genetics & Genomic Medicine. e782 |
Landouré G, Dembélé K, Cissé L, et al. (2019) Hereditary spastic paraplegia type 35 in a family from Mali. American Journal of Medical Genetics. Part A |
Guo L, Bertola DR, Takanohashi A, et al. (2019) Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. American Journal of Human Genetics |