Researcher Profile

Kenneth H. Fischbeck

🏛 Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke Bethesda Maryland USA

Publications

621

Citations

Co-Authors

Active Years

Publications

Journal Article Journal of the Peripheral Nervous System Apr 05, 2022

GJB1 variants in Charcot‐Marie‐Tooth disease X‐linked type 1 in Mali

Abdoulaye Yalcouyé · Seybou H. Diallo · Lassana Cissé · Mamadou Karembé +9 more

10.1111/jns.12486 5 citations

Journal Article Human Mutation Oct 11, 2012

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Aimée Vester · Gisselle Velez-Ruiz · Heather M. McLaughlin · NISC Comparative Sequencing Program +10 more

10.1002/humu.22210 109 citations

Journal Article Journal of Obstetric, Gynecologic & Neonatal Nursin... Jan 01, 2004

Spinal Muscular Atrophy in the Neonate

Jennifer A. Markowitz · Mindy B. Tinkle · Kenneth H. Fischbeck

10.1177/0884217503261125 27 citations

Open Access Journal Article The American Journal of Human Genetics May 01, 2003

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

Anthony Antonellis · Rachel E. Ellsworth · Nyamkhishig Sambuughin · Imke Puls +13 more

10.1086/375039 480 citations

Publication Timeline

2022

2012

2004

2003

Frequent Co-Authors

Anthony Antonellis

2×

Jeffery M. Vance

2×

NISC Comparative Sequencing Program

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