Concepedia

Kenneth H. Fischbeck

KH

158

Publications

22.3K

Citations

71

H-Index

1976

Active since

Affiliations

National Institute of Neurological Disorders and Stroke(Current)

National Institutes of Health

University of Pennsylvania

Johns Hopkins University

National Human Genome Research Institute

Kenneth H. Fischbeck is an author at National Institute of Neurological Disorders and Stroke specializing in medicine, genetics, and molecular genetics.

ORCID

Top concepts

Publications per year

1976–2023

158

Publications

158

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

Albert R. La Spada, Elizabeth Wilson, Dennis B. Lubahn et al. · Nature · 1991 · 2.8K citations

, , +6

Mutant dynactin in motor neuron disease

Imke Puls, Catherine Jonnakuty, Bernadette H. LaMonte et al. · Nature Genetics · 2003 · 944 citations · Full text

, , +9

Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular Dystrophy

Eric P. Hoffman, Kenneth H. Fischbeck, Robert H. Brown et al. · New England Journal of Medicine · 1988 · 924 citations

Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3

Henry L. Paulson, Matthew K. Perez, Yvon Trottier et al. · Neuron · 1997 · 839 citations · Full text

DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh et al. · The American Journal of Human Genetics · 2004 · 810 citations · Full text

, , +8

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