Kenneth H. Fischbeck

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

Medicine, Genetics, Molecular Genetics +14

Mutant dynactin in motor neuron disease

Imke Puls, Catherine Jonnakuty, Bernadette H. LaMonte et al. · Nature Genetics · 2003 · 950 citations · Full text

Life Sciences, Cell Biology, Neuroscience +13

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 · 927 citations

Medicine, Biochemistry, Pathology +12

Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3

Henry L. Paulson, Matthew K. Perez, Yvon Trottier et al. · Neuron · 1997 · 842 citations · Full text

Life Sciences, Neurology, Neuroscience +17

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 · 812 citations · Full text

Life Sciences, Neurology, Neuroscience +12