Kenneth H. Fischbeck

Facioscapulohumeral muscular dystrophy defect identified

K. Fischbeck, J. Garbern, Kenneth H. Fischbeck, 1992, Nature genetics.

Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.

S. Pulst, K. Fischbeck, S. Perlman, 1998, Human molecular genetics.

Microsatellite mutation (CAG24-->18) in the androgen receptor gene in human prostate cancer.

K. Fischbeck, P. Walsh, W. Isaacs, 1994, Biochemical and biophysical research communications.

The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A

D. Housman, F. Baas, V. Stanton, 1992, Nature Genetics.

A new mitochondrial DNA mutation (A3288G) in the tRNALeu(UUR) gene associated with familial myopathy

S. Dimauro, K. Fischbeck, G. Hadjigeorgiou, 1999, Journal of the Neurological Sciences.

Erythrocyte membrane studies

D. Schotland, Kenneth H. Fischbeck, Eduardo Bonilla, 1981, Neurology.

Mechanisms Models and Biomarkers in Amyotrophic Lateral Mechanisms Models and Biomarkers in Amyotrophic Lateral Sclerosis Sclerosis

S. Rutkove, N. Maragakis, Kenneth H. Fischbeck, 2022 .

The role of the gap junction protein connexin32 in the pathogenesis of X-linked Charcot-Marie-Tooth disease.

K. Fischbeck, R. Balice-Gordon, S. Scherer, 1999, Novartis Foundation symposium.