George Karpati

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

Elizabeth E. Zubrzycka‐Gaarn, Dennis E. Bulman, George Karpati et al. · Nature · 1988 · 659 citations

Medicine, Genetics, Molecular Genetics +12

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Iris Eisenberg, Nili Avidan, Tamara Potikha et al. · Nature Genetics · 2001 · 528 citations

Life Sciences, Genetics, Molecular Biology +9

The syndrome of systemic carnitine deficiency

George Karpati, Stirling Carpenter, Andrew G. Engel et al. · Neurology · 1975 · 400 citations

Life Sciences, Biochemistry, Pediatrics +16

Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

Laura E. Warner, Max J. Hilz, Stanley H. Appel et al. · Neuron · 1996 · 363 citations · Full text

Medicine, Genetics, Neurology +17

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).

Louise Boulet, George Karpati, Eric A. Shoubridge · PubMed · 1992 · 334 citations

Medicine, Genetics, Molecular Genetics +15