Charcot–Marie–Tooth disease

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Stephan Züchner, Irina Mersiyanova, M. Muglia et al. · Nature Genetics · 2004 · 1.6K citations · Full text

Life Sciences, Genetics, Neurology +11

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

James R. Lupski, Roberto Montes‐de‐Oca‐Luna, Susan Slaugenhaupt et al. · Cell · 1991 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +14

THE CLINICAL FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPES I AND II

A E Harding, P. K. Thomas · Brain · 1980 · 829 citations

Medicine, Neurology, Neuroscience +17

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

Phillip F. Chance, M. Kathryn Alderson, Kathleen A. Leppig et al. · Cell · 1993 · 806 citations

Life Sciences, Genetics, Molecular Genetics +12

Estimation of the Mutation Frequenciesin Charcot-Marie-Tooth Disease Type 1and Hereditary Neuropathy withLiability to Pressure Palsies:A European Collaborative Study

Eva Nelis, Christine Van Broeckhoven · European Journal of Human Genetics · 1996 · 423 citations

Life Sciences, Genetics, Neurology +12