CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction

Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease

JoAnn Bergoffen, S. S. Scherer, S. Wang et al. · Science · 1993 · 1.1K citations

Medicine, Genetics, Molecular Genetics +16

Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease

H. Skre · Clinical Genetics · 1974 · 903 citations

Life Sciences, Genetics, Molecular Genetics +13

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations

Nazha Birouk, Éric Leguern, Thierry Maisonobe et al. · Neurology · 1998 · 170 citations

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Transient central nervous system white matter abnormality in X‐linked Charcot‐Marie‐Tooth disease

Henry L. Paulson, James Garbern, Timothy F. Hoban et al. · Annals of Neurology · 2002 · 161 citations

Medicine, Neurology, Neuroscience +17

CMT1X phenotypes represent loss of <i>GJB1</i> gene function

Michael E. Shy, Carly E. Siskind, E. R. Swan et al. · Neurology · 2007 · 157 citations

Life Sciences, Genetics, Neurology +14