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Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

Paola Mandich, Marina Grandis, Alessandro Geroldi, Massimo Acquaviva, Alessandra Varese, Rossella Gulli, Paola Ciotti, Emilia Bellone

Journal of Human Genetics · 2008 · 15 citations · 23 references

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23

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

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

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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

, , +12

Connexin32 is a myelin-related protein in the PNS and CNS

SS Scherer, SM Deschenes, YT Xu et al. · Journal of Neuroscience · 1995 · 410 citations · Full text

, , +14

Connexin32-null mice develop demyelinating peripheral neuropathy

Steven S. Scherer, Yitian Xu, Eric Nelles et al. · Glia · 1998 · 302 citations · Full text

, , +16

Functional Gap Junctions in the Schwann Cell Myelin Sheath

Rita J. Balice‐Gordon, Linda Jo Bone, Steven S. Scherer · The Journal of Cell Biology · 1998 · 285 citations · Full text

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