Concepedia

X-linked dominant Charcot–Marie–Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations

Jan Senderek, Benita Hermanns, Carsten Bergmann, Babak Boroojerdi, Malek Bajbouj, Marcel Hungs, Vincent T. Ramaekers, Stefan Quasthoff, Dieter Karch, J. M. Schröder

Journal of the Neurological Sciences · 1999 · 86 citations · 52 references

DOI

Concepts

References

52

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

, , +14

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

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

, , +16

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

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

, , +17

Molecular Genetics of Inherited Variation in Human Color Vision

Jeremy Nathans, Thomas P. Piantanida, Roger L. Eddy et al. · Science · 1986 · 785 citations

, , +17

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

Peter Raeymaekers, Vincent Timmerman, Eva Nelis et al. · Neuromuscular Disorders · 1991 · 599 citations

, , +12