Publications:

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Neurology

Panosyan, Francis B FB; Laura, Matilde M; Rossor, Alexander M AM; Pisciotta, Chiara C; Piscosquito, Giuseppe G; Burns, Joshua J; Li, Jun J; Yum, Sabrina W SW; Lewis, Richard A RA; Day, John J; Horvath, Rita R; Herrmann, David N DN; Shy, Michael E ME; Pareyson, Davide D; Reilly, Mary M MM; Scherer, Steven S SS; ,

Publication Date: 2017-08-29

Variant appearance in text: GJB1: Leu165Pro

PubMed Link: 28768847

Variant Present in the following documents:

• Main text
• NEUROLOGY2017803221.pdf

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Hand weakness in Charcot-Marie-Tooth disease 1X.

Neuromuscular Disorders : Nmd

Arthur-Farraj, P J PJ; Murphy, S M SM; Laura, M M; Lunn, M P MP; Manji, H H; Blake, J J; Ramdharry, G G; Fox, Z Z; Reilly, M M MM

Publication Date: 2012-07

Variant appearance in text: GJB1: Leu165Pro

PubMed Link: 22464564

Variant Present in the following documents:

• Main text

View BVdb publication page