Publications:

Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report.

Bmc Neurology

Liang, Youlong Y; Liu, Jingli J; Cheng, Daobin D; Wu, Yu Y; Mo, Liuhong L; Huang, Wen W

Publication Date: 2019-12-16

Variant appearance in text: GJB1: Arg142Glu

PubMed Link: 31842800

Variant Present in the following documents:

• Main text
• 12883_2019_Article_1563.pdf

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What's the Function of Connexin 32 in the Peripheral Nervous System?

Frontiers In Molecular Neuroscience

Bortolozzi, Mario M

Publication Date: 2018

Variant appearance in text: GJB1: R142E

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

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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: Arg142Glu

PubMed Link: 28768847

Variant Present in the following documents:

• Main text
• NEUROLOGY2017803221.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: GJB1: R142E

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GJB1: R142E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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