Publications:

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neuroscience Letters

Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A

Publication Date: 2021-01-23

Variant appearance in text: GJB1: W24C

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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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: Trp24Cys

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: W24C

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: W24C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Gap junctions couple astrocytes and oligodendrocytes.

Journal Of Molecular Neuroscience : Mn

Orthmann-Murphy, Jennifer L JL; Abrams, Charles K CK; Scherer, Steven S SS

Publication Date: 2008-05

Variant appearance in text: GJB1: W24C

PubMed Link: 18236012

Variant Present in the following documents:

• Main text

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