Publications:

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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: P87L

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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Systematic review of CMTX1 patients with episodic neurological dysfunction.

Annals Of Clinical And Translational Neurology

Tian, Dandan D; Zhao, Yating Y; Zhu, Ruixia R; Li, Qu Q; Liu, Xu X

Publication Date: 2021-01

Variant appearance in text: CMTX1: Pro87Leu

PubMed Link: 33314704

Variant Present in the following documents:

• Main text
• ACN3-8-213.pdf

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The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits.

Frontiers In Neurology

Wen, Qingxian Q; Cao, Longqiao L; Yang, Cun C; Xie, Yanchen Y

Publication Date: 2018

Variant appearance in text: CMTX: Pro87Leu

PubMed Link: 30013503

Variant Present in the following documents:

• Main text
• fneur-09-00461.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: P87L

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: P87L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Analysis of four connexin26 mutant gap junctions and hemichannels reveals variations in hexamer stability.

Biophysical Journal

Ambrosi, Cinzia C; Boassa, Daniela D; Pranskevich, Jennifer J; Smock, Amy A; Oshima, Atsunori A; Xu, Ji J; Nicholson, Bruce J BJ; Sosinsky, Gina E GE

Publication Date: 2010-05-19

Variant appearance in text: CMTX: P87L

PubMed Link: 20441744

Variant Present in the following documents:

• Main text

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