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: G21D

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.

Chinese Medical Journal

Lu, Yuan-Yuan YY; Lyu, He H; Jin, Su-Qin SQ; Zuo, Yue-Huan YH; Liu, Jing J; Wang, Zhao-Xia ZX; Zhang, Wei W; Yuan, Yun Y

Publication Date: 2017-05-05

Variant appearance in text: GJB1: 62G>A; G21D

PubMed Link: 28469099

Variant Present in the following documents:

• CMJ-130-1049.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: G21D

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: G21D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

American Journal Of Human Genetics

Paznekas, William A WA; Boyadjiev, Simeon A SA; Shapiro, Robert E RE; Daniels, Otto O; Wollnik, Bernd B; Keegan, Catherine E CE; Innis, Jeffrey W JW; Dinulos, Mary Beth MB; Christian, Cathy C; Hannibal, Mark C MC; Jabs, Ethylin Wang EW

Publication Date: 2003-02

Variant appearance in text: GJB1: G21D

PubMed Link: 12457340

Variant Present in the following documents:

• Main text

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