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: I127F

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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GJB1 Mutation-A Disease Spectrum: Report of Case Series.

Frontiers In Neurology

Niu, Jingwen J; Dai, Yi Y; Liu, Mingsheng M; Li, Yi Y; Ding, Qingyun Q; Guan, Yuzhou Y; Cui, Liying L; Jin, Liri L

Publication Date: 2019

Variant appearance in text: GJB1: Ile127Phe

PubMed Link: 32010055

Variant Present in the following documents:

• Main text
• fneur-10-01406.pdf

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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: 379A>T; I127F

PubMed Link: 28469099

Variant Present in the following documents:

• CMJ-130-1049.pdf

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Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.

Chinese Medical Journal

Sun, Bo B; Chen, Zhao-Hui ZH; Ling, Li L; Li, Yi-Fan YF; Liu, Li-Zhi LZ; Yang, Fei F; Huang, Xu-Sheng XS

Publication Date: 2016-05-05

Variant appearance in text: GJB1: I127F

PubMed Link: 27098783

Variant Present in the following documents:

• CMJ-129-1011.pdf

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