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: R32K

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

View BVdb publication page

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Neurogenetics

Schon, Katherine K; Spasic-Boskovic, Olivera O; Brugger, Kim K; Graves, Tracey D TD; Abbs, Stephen S; Park, Soo-Mi SM; Ambegaonkar, Gautam G; Armstrong, Ruth R

Publication Date: 2017-01

Variant appearance in text: GJB1: Arg32Lys

PubMed Link: 28063088

Variant Present in the following documents:

• Main text
• 10048_2016_Article_504.pdf

View BVdb publication page