Publications:

Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies.

Elife

Eckhardt, Jan J; Ruiz, Alexis A; Koenig, Stéphane S; Frieden, Maud M; Meier, Hervé H; Schmidt, Alexander A; Treves, Susan S; Zorzato, Francesco F

Publication Date: 2023-03-02

Variant appearance in text: RYR1: Q1970fsX16

PubMed Link: 36862731

Variant Present in the following documents:

• Main text
• elife-83618.pdf

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Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice.

The Journal Of Biological Chemistry

Elbaz, Moran M; Ruiz, Alexis A; Nicolay, Sven S; Tupini, Chiara C; Bachmann, Christoph C; Eckhardt, Jan J; Benucci, Sofia S; Pelczar, Pawel P; Treves, Susan S; Zorzato, Francesco F

Publication Date: 2020-07-24

Variant appearance in text: RYR1: Q1970fsX16

PubMed Link: 32499372

Variant Present in the following documents:

• Main text

View BVdb publication page