Publications:

Defective ryanodine receptor N-terminus inter-subunit interaction is a common mechanism in neuromuscular and cardiac disorders.

Frontiers In Physiology

Zhang, Yadan Y; Rabesahala de Meritens, Camille C; Beckmann, Astrid A; Lai, F Anthony FA; Zissimopoulos, Spyros S

Publication Date: 2022

Variant appearance in text: RYR1: R156K

PubMed Link: 36311249

Variant Present in the following documents:

• Main text
• fphys-13-1032132.pdf

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Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Acta Neuropathologica Communications

Fusto, Aurora A; Cassandrini, Denise D; Fiorillo, Chiara C; Codemo, Valentina V; Astrea, Guja G; D'Amico, Adele A; Maggi, Lorenzo L; Magri, Francesca F; Pane, Marika M; Tasca, Giorgio G; Sabbatini, Daniele D; Bello, Luca L; Battini, Roberta R; Bernasconi, Pia P; Fattori, Fabiana F; Bertini, Enrico Silvio ES; Comi, Giacomo G; Messina, Sonia S; Mongini, Tiziana T; Moroni, Isabella I; Panicucci, Chiara C; Berardinelli, Angela A; Donati, Alice A; Nigro, Vincenzo V; Pini, Antonella A; Giannotta, Melania M; Dosi, Claudia C; Ricci, Enzo E; Mercuri, Eugenio E; Minervini, Giovanni G; Tosatto, Silvio S; Santorelli, Filippo F; Bruno, Claudio C; Pegoraro, Elena E

Publication Date: 2022-04-15

Variant appearance in text: RYR1: 467G>A; Arg156Lys

PubMed Link: 35428369

Variant Present in the following documents:

• Main text
• 40478_2022_Article_1357.pdf

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Crystal structure of type I ryanodine receptor amino-terminal beta-trefoil domain reveals a disease-associated mutation "hot spot" loop.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Amador, Fernando J FJ; Liu, Shuang S; Ishiyama, Noboru N; Plevin, Michael J MJ; Wilson, Aaron A; MacLennan, David H DH; Ikura, Mitsuhiko M

Publication Date: 2009-07-07

Variant appearance in text: RYR1: R156K

PubMed Link: 19541610

Variant Present in the following documents:

• Main text

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