Publications:

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Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.

The Journal Of General Physiology

Rossi, Daniela D; Catallo, Maria Rosaria MR; Pierantozzi, Enrico E; Sorrentino, Vincenzo V

Publication Date: 2022-09-05

Variant appearance in text: RYR1: Y4864H

PubMed Link: 35980353

Variant Present in the following documents:

• JGP_202213115.pdf

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Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells.

Orphanet Journal Of Rare Diseases

Greer, Lacey K LK; Meilleur, Katherine G KG; Harvey, Brandon K BK; Wires, Emily S ES

Publication Date: 2022-06-13

Variant appearance in text: RYR1: Y4864H

PubMed Link: 35698232

Variant Present in the following documents:

• 13023_2022_Article_2368.pdf

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In vivo RyR1 reduction in muscle triggers a core-like myopathy.

Acta Neuropathologica Communications

Pelletier, Laurent L; Petiot, Anne A; Brocard, Julie J; Giannesini, Benoit B; Giovannini, Diane D; Sanchez, Colline C; Travard, Lauriane L; Chivet, Mathilde M; Beaufils, Mathilde M; Kutchukian, Candice C; Bendahan, David D; Metzger, Daniel D; Franzini Armstrong, Clara C; Romero, Norma B NB; Rendu, John J; Jacquemond, Vincent V; Fauré, Julien J; Marty, Isabelle I

Publication Date: 2020-11-11

Variant appearance in text: RYR1: Y4864H

PubMed Link: 33176865

Variant Present in the following documents:

• 40478_2020_Article_1068.pdf

View BVdb publication page

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Cored in the act: the use of models to understand core myopathies.

Disease Models & Mechanisms

Fusto, Aurora A; Moyle, Louise A LA; Gilbert, Penney M PM; Pegoraro, Elena E

Publication Date: 2019-12-19

Variant appearance in text: RYR1: Y4864H

PubMed Link: 31874912

Variant Present in the following documents:

• Main text

View BVdb publication page

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'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Acta Neuropathologica Communications

Garibaldi, Matteo M; Rendu, John J; Brocard, Julie J; Lacene, Emmanuelle E; Fauré, Julien J; Brochier, Guy G; Beuvin, Maud M; Labasse, Clemence C; Madelaine, Angeline A; Malfatti, Edoardo E; Bevilacqua, Jorge Alfredo JA; Lubieniecki, Fabiana F; Monges, Soledad S; Taratuto, Ana Lia AL; Laporte, Jocelyn J; Marty, Isabelle I; Antonini, Giovanni G; Romero, Norma Beatriz NB

Publication Date: 2019-01-05

Variant appearance in text: RYR1: Y4864H

PubMed Link: 30611313

Variant Present in the following documents:

• 40478_2018_Article_655.pdf

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Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.

Journal Of Clinical Neurology (Seoul, Korea)

Jeong, Ha Neul HN; Park, Hyung Jun HJ; Lee, Jung Hwan JH; Shin, Ha Young HY; Kim, Se Hoon SH; Kim, Seung Min SM; Choi, Young Chul YC

Publication Date: 2018-01

Variant appearance in text: RYR1: 14590T>C

PubMed Link: 29629541

Variant Present in the following documents:

• jcn-14-58.pdf

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Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.

Journal Of Neuromuscular Diseases

Cacheux, Marine M; Blum, Ariane A; Sébastien, Muriel M; Wozny, Anne Sophie AS; Brocard, Julie J; Mamchaoui, Kamel K; Mouly, Vincent V; Roux-Buisson, Nathalie N; Rendu, John J; Monnier, Nicole N; Krivosic, Renée R; Allen, Paul P; Lacour, Arnaud A; Lunardi, Joël J; Fauré, Julien J; Marty, Isabelle I

Publication Date: 2015-11-20

Variant appearance in text: RYR1: 14590T>C

PubMed Link: 27858745

Variant Present in the following documents:

• Main text
• jnd-2-4-jnd150073.pdf

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Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region.

Journal Of Clinical Neurology (Seoul, Korea)

Jung, Na-Yeon NY; Park, Yeong-Eun YE; Shin, Jin-Hong JH; Lee, Chang Hun CH; Jung, Dae-Soo DS; Kim, Dae-Seong DS

Publication Date: 2015-01

Variant appearance in text: RYR1: 14590T>C; Tyr4864His

PubMed Link: 25628744

Variant Present in the following documents:

• Main text
• jcn-11-97.pdf

View BVdb publication page

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