Publications:

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: 14510delA; Gln4837ArgfsX3

PubMed Link: 35428369

Variant Present in the following documents:

• Main text
• 40478_2022_Article_1357.pdf

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Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.

Human Molecular Genetics

Suman, Matteo M; Sharpe, Jenny A JA; Bentham, Robert B RB; Kotiadis, Vassilios N VN; Menegollo, Michela M; Pignataro, Viviana V; Molgó, Jordi J; Muntoni, Francesco F; Duchen, Michael R MR; Pegoraro, Elena E; Szabadkai, Gyorgy G

Publication Date: 2018-07-01

Variant appearance in text: RYR1: 14510delA

PubMed Link: 29701772

Variant Present in the following documents:

• Main text
• ddy149.pdf

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Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet Journal Of Rare Diseases

Amburgey, Kimberly K; Bailey, Angela A; Hwang, Jean H JH; Tarnopolsky, Mark A MA; Bonnemann, Carsten G CG; Medne, Livija L; Mathews, Katherine D KD; Collins, James J; Daube, Jasper R JR; Wellman, Gregory P GP; Callaghan, Brian B; Clarke, Nigel F NF; Dowling, James J JJ

Publication Date: 2013-08-06

Variant appearance in text: RYR1: 14510delA

PubMed Link: 23919265

Variant Present in the following documents:

• 1750-1172-8-117-S1.xlsx, sheet 1

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A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.

Journal Of Medical Genetics

Rossi, Daniela D; De Smet, Patrick P; Lyfenko, Alla A; Galli, Lucia L; Lorenzini, Stefania S; Franci, Daniela D; Petrioli, Francesco F; Orrico, Alfredo A; Angelini, Corrado C; Tegazzin, Vincenzo V; Dirksen, Robert R; Sorrentino, Vincenzo V

Publication Date: 2007-02

Variant appearance in text: RYR1: 14510delA

PubMed Link: 17293538

Variant Present in the following documents:

• Main text

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