Publications:

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: RYR1: 3223C>T; Arg1075Trp; rs573649990

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

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Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives.

Molecules (Basel, Switzerland)

Bauerová-Hlinková, Vladena V; Hajdúchová, Dominika D; Bauer, Jacob A JA

Publication Date: 2020-09-04

Variant appearance in text: RYR1: R1075W

PubMed Link: 32899693

Variant Present in the following documents:

• Main text
• molecules-25-04040.pdf

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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: 3223C>T; R1075W; rs573649990

PubMed Link: 30611313

Variant Present in the following documents:

• Main text
• 40478_2018_Article_655.pdf
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 6
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 7
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 2
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 3
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 8
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 1

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An integrated diagnosis strategy for congenital myopathies.

Plos One

Böhm, Johann J; Vasli, Nasim N; Malfatti, Edoardo E; Le Gras, Stéphanie S; Feger, Claire C; Jost, Bernard B; Monnier, Nicole N; Brocard, Julie J; Karasoy, Hatice H; Gérard, Marion M; Walter, Maggie C MC; Reilich, Peter P; Biancalana, Valérie V; Kretz, Christine C; Messaddeq, Nadia N; Marty, Isabelle I; Lunardi, Joël J; Romero, Norma B NB; Laporte, Jocelyn J

Publication Date: 2013

Variant appearance in text: RYR1: Arg1075Trp

PubMed Link: 23826317

Variant Present in the following documents:

• Main text
• pone.0067527.pdf

View BVdb publication page