Free Access
| Issue |
Med Sci (Paris)
Volume 40, Novembre 2024
Les Cahiers de Myologie
|
|
|---|---|---|
| Page(s) | 30 - 33 | |
| Section | Prix SFM | |
| DOI | https://doi.org/10.1051/medsci/2024135 | |
| Published online | 18 November 2024 | |
- Beaufils M, Travard L, Rendu J, et al. Therapies for RYR1-Related Myopathies: Where We Stand and the Perspectives. Curr Pharm Des 2022 ; 28 (1) : 1525. [CrossRef] [PubMed] [Google Scholar]
- « ClinVar ». Consulté le 29 avril 2024. En ligne]. https://www.ncbi.nlm.nih.gov/clinvar/ [Google Scholar]
- Lawal TA, Todd JJ, Meilleur KG. Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches. Neurotherapeutics 2018 ; 15 (4) : 885899. [CrossRef] [PubMed] [Google Scholar]
- Richards S, Aziz N, Bale S, et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 ; 17 (5) : 405–24. [CrossRef] [PubMed] [Google Scholar]
- Kushnir A, Todd JJ, Witherspoon JW, et al. Intracellular calcium leak as a therapeutic target for RYR1-related myopathies. Acta Neuropathol 2020 ; 139 (6) : 1089–1104. [CrossRef] [PubMed] [Google Scholar]
- Garibaldi M, Rendu J, Brocard J, et al. ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. Acta Neuropathol Commun 2019 ; 7 (1) : 3. [CrossRef] [PubMed] [Google Scholar]
- Abath Neto O, de Araújo Martins Moreno C, Malfatti E, et al. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. Neuromuscul Disord 2017 ; 27 (11) : 975985. [CrossRef] [PubMed] [Google Scholar]
- Meissner G. The structural basis of ryanodine receptor ion channel function. J Gen Physiol 2017 ; 149 (12) : 10651089. [CrossRef] [PubMed] [Google Scholar]
- Lanner JT, Georgiou DK, Joshi AD, et al. Ryanodine Receptors: Structure, Expression, Molecular Details, and Function in Calcium Release. Cold Spring Harb Perspect Biol 2010 ; 2 (11) : a003996. [CrossRef] [PubMed] [Google Scholar]
- Rendu J, Brocard J, Denarier E, et al. Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy. Hum Gene Ther 2013 ; 24 (7) : 702713. [CrossRef] [PubMed] [Google Scholar]
- Noda Y, Miyoshi H, Benucci S, et al. Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals. Neuromuscul Disord 2023 ; 33 (12) : 951963. [CrossRef] [PubMed] [Google Scholar]
Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.
Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.
Initial download of the metrics may take a while.