Free Access
| Issue |
Med Sci (Paris)
Volume 40, Novembre 2024
Les Cahiers de Myologie
|
|
|---|---|---|
| Page(s) | 6 - 8 | |
| Section | Mise Au Point | |
| DOI | https://doi.org/10.1051/medsci/2024128 | |
| Published online | 18 November 2024 | |
- Axeen EJT, Olson HE. Neonatal epilepsy genetics. Semin Fetal Neonatal Med 2018 ; 23 : 197. [CrossRef] [PubMed] [Google Scholar]
- Krahn M, Biancalana V, Cerino M, et al. A national French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing. Eur J Hum Genet 2019 ; 27 : 349. [CrossRef] [PubMed] [Google Scholar]
- Berg JS, Foreman AKM, O’Daniel JM, et al. A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing. Genet Med 2016 ; 18 : 467. [CrossRef] [PubMed] [Google Scholar]
- Vecten M, Pion E, Bartoli M, et al. Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care. Int J Mol Sci 2022 ; 23 : 8506. [CrossRef] [PubMed] [Google Scholar]
- Thompson R, Bonne G, Missier P, et al. Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a Treatabolome. Emerg Top Life Sci 2019 ; 3 : 19. [CrossRef] [PubMed] [Google Scholar]
- Bonne G. The Treatabolome, an emerging concept. J Neuromuscul Dis 2021 ; 8 (3) : 337–339. [CrossRef] [PubMed] [Google Scholar]
- Atalaia A, Thompson R, Corvo A, et al. A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome. Orphanet J Rare Dis 2020 ; 15 (1) : 206. [CrossRef] [PubMed] [Google Scholar]
- Atalaia A, Ben Yaou R, Wahbi K, et al. Laminopathies’ treatments systematic review: a contribution towards a ‘Treatabolome’. J Neuromuscul Dis 2021 ; 8 (3) : 419–439. [CrossRef] [PubMed] [Google Scholar]
- Desaphy JF, Altamura C, Vicart S, Fontaine B. Targeted therapies for skeletal muscle ion channelopathies: systematic review and steps towards precision medicine. J Neuromuscul Dis 2021 ; 8 (3) : 357–381. [CrossRef] [PubMed] [Google Scholar]
- Manta A, Spendiff S, Lochmüller H, Thompson R. Targeted therapies for metabolic myopathies related to glycogen storage and lipid metabolism: a systematic review and steps towards a ‘Treatabolome’. J Neuromuscul Dis 2021 ; 8 (3) : 401–417. [CrossRef] [PubMed] [Google Scholar]
- Tiet MY, Lin Z, Gao F, et al. Targeted therapies for Leigh syndrome: systematic review and steps towards a ‘Treatabolome’. J Neuromuscul Dis 2021 ; 8 (6) : 885–897. [CrossRef] [PubMed] [Google Scholar]
- Jennings MJ, Lochmüller A, Atalaia A, Horvath R. Targeted therapies for hereditary peripheral neuropathies: systematic review and steps towards a ‘Treatabolome’. J Neuromuscul Dis 2021 ; 8 (3) : 383–400. [CrossRef] [PubMed] [Google Scholar]
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