Free Access
| Issue |
Med Sci (Paris)
Volume 41, Novembre 2025
Les Cahiers de Myologie
|
|
|---|---|---|
| Page(s) | 72 - 77 | |
| Section | Myologie dans le monde | |
| DOI | https://doi.org/10.1051/medsci/2025172 | |
| Published online | 28 November 2025 | |
- Ben Hamida M, Attia N, Chabouni H, et al. Une myopathie proximale et sévère de l’enfance récessive autosomique, fréquente en Tunisie. Rev Neurol 1983 ; 139 (4) : 289–297. [Google Scholar]
- Yalcouyé A, Esoh K, Landouré G, et al. Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review. J Peripher Nerv Syst 2022 ; 27 (2) : 100–112. [Google Scholar]
- Maroufou Alao J. ROAMY : l’expérience de quatre pays d’un jeune réseau d’Afrique de l’Ouest. Med Sci 2013 ; 8 : 38–29. [Google Scholar]
- Kamga KK, Marlyse PF, Nguefack S, et al. Advancing genetic services in African healthcare: Challenges, opportunities, and strategic insights from a scoping review. HGG Adv 2025 ; 6 (3) : 100439. [Google Scholar]
- Stamm DS, Aylsworth AS, Stajich JM, et al. Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. Am J Med Genet A 2008 ; 146A (14) : 1832–1841. [Google Scholar]
- Horstick EJ, Linsley JW, Dowling JJ, et al. Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nat Commun 2013 ; 4 : 1952. [Google Scholar]
- Schoonen M, Fassad M, Patel K, et al. Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort. Eur J Hum Genet, 2025 ; 33 (4) : 421–431. [Google Scholar]
- Essop F, Dillon B, Mhlongo F, Bhengu L, et al. STAC3 disorder: a common cause of congenital hypotonia in Southern African patients. Eur J Hum Genet. 2025 ; 33 (1) : 14–23. [Google Scholar]
- Elenga N, Verloes A, Mrsic Y, et al. Incidence of infantile Pompe disease in the Maroon population of French Guiana. BMJ Paediatr Open 2018 ; 2 (1) : e000182. [Google Scholar]
- Quansah E, Karikari TK. Motor neuron diseases in sub-Saharan Africa: The Need for More Population-Based Studies. Biomed Res Int 2015 ; 2015 : 298409. [Google Scholar]
- Sangaré M, Hendrickson B, Sango HA, et al. Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa. Ann Neurol, 2014 ; 75 (4) : 525–532. [Google Scholar]
- Chen X, Sanchis-Juan A, French CE, et al. Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med 2020 ; 22 (2) : 945–953. [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.