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Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
Dyment DA, Sell E, Vanstone MR, Smith AC, Garandeau D, Garcia V, Carpentier S, Le Trionnaire E, Sabourdy F, Beaulieu CL, Schwartzentruber JA, McMillan HJ; FORGE Canada Consortium; Majewski J, Bulman DE, Levade T, Boycott KM. Dyment DA, et al. Among authors: garcia v. Clin Genet. 2014 Dec;86(6):558-63. doi: 10.1111/cge.12307. Epub 2013 Nov 21. Clin Genet. 2014. PMID: 24164096
Danon disease: further clinical and molecular heterogeneity.
Sabourdy F, Michelakakis H, Anastasakis A, Garcia V, Mavridou I, Nieto M, Pons MC, Skiadas C, Moraitou M, Manta P, Elleder M, Levade T. Sabourdy F, et al. Among authors: garcia v. Muscle Nerve. 2009 Jun;39(6):837-44. doi: 10.1002/mus.21252. Muscle Nerve. 2009. PMID: 19373884
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
Zhou J, Tawk M, Tiziano FD, Veillet J, Bayes M, Nolent F, Garcia V, Servidei S, Bertini E, Castro-Giner F, Renda Y, Carpentier S, Andrieu-Abadie N, Gut I, Levade T, Topaloglu H, Melki J. Zhou J, et al. Among authors: garcia v. Am J Hum Genet. 2012 Jul 13;91(1):5-14. doi: 10.1016/j.ajhg.2012.05.001. Epub 2012 Jun 14. Am J Hum Genet. 2012. PMID: 22703880 Free PMC article.
Systemic ceramide accumulation leads to severe and varied pathological consequences.
Alayoubi AM, Wang JC, Au BC, Carpentier S, Garcia V, Dworski S, El-Ghamrasni S, Kirouac KN, Exertier MJ, Xiong ZJ, Privé GG, Simonaro CM, Casas J, Fabrias G, Schuchman EH, Turner PV, Hakem R, Levade T, Medin JA. Alayoubi AM, et al. Among authors: garcia v. EMBO Mol Med. 2013 Jun;5(6):827-42. doi: 10.1002/emmm.201202301. Epub 2013 May 16. EMBO Mol Med. 2013. PMID: 23681708 Free PMC article.
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.
Bonafé L, Kariminejad A, Li J, Royer-Bertrand B, Garcia V, Mahdavi S, Bozorgmehr B, Lachman RL, Mittaz-Crettol L, Campos-Xavier B, Nampoothiri S, Unger S, Rivolta C, Levade T, Superti-Furga A. Bonafé L, et al. Among authors: garcia v. Arthritis Rheumatol. 2016 Sep;68(9):2323-7. doi: 10.1002/art.39659. Epub 2016 Jul 29. Arthritis Rheumatol. 2016. PMID: 26945816
A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1.
Ame van der Beek N, Nelson I, Froissart R, Levade T, Garcia V, Lacene E, Boland A, Masson C, Romero NB, Stojkovic T, Bonne G, Béhin A. Ame van der Beek N, et al. Among authors: garcia v. Eur J Hum Genet. 2019 Mar;27(3):337-339. doi: 10.1038/s41431-018-0250-z. Epub 2018 Oct 5. Eur J Hum Genet. 2019. PMID: 30291339 Free PMC article. No abstract available.
1,701 results