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Page 1
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ. Ortolano S, et al. Neuromuscul Disord. 2011 Apr;21(4):254-62. doi: 10.1016/j.nmd.2010.12.011. Epub 2011 Feb 1. Neuromuscul Disord. 2011. PMID: 21288719
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.
García-Murias M, Quintáns B, Arias M, Seixas AI, Cacheiro P, Tarrío R, Pardo J, Millán MJ, Arias-Rivas S, Blanco-Arias P, Dapena D, Moreira R, Rodríguez-Trelles F, Sequeiros J, Carracedo A, Silveira I, Sobrido MJ. García-Murias M, et al. Brain. 2012 May;135(Pt 5):1423-35. doi: 10.1093/brain/aws069. Epub 2012 Apr 3. Brain. 2012. PMID: 22492559 Free PMC article.
Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation.
García-García J, Fernández-García MA, Blanco-Arias P, Díaz-Maroto-Cicuendez MI, Salmerón-Martínez F, Hidalgo-Olivares VM, Olivé M. García-García J, et al. Among authors: blanco arias p. Neuromuscul Disord. 2018 Nov;28(11):952-955. doi: 10.1016/j.nmd.2018.08.003. Epub 2018 Aug 13. Neuromuscul Disord. 2018. PMID: 30241883
Axonal neuropathy, long limbs and bumpy tongue: think of MEN2B.
Ramos-Leví AM, Díaz-Pérez A, Sobrido MJ, Piñeiro-Hermida S, Blanco-Arias P, Cabezas-Agrícola JM, Pascual-Pascual SI, Araújo-Vilar D. Ramos-Leví AM, et al. Muscle Nerve. 2012 Dec;46(6):961-4. doi: 10.1002/mus.23466. Muscle Nerve. 2012. PMID: 23225389
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain.
Arias M, Mir P, Fernández-Matarrubia M, Arpa J, García-Ramos R, Blanco-Arias P, Quintans B, Sobrido MJ. Arias M, et al. Among authors: blanco arias p. Neurologia (Engl Ed). 2022 May;37(4):257-262. doi: 10.1016/j.nrl.2019.01.004. Epub 2019 May 15. Neurologia (Engl Ed). 2022. PMID: 31103315 Free article. English, Spanish.
19 results