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McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.

Human mutation, 2015 . 36(7):669-78. , Formato Vancouver: Nogales Gadea G, Brull A, Santalla A, Andreu AL, Arenas J, Martín MA et al. McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene. Hum Mutat. 2015 Jul;36(7):669-78.

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Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.

By García Redondo, Alberto. Human mutation, 2013 . 34(1):79-82. , Formato Vancouver: García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL et al. Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Hum Mutat. 2013 Jan;34(1):79-82.

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Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome.

By Martín Casanueva, Miguel Ángel | Arenas Barbero, Joaquín | Delmiro Magdalena, Aitor | García-Consuegra Galiana, Inés | Martinez Azorin, Francisco | Martín Hernández, Elena | Moreno Izquierdo, Ana | Quijada Fraile, Pilar | Rivera Gorrín, Henry | Simón de las Heras, Rogelio | García Silva, María Teresa. Human Mutation, 2013 , Formato Vancouver: Delmiro A, Rivera H, García-Silva MT, García-Consuegra I, Martín-Hernández E, Quijada-Fraile P et al. Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. Hum Mutat. 2013 Dec;34(12):1623-7.

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