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Cardiac deficiency of single cytochrome oxidase assembly factor scox induces p53-dependent apoptosis in a Drosophila cardiomyopathy model.

By Cervera, Margarita | Arredondo Juan J,. Human molecular genetics, 2015 . 24(13):3608-22. , Formato Vancouver: Martínez Morentín L, Martínez L, Piloto S, Yang H, Schon EA, Garesse R et al. Cardiac deficiency of single cytochrome oxidase assembly factor scox induces p53-dependent apoptosis in a Drosophila cardiomyopathy model. Hum Mol Genet. 2015 Jul 1;24(13):3608-22.

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Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.

By García Redondo, Alberto. Human molecular genetics, 2014 . 23(3):749-54. , Formato Vancouver: Dols-Icardo O, García-Redondo A, Rojas-García R, Sánchez-Valle R, Noguera A, Gómez-Tortosa E et al. Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia. Hum Mol Genet. 2014 Feb 1;23(3):749-54.

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Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy.

By Cuezva, J.M.. Human Molecular Genetics, 2013 . 22(16):3296-305. , Formato Vancouver: López-Erauskin J, Galino J, Ruiz M, Cuezva JM, Fabregat I, Cacabelos D et al. Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy. Hum Mol Genet. 2013 Aug 15;22(16):3296-305.

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A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.

By Carreira Delgado, Patricia Esmeralda. Human Molecular Genetics, 2013 . 22(19):4021-9. , Formato Vancouver: Martín JE, Assassi S, Díaz-Gallo LM, Broen JC, Simeón CP, Castellvi I, et al; Spanish Scleroderma Group; SLEGEN consortium; U.S. Scleroderma GWAS group; BIOLUPUS. A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. Hum Mol Genet. 2013 Oct 1;22(19):4021-9.

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Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice.

By Enríquez de Salamanca Lorente, Rafael. Human Molecular Genetics, 2013 . 22(14):2929-40. , Formato Vancouver: Unzu C, Sampedro A, Mauleón I, González-Aparicio M, Enríquez de Salamanca R, Prieto J et al. Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice. Hum Mol Genet. 2013 Jul 15;22(14):2929-40.

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Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.

By Bernal González, Carmen. Human Molecular Genetics, 2013 . 22(11):2169-76. , Formato Vancouver: Comino-Méndez I, de Cubas AA, Bernal C, Álvarez-Escolá C, Sánchez-Malo C, Ramírez-Tortosa CL et al. Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis. Hum Mol Genet. 2013 Jun 1;22(11):2169-76.

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Risk variants for psoriasis vulgaris in a large case-control collection and association with clinical subphenotypes.

By Vanaclocha Sebastián, Francisco. Human Molecular Genetics, 2012 . 21(20):4549-57. , Formato Vancouver: Julià A, Tortosa R, Hernanz JM, Cañete JD, Fonseca E, Ferrándiz C, et al. Risk variants for psoriasis vulgaris in a large case-control collection and association with clinical subphenotypes. Hum Mol Genet. 2012 Oct 15;21(20):4549-57.

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Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.

By Carreira Delgado, Patricia Esmeralda. Human Molecular Genetics, 2012 . 21(12):2825-35. , Formato Vancouver: Martín JE, Broen JC, Carmona FD, Teruel M, Simeón CP, Vonk MC, et al. Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up. Hum Mol Genet. 2012 Jun 15;21(12):2825-35.

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