Pediatría
Servizo
Miguel Angel
Martín Casanueva
Publicacións nas que colabora con Miguel Angel Martín Casanueva (9)
2024
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Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
Pediatric Neurology, Vol. 155, pp. 8-17
2019
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Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment
Journal of Clinical Medicine, Vol. 8, Núm. 11
2016
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Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene
Brain and Development, Vol. 38, Núm. 1, pp. 167-172
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Erratum: Corrigendum to “Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene” (Brain and Development (2016) 38(1) (167–172) (S0387760415001023) (10.1016/j.braindev.2015.05.008))
Brain and Development
2014
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Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion
European Journal of Paediatric Neurology, Vol. 18, Núm. 6, pp. 796-800
2011
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Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant
Journal of Child Neurology, Vol. 26, Núm. 6, pp. 734-737
2010
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Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency
Human Mutation, Vol. 31, Núm. 8, pp. 930-941
2001
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Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C>T mutation
Journal of Inherited Metabolic Disease, Vol. 24, Núm. 6, pp. 685-687
1998
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Clinical heterogeneity associated with mitochondrial DNA depletion in muscle
Neuromuscular Disorders, Vol. 8, Núm. 8, pp. 568-573