Andrés
Beiras Iglesias
Hospital Universitario 12 de Octubre
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (5)
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
1999
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Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction
Journal of Child Neurology, Vol. 14, Núm. 2, pp. 131-135
1996
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Leber's congenital amaurosis associated with mitochondrial dysfunction
Journal of Child Neurology, Vol. 11, Núm. 2, pp. 108-111