Search for 'an:"1007" and au:Martinez Azorin, Francisco'

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.

By Rodríguez García, María Elena | Martín Hernández, Elena | Martínez de Aragón Calvo, Ana | García Silva, María Teresa | Quijada Fraile, Pilar | Arenas Barbero, Joaquín | Martín, Miguel Ángel | Martinez Azorin, Francisco. Neurogenetics, 2016 . 17(1):51-6. , Formato Vancouver: Rodríguez García ME, Martín Hernández E, de Aragón AM, García Silva MT, Quijada Fraile P, Arenas J et al. First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking. Neurogenetics. 2016 Jan;17(1):51-6.

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Corrigendum to "Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene" [Brain Dev. 38 (2016) 167-172].

By Arenas Barbero, Joaquín | Martín, Miguel Ángel | Martinez Azorin, Francisco. Bain & development, 2016 . 38(8):783. , Formato Vancouver: Castro Gago M, Dacruz Álvarez D, Pintos Martínez E, Beiras Iglesias A, Arenas J, Martín MÁ et al. Corrigendum to "Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene" [Brain Dev. 38 (2016) 167-172]. Brain Dev. 2016 Sep;38(8):783.

Place Hold on Corrigendum to "Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene" [Brain Dev. 38 (2016) 167-172].

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

By Arenas Barbero, Joaquín | Martín, Miguel Ángel | Martinez Azorin, Francisco. Brain & development, 2016 . 38(1):167-72. , Formato Vancouver: Castro Gago M, Dacruz Álvarez D, Pintos Martínez E, Beiras Iglesias A, Arenas J, Martín MÁ et al. Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene. Brain Dev. 2016 Jan;38(1):167-72.

Place Hold on Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

By Arenas Barbero, Joaquín | Martín, Miguel Ángel | Martinez Azorin, Francisco. Brain & development, 2016 . 38(1):167-72. , Formato Vancouver: Castro Gago M, Dacruz Alvárez D, Pintos Martínez E, Beiras Iglesias A, Arenas J, Martín MÁ et al. Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene. Brain Dev. 2016 Jan;38(1):167-72.

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Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.

By Arenas Barbero, Joaquín | Martín, Miguel A. | Martinez Azorin, Francisco | Delmiro Magdalena, Aitor. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2014 . 18(6):796-800. , Formato Vancouver: Castro-Gago M, Dacruz-Alvárez D, Pintos-Martínez E, Beiras-Iglesias A, Delmiro A, Arenas J et al. Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion. Eur J Paediatr Neurol. 2014 Nov;18(6):796-800.

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A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.

By Arenas Barbero, Joaquín | Delmiro Magdalena, Aitor | García Silva, María Teresa | Martín Casanueva, Miguel Ángel | Martinez Azorin, Francisco | Martín Hernández, Elena | Muley Alonso, Rafael | Quijada Fraile, Pilar | Rivera Gorrín, Henry. BMC nephrology, 2013 . 14:195. , Formato Vancouver: Rivera H, Martín-Hernández E, Delmiro A, García-Silva MT, Quijada-Fraile P, Muley R et al. A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. BMC Nephrol. 2013 Sep 13;14:195.

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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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