Publicaciones
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Brito S, Thompson K, Campistol-Plana J, Colomer J, Hardy S, Langping H, Fernández-Marmiesse A, Palacios L, Jou-Munoz C, Jimenez-Mallebrera C, Armstrong-Moron J, Montero-Sanchez R, Artuch-Iriberri R, Tischner C, Wenz T, McFarland R and Taylor R.
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
Frontiers in Genetics . 6: 102-102. Nº de citas: 20
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Chigane D, Pandya D, Singh M, Brown B, Lin M, Xu L, Stacey AW, Bonnell AC, Hubbard GB 3rd, Grossniklaus H, Skalet AH, Bellsmith KN, Lally SE, Simão-Rafael M, Jou-Munoz C, Català-Mora J, Malaise D, Lumbroso-Le Rouic L, Matet A, Chantada G, Cassoux N, Shields CL and Berry JL.
"Safety Assessment of Aqueous Humor Liquid Biopsy in Retinoblastoma: A Multicenter Study of 1,203 Procedures".
Ophthalmology . : .
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Tizzano E, Lindner G, Chilcott E, Finkel RS and Yáñez-Muñoz RJ.
In utero therapy for spinal muscular atrophy: closer to clinical translation.
BRAIN . : .
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Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell PD, Millard J, Lee R, Cohen A, Ahmad R, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Hove HB, Mancini GMS, Schot R, Barakat TS, Richmond CM, Lauzon J, Ibrahim AIE, Nava C, Héron D, van Aalst MMA, Atemin S, Sleptsova M, Aleksandrova I, Todorova A, Watkins DL, Kozenko MA, Natera-de Benito D, Ortez-Gonzalez CI, Estévez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G and Korb E.
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.
BRAIN . : .
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Ji L, Yan J, Losurdo NA, Wang H, Liu L, Li K, Liu Z, Guo Z, Xu J, Bibo A, Ren D, Yang K, Luo Y, Yang F, Wang G, Xiang Z, Wang Y, Zhan H, Pan H, Hu J, Zhong J, Abou Jamra R, Zacher P, Musante L, Faletra F, Costa P, Zanus C, Couque N, Ruaud L, Cueto-González AM, San Nicolas Fernández H, Tizzano E, Martínez Gil N, Liu X, Liao W, Abi Farraj L, Huang AY, Zhang L, Murali A, Schmuel E, Han CS, King K, Gu W, Wang P, Li K, Link N, He G, Bian S and Mao X.
Mutations in spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.
JOURNAL OF CLINICAL INVESTIGATION . : .
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García-Fernández A, Couce-Sánchez M, Andreo-Jover J, Ayad-Ahmed W, Bobes Bascarán MT, Bot MA, Canal Rivero M, Cebria AI, Crespo-Facorro B, Diaz-Marsá M, Fernández-Rodrigues V, Gómez-Vallejo S, González-Pinto A, Grande I, Iglesias Gutiérrez N, Jiménez-Treviño L, López-Pena P, Palao DJ, Palao-Tarrero Á, Pedrola-Pons A, Ruiz-Veguilla M, Suarez-Soto E, de la Torre-Luque A, Zorrilla I, Pérez V and Sáiz PA.
Efficacy of a brief psychological intervention for adolescents with recent suicide attempt. A randomised clinical trial.
EUROPEAN PSYCHIATRY . : 1-32.
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Godoy-Molina E, Serrano NL, Jiménez-González A, Villaronga M, Marqués Pérez-Bryan RM, Varela-Fernández R, Lotz-Esquivel S, Hevia Tuñón A, Trivedi PP, Horn N, Standing JF, Mangas-Sanjuan V, Capdevila M, Mateos A, Broun D, Lutsenko S, Medina-Rivera IF, Artuch-Iriberri R, Jou-Munoz C, Roldan-Molina M, Pedro Arango Sancho, Saez-Villafañe M, Ortiz-de-Urbina JJ, Pieras-López A, Duero M, Rosa Farré Riba, Pijuan-Marquilles J, Hoenicka J, Sacchettini JC, Petris MJ, Gohil VM and Palau F.
Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.
JOURNAL OF CLINICAL INVESTIGATION . : .
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Puig-Ram C, Segovia S, Garcia-Uzquiano R, Ñungo Garzón NC, Aragon-Gawinska K, García Romero M, Expósito-Escudero JM, Carrera-García L, López-Lobato M, Paradas C, González Mera L, Álvarez Molinero M, Gómez Andrés D, Toro E, Fernández Ramos JA, Grimalt MA, Toledo Bravo de Laguna L, González Barrios D, Tizzano E, Cattinari MG, Medina J, Calvo Medina R, Munell F, Sotoca J, Martínez-Salcedo E, Moreno Escribano A, Povedano Panadés M, Fernández-García MA, Pitarch-Castellano I, Vázquez-Costa JF, Natera-de Benito D and Nascimento-Osorio A.
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project.
Journal of neuromuscular diseases . : .