Publications
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Frías M, Badosa-Gallego MC, Jimenez-Mallebrera C, Porta JM and Roldan-Molina M.
The artificial intelligence challenge in rare disease diagnosis: A case study on collagen VI muscular dystrophy.
Computers in biology and medicine . 196(Pt A): 110610-110610.
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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 . 148(9): 3043-3056. Number of citations: 5
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Gunasekaran M, Littel HR, Wells NM, Turner J, Campos G, Venigalla S, Estrella EA, Ghosh PS, Daugherty AL, Stafki SA, Kunkel LM, Foley AR, Donkervoort S, Bönnemann CG, Toledo-Bravo de Laguna L, Nascimento-Osorio A, Natera-de Benito D, Draper I, Bruels CC, Pacak CA and Kang PB.
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development
FEBS JOURNAL . 292(18): 4854-4869. Number of citations: 2
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Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease
ANNALS OF NEUROLOGY . : .
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Pérez-Vidarte F, Estévez-Arias B, Matalonga L, Yubero-Siles D, Codina-Bergadà A, Ortez-Gonzalez CI, Medina J, De Sena-De Cabo L, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Tizzano E, Nascimento-Osorio A and Natera-de Benito D.
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum
Annals of Clinical and Translational Neurology . 12(8): 1528-1547.
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Severa, G, Bastu, S, Borin, GU, Decrouy, X, Codina-Bergadà A, Kefi, K, Periou, B, Nadaj-Pakleza, A, Lannes, B, Sacconi, S, Maurage, CA, Tard, C, Jou-Munoz C, Nascimento-Osorio A, Taglietti, V and Malfatti, E.
Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . : .
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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 . 68(1): 1-32.
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Segarra-Casas A, Domínguez-González C, Natera-de Benito D, Kapetanovic S, Hernández-Laín A, Estévez-Arias B, Llansó L, Ortez-Gonzalez CI, Jou-Munoz C, Martí-Carrera I, López-Marquez A, Rodríguez MJ, González-Mera L, Nedkova V, Fernández-Torrón R, Rodríguez-Santiago B, Jimenez-Mallebrera C, Juntas-Morales R, López-de Munain A, Surrallés J, Nascimento-Osorio A, Gallardo E, Olive-Valls M, Gallano P and González-Quereda L.
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology . 12(7): 1465-1479.
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Cattinari MG, Pascual-Pascual SI, de Lemus M, Medina J, Dumont M, Rebollo P and Vázquez-Costa JF.
Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers
ORPHANET JOURNAL OF RARE DISEASES . 20(1): 274-274.
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Madrigal I, Villar-Vera C, Arca G, Exposito-Escudero JM, Rodríguez-Revenga L, Piolatti-Luna A, Muelas N, Vilchez R, Ciutad Celdran M, Codina-Bergadà A, Estévez-Arias B, Carrera-García L, Ortez-Gonzalez CI, Rodriguez-Carunchio L, Sebastiani G, Azorin I, Nascimento-Osorio A, Jou-Munoz C, Vilchez JJ and Natera-de Benito D.
MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY . 51(3): . Number of citations: 2
