Publications
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Allen NM, O'Rahelly M, Eymard B, Chouchane M, Hahn A, Kearns G, Kim DS, Byun SY, Nguyen CE, Schara-Schmidt U, Kölbel H, Della Marina A, Schneider-Gold C, Roefke K, Thieme A, Van den Bergh P, Avalos G, Álvarez-Velasco R, Natera-de Benito D, Cheng MHM, Chan WK, Wan HS, Thomas MA, Borch L, Lauzon J, Kornblum C, Reimann J, Mueller A, Kuntzer T, Norwood F, Ramdas S, Jacobson LW, Jie X, Fernandez-Garcia MA, Wraige E, Lim M, Lin JP, Claeys KG, Aktas S, Oskoui M, Hacohen Y, Masud A, Leite MI, Palace J, De Vivo D, Vincent A and Jungbluth H.
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
BRAIN . 146(10): 4233-4246. Number of citations: 1
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García-Galant M, Blasco M, Laporta O, Berenguer-González A, Moral-Salicrú P, Ballester J, Caldú X, Miralbell J, Xenia Alonso, Medina J, Elsa Povedano Bulló, Leiva D, Boyd RN and Pueyo R.
A randomized controlled trial of a home-based computerized executive function intervention for children with cerebral palsy.
EUROPEAN JOURNAL OF PEDIATRICS . 182(10): 4351-4363.
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Suárez-Calvet X, Fernández-Simón E, Natera-de Benito D, Jou-Munoz C, Pinol-Jurado P, Villalobos E, Ortez-Gonzalez CI, Monceau A, Schiava M, Codina-Bergadà A, Verdu-Díaz J, Clark J, Laidler Z, Mehra P, Gokul-Nath R, Alonso-Perez J, Marini-Bettolo C, Tasca G, Straub V, Guglieri M, Nascimento-Osorio A and Diaz-Manera J.
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations.
CELL DEATH & DISEASE . 14(9): 596-596.
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Badosa-Gallego MC, Roldan-Molina M, Fernández-Irigoyen J, Santamaria E and Jimenez-Mallebrera C.
Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility.
SCIENTIFIC REPORTS . 13(1): 14622-14622.
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Exposito-Escudero JM, Natera-de Benito D, Carrera-García L, Armijo JA, Rios A, Nascimento-Osorio A and Ortez-Gonzalez CI.
Terapia génica: ¿dónde estamos?, ¿a dónde vamos?
MEDICINA-BUENOS AIRES . 83 Suppl 4: 13-17.
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Mohassel P, Yun P, Syeda S, Batra A, Bradley AJ, Donkervoort S, Monges S, Cohen JS, Leung DG, Munell F, Ortez-Gonzalez CI, Sánchez-Montáñez A, Karachunski P, Brandsema J, Medne L, Chaudhry V, Tasca G, Foley AR, Udd B, Arai AE, Walter GA and Bönnemann CG.
A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.
Annals of Clinical and Translational Neurology . 10(8): 1442-1455.
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Oliva-Mussara C, Arias A, Ruiz M, Pujol A, Garrabou G, Canto-Santos J, Urreizti R, Castilla-Vallmanya L, Rodriguez H, Jou-Munoz C, Casado-Rio M, Ormazabal-Herrero A and Artuch-Iriberri R.
Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number.
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES . 1226: 123787-123787.
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Segarra-Casas A, Domínguez-González C, Hernández-Laín A, Sanchez-Calvin MT, Camacho A, Rivas E, Campo-Barasoain A, Madruga M, Ortez-Gonzalez CI, Natera-de Benito D, Nascimento-Osorio A, Codina-Bergadà A, Rodriguez MJ, Gallano P and Gonzalez-Quereda L.
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
JOURNAL OF MEDICAL GENETICS . 60(6): 615-619. Number of citations: 2
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Justel M, Jou-Munoz C, Sariego A, Musokhranova U, Nascimento-Osorio A, Garcia-Cazorla A and Natera-de Benito D.
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
JOURNAL OF MEDICAL GENETICS . : .
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Planas-Serra L, Launay N, Goicoechea L, Heron B, Jou-Munoz C, Julià-Palacios NA, Ruiz M, Fourcade S, Casasnovas C, De La Torre C, Gelot A, Marsal M, Loza-Alvarez P, Garcia-Cazorla A, Fatemi A, Ferrer I, Portero-Otin M, Area-Gómez E and Pujol A.
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
JOURNAL OF CLINICAL INVESTIGATION . 133(10): . Number of citations: 1