Publicacions
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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. Nº de cites: 3
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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. Nº de cites: 2
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Mercuri, E, Nascimento-Osorio A, Muntoni, F, Buccella, F, Desguerre, I, Kirschner, J, Tulinius, M, de Resende, MBD, Morgenroth, LP, Gordish-Dressman, H, Johnson, S, Kristensen, A, Werner, C, Trifillis, P, Henricson, EK and McDonald, CM.
Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis
JOURNAL OF NEUROLOGY . 270(8): 3896-3913. Nº de cites: 10
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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. Nº de cites: 1
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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. Nº de cites: 2
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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. Nº de cites: 9
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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): . Nº de cites: 11
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Hernández-García M, Bassat Q, Fumadó V, Rodas G, Pi R, Miranda-García M, Girona M, Català M, Alonso S, Alvarez-Lacalle E, López D, Melé-Casas M, Pons-Tomas G, Fernández de Sevilla-Estrach M, Bonet E, Fortuny-Guasch C, García-Miquel A, Jou-Munoz C, Adroher C, Claverol J, Cubells M, Codina-Bergadà A, Cuadras-Palleja D, Gratacós E, Brotons-de los Reyes P, Munoz-Almagro C, Prats C, García-García JJ and Jordán-García I.
SARS-CoV-2 transmission in teenagers and young adults in Futbol Club Barcelona's Multidisciplinary Sports Training Academy
EUROPEAN JOURNAL OF PEDIATRICS . 182(5): 2421-2432. Nº de cites: 1
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Oskoui M, Day JW, Deconinck N, Mazzone ES, Nascimento-Osorio A, Saito K, Vuillerot C, Baranello G, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Papp G, Gorni K, Kletzl H, Martin C, McIver T, Scalco RS, Staunton H, Yeung WY, Fontoura P and Mercuri E.
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)
JOURNAL OF NEUROLOGY . 270(5): 2531-2546. Nº de cites: 33
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Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou-Munoz C, Ugarteburu O, Gort L, Yubero-Siles D, Garcia-Cazorla A, O'Callaghan-Gordo M, Campistol-Plana J, Muchart-Lopez J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch-Iriberri R, Ribes A, Urreizti R and Tort F.
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency
BRAIN PATHOLOGY . 33(3): . Nº de cites: 5