Publicaciones
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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 citas: 16
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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 citas: 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 citas: 42
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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 citas: 5
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Nuria Díez Escuté, Arbelo E, Martínez-Barrios E, Patricia Cerralbo Martín, César-Díaz S, Cruzalegui JC, Chipa F, Fiol JV, Zschaeck-Luzardo I, Hernández-Cera C, Campuzano O and Sarquella-Brugada G.
Sex differences in long QT syndrome
frontiers in cardiovascular medicine . 10: 1164028-1164028. Nº de citas: 5
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Codina-Bergadà A, Roldan-Molina M, Natera-de Benito D, Ortez-Gonzalez CI, Planas R, Matalonga L, Cuadras-Palleja D, Carrera-García L, Exposito-Escudero JM, Márquez-Pereira JM, Jimenez-Mallebrera C, M Porta J, Nascimento-Osorio A and Jou-Munoz C.
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(7): .
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Nascimento-Osorio A, Bruels CC, Donkervoort S, Foley AR, Codina-Bergadà A, Milisenda JC, Estrella EA, Li C, Pijuan-Marquilles J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Martorell-Sampol L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez-Gonzalez CI, Palau F, Ghosh PS, Darras BT, Jou-Munoz C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB and Natera-de Benito D.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
ACTA NEUROPATHOLOGICA . 145(4): 479-496. Nº de citas: 2
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César-Díaz S, Coll, M, Fiol JV, Fernandez-Falgueras, A, Cruzalegui JC, Iglesias, A, Moll I, Perez-Serra, A, Martínez-Barrios E, Ferrer-Costa, C, del Olmo, B, Puigmulè, M, Alcalde, M, Lopez, L, Pico, F, Berrueco R, Brugada-Terradellas J, Zschaeck-Luzardo I, Natera-de Benito D, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Brugada, R, Sarquella-Brugada G and Campuzano, O.
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation
Frontiers in Genetics . 14: 1135438-1135438. Nº de citas: 4
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César-Díaz S, Campuzano O, Cruzalegui JC, Fiol JV, Moll I, Martínez-Barrios E, Zschaeck-Luzardo I, Natera-de Benito D, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Berrueco R, Bautista-Rodriguez C, Dabaj I, Gómez García-de-la-Banda M, Quijano-Roy S, Brugada-Terradellas J, Nascimento-Osorio A and Sarquella-Brugada G.
Characterization of cardiac involvement in children with LMNA-related muscular dystrophy
Frontiers in Cell and Developmental Biology . 11: 1142937-1142937. Nº de citas: 4
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Natera-de Benito D, Olival J, Garcia-Cabau C, Jou-Munoz C, Roldan-Molina M, Codina-Bergadà A, Exposito-Escudero JM, Batlle C, Carrera-García L, Ortez-Gonzalez CI, Salvatella X, Palau F, Nascimento-Osorio A and Hoenicka J.
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants
Annals of Clinical and Translational Neurology . 10(3): 408-425. Nº de citas: 4