Publicacions
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Martínez Lorente A, Rosello Sastre E, Jesús Fernández Aceñero M, Zaragoza Macián L, Azúa Romeo J, Alfaro-Cervelló C, Navarro S, García Fernández E, Temprana-Salvador J, Iglesias Coma M, Olivares Vegas F, Fernández Figueras M, Aso Manso S, Aguirre Anda JJ, Salas Valién JS, Álvarez Alegret R, Hernández Losa J, Jou-Munoz C, Dinarès Fernández C, Urbano Carrillo M, Béjar Valera J, Chappuis de Oliveira C, Centeno Haro M, Leiva Cepas F and Tresserra Casas F.
Recomendaciones de la SEAP-IAP para la recolección, el almacenamiento y el uso de materiales biológicos de origen humano y los datos relacionados, destinados a la investigación. Consideración genérica de biobanco y revisión ético-legal (Parte II).
Revista Espanola de Patologia . 57(4): 250-257.
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Tresserra Casas F, Rosello Sastre E, Fernández Aceñero MJ, Zaragoza Macián L, Azúa Romeo J, Alfaro-Cervelló C, Navarro Fos S, García Fernández E, Temprana-Salvador J, Iglesias Coma M, Olivares Vegas F, Fernández Figueras M, Aso Manso S, Aguirre Anda JJ, Salas Valién JS, Álvarez Alegret R, Hernández Losa J, Jou-Munoz C, Dinarès Fernández C, Urbano Carrillo M, Béjar Valera J, Chappuis de Oliveira C, Centeno Haro M, Leiva-Cepas F and Martínez Lorente A.
Tiempos y condiciones de almacenamiento de las muestras en anatomía patológica. Recomendaciones de la Sociedad Española de Anatomía Patológica parte 1: muestras destinadas al diagnóstico.
Revista Espanola de Patologia . 57(4): 235-249.
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Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
EUROPEAN JOURNAL OF HUMAN GENETICS . : .
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Llansó L, Segarra-Casas A, Domínguez-González C, Malfatti E, Kapetanovic S, Rodríguez-Santiago B, de la Calle O, Blanco R, Dobrescu A, Nascimento-Osorio A, Paipa A, Hernandez-Lain A, Jou-Munoz C, Mariscal A, González-Mera L, Arteche A, Lleixà C, Caballero-Ávila M, Carbayo Á, Vesperinas A, Querol L, Gallardo E and Olivé M.
Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naive Early-Onset Anti-HMGCR Necrotizing Myopathy
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION . 11(5): .
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Pons-Tomas, Gemma, Hernandez-Garcia, Maria, Mele-Casas, Maria, Fernández de Sevilla-Estrach M, Launes-Montana C, Girona M, Rios-Barnés M, Bassat Q, Ajanovic, Sara, Cubells M, Claverol J, Penela-Sanchez, Daniel, Jou-Munoz C, Manuel Monsonis Cabedo, Esteva-Afonso C, Fassanella, Assumpta, Cuadras-Palleja D, Munoz-Almagro C, Jordán-García I, Fortuny-Guasch C, García-García JJ and Fumadó V.
Clinical Characterization, Transmissibility, and Seroconversion of SARS-CoV-2 Infection in Children (before the Start of Vaccination) in the Barcelona Metropolitan Region (Spain)
Journal of Pediatric Infectious Diseases . 19(05): 251-259.
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Carmona G, Moreno-Simonet L, Cosio PL, Astrella A, Fernández D, Cadefau JA, Rodas G, Jou-Munoz C, Milisenda JC, Cano MD, Arànega R, Marotta M, Grau JM, Padullés JM and Mendiguchia J.
Hamstrings on focus: Are 72 hours sufficient for recovery after a football (soccer) match? A multidisciplinary approach based on hamstring injury risk factors and histology
JOURNAL OF SPORTS SCIENCES . 42(12): 1130-1146.
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Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez-Gonzalez CI, Martorell-Sampol L, Estévez-Arias B, Matalonga L, Laurie S, Jou-Munoz C, Lau J, Thompson R, Shen X, Engel AG, Nascimento-Osorio A, Lochmüller H and Selcen D.
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
PEDIATRIC NEUROLOGY . 157: 5-13.
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Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julià-Palacios NA, Jou-Munoz C, Yubero-Siles D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch-Iriberri R and Santos-Ocaña C.
New variants expand the neurological phenotype of COQ7 deficiency
JOURNAL OF INHERITED METABOLIC DISEASE . : .
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Candela-Cantó SA, Hinojosa J, Muchart-Lopez J, Jou-Munoz C, Palau, L, Carlos Valera Dávila, Flores, C, Palacio-Navarro A, Climent MA, Pascual, A, González, A, Culebras, D, Alamar AM, Becerra, V, Aparicio J and Rumiá, J.
Temporo-Parieto-Occipital Disconnection by Robot-Assisted Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for Refractory Epilepsy in a Pediatric Patient: Proof-of-Principle Case Report and Surgical Nuances
WORLD NEUROSURGERY . 187: 124-132.
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Mora J, Climent A, Roldan-Molina M, Flores MC, Varo A, Pérez-Jaume S, Jou-Munoz C, Celma MS, Lazaro JJ, Cheung I, Castañeda-Heredia A, Gorostegui M, Rodriguez E, Chamorro S, Muñoz JP and Cheung NK.
Desensitizing the autonomic nervous system to mitigate anti-GD2 monoclonal antibody side effects
Frontiers in oncology . 14: 1380917-1380917.