Publicacions
-
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): .
-
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.
-
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.
-
de Lemus, Mencia, Cattinari, Maria G., Pascual, Samuel I., Medina J, Garcia, Mar, Magallon, Ana, Dumont, Maria and Rebollo, Pablo.
Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study
Journal of Patient-Reported Outcomes . 8(1): .
-
Crawford TO, Day JW, De Vivo DC, Krueger JM, Mercuri E, Nascimento-Osorio A, Pasternak A, Mazzone ES, Duong T, Song G, Marantz JL, Baver S, Yu D, Liu L and Darras BT.
Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study
FRONTIERS IN NEUROLOGY . 15: 1419791-1419791.
-
Fernandez-Simon, Esther, Pinol-Jurado, Patricia, Gokul-Nath, Rasya, Unsworth, Adrienne, Alonso-Perez, Jorge, Schiava, Marianela, Nascimento-Osorio A, Tasca, Giorgio, Queen, Rachel, Cox, Dan, Suarez-Calvet, Xavier and Diaz-Manera, Jordi.
Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy
Frontiers in Cell and Developmental Biology . 12: .
-
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 . : .
-
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.
-
Cao X, Lake M, Van der Hoeven G, Claes Z, Del Pino García J, Lemaire S, Greiner EC, Karamanou S, Van Eynde A, Kettenbach AN, Natera-de Benito D, Carrera-García L, Hernando-Davalillo C, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R and Bollen M.
SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1
NATURE COMMUNICATIONS . 15(1): 5359-5359.
-
Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD.
Clinical Response of Levodopa in CTNNB1 -Related Dystonia
Journal of Pediatric Neurology . : .