Publicacions
-
Natera-de Benito D, Sola A, Sousa PR, Boronat S, Exposito-Escudero JM, Carrera-García L, Ortez-Gonzalez CI, Jou-Munoz C, Muchart-Lopez J, Rebollo M, Armstrong-Moron J, Colomer J, Garcia-Cazorla A, Hoenicka J, Palau F and Nascimento-Osorio A.
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype
PEDIATRIC NEUROLOGY . 119: 40-44. Nº de cites: 4
-
Yubero-Siles D, Natera-de Benito D, Pijuan-Marquilles J, Armstrong-Moron J, Martorell-Sampol L, Fernandez-Isern G, Maynou-Fernández J, Jou-Munoz C, Roldan-Molina M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(8): 4274. Nº de cites: 10
-
Esteve-Solé A, Anton-Lopez J, Pino-Ramirez RM, Sánchez-Manubens J, Fumadó V, Fortuny-Guasch C, Rios-Barnés M, Sanchez deToledo J, Girona M, Mosquera-Angarita JM, Ricart S, Launes-Montana C, Fernández de Sevilla-Estrach M, Jou-Munoz C, Munoz-Almagro C, González-Roca E, Vergara A, Carrillo J, Juan-Otero M, Cuadras-Palleja D, Noguera-Julián A, Jordán-García I and Alsina L.
Similarities and differences between the immunopathogenesis of COVID-19-related pediatric multisystem inflammatory syndrome and Kawasaki disease
JOURNAL OF CLINICAL INVESTIGATION . 131(6): 1-28. Nº de cites: 84
-
Natera-de Benito D, Foley AR, Domínguez-González C, Ortez-Gonzalez CI, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun P, Ogata T, Medina J, Vigo-Morancho M, Meilleur KG, Leach ME, Dastgir J, Díaz-Manera J, Carrera-García L, Exposito-Escudero JM, Macarena Maria Alejandra Alarcón Cornejo, Cuadras-Palleja D, Montiel-Morillo E, Milisenda JC, Dominguez-Rubio R, Olivé M, Colomer J, Jou-Munoz C, Jimenez-Mallebrera C, Bönnemann CG and Nascimento-Osorio A.
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies
Neurology . 96(10): 1413-1424. Nº de cites: 10
-
Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Exposito-Escudero JM, César-Díaz S, Martorell-Sampol L, Gallano P, Gonzalez-Quereda L, Cuadras-Palleja D, Colomer J, Yubero-Siles D, Palau F and Nascimento-Osorio A.
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort
PEDIATRIC NEUROLOGY . 115: 50-65. Nº de cites: 10
-
Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group.
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
ACTA NEUROPATHOLOGICA . 140(6): 971-975. Nº de cites: 20
-
Paredes-Fuentes AJ, Montero-Sanchez R, Codina-Bergadà A, Jou-Munoz C, Fernandez-Isern G, Maynou-Fernández J, Santos-Ocaña C, Riera J, Navas P, Drobnic F and Artuch-Iriberri R.
Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples
ANTIOXIDANTS . 9(10): . Nº de cites: 13
-
Bobadilla-Quesada EJ, Natera-de Benito D, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero J, Jimenez-Mallebrera C, Jou-Munoz C, Codina-Bergadà A, Joan R. Corbera Torredeflò, Moya O, Saez V, Gonzalez-Quereda L, Gallano P, Colomer J, Cuadras-Palleja D, Medina J, Yoldi ME and Nascimento-Osorio A.
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome
NEUROMUSCULAR DISORDERS . 30(9): 719-726. Nº de cites: 3
-
Andermatten JA, Candela-Cantó SA, Jou-Munoz C, Aparicio J, Muchart-Lopez J, Martinez OC, Rumià J and Hinojosa J.
Gliomatosis cerebri and Rasmussen's encephalitis: Two different entities causing refractory epilepsy. Comparison through two clinical cases
Neurochirurgie . 66(4): 266-269.
-
Nunes Dias L, Candela-Cantó SA, Jou-Munoz C, Aparicio J, García-García S and Mena-Bernal JH.
Multinodular and vacuolating neuronal tumor associated with focal cortical dysplasia in a child with refractory epilepsy: a case report and brief review of literature.
CHILDS NERVOUS SYSTEM . 36(7): 1557-1561. Nº de cites: 7