Publications
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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. Number of citations: 6
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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. Number of citations: 3
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Carrera-García L, Muchart-Lopez J, Lazaro JJ, Exposito-Escudero JM, Cuadras-Palleja D, Medina J, Bosch de Basea M, Colomer J, Jimenez-Mallebrera C, Ortez-Gonzalez CI, Natera-de Benito D and Nascimento-Osorio A.
Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 31: 92-101. Number of citations: 8
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Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong-Moron J, Renieri A and Mari F.
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
CLINICAL GENETICS . 99(3): 462-474. Number of citations: 12
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Opladen T, Gleich F, Kozich V, Scarpa M, Martinelli D, Schaefer F, Jeltsch K, Julià-Palacios NA, Garcia-Cazorla A, Dionisi-Vici C and Kölker S.
U-IMD: the first Unified European registry for inherited metabolic diseases
ORPHANET JOURNAL OF RARE DISEASES . 16(1): 95-95. Number of citations: 13
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García-Hernández JL, Corchete LA, Marcos-Alcalde Í, Gómez-Puertas P, Fons-Estupina C and Lazo PA.
Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome.
HUMAN GENOMICS . 15(1): 11-11. Number of citations: 4
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Ortíz-Maldonado V, Rives-Solà S, Castellà M, Alonso-Saladrigues A, Benítez-Ribas D, Caballero-Baños M, Baumann T, Jordi Cid Colom, Garcia-Rey E, Llanos C, Torrebadell-Burriel M, Villamor N, Giné E, Díaz-Beyá M, Guardia L, Montoro M, Català-Temprano A, Faura A, González EA, Español-Rego M, Klein-González N, Alsina L, Castro P, Jordán-García I, Fernández S, Ramos F, Suñé G, Perpiñá U, Canals JM, Lozano M, Trias E, Scalise A, Varea S, Sáez-Peñataro J, Torres F, Calvo G, Esteve J, Urbano-Ispizua Á, Juan-Otero M and Delgado J.
CART19-BE-01: A Multicenter Trial of ARI-0001 Cell Therapy in Patients with CD19+Relapsed/Refractory Malignancies
MOLECULAR THERAPY . 29(2): 636-644. Number of citations: 68
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Castells AA, Balada R, Tristan-Noguero A, O'Callaghan-Gordo M, Cortés-Saladelafont E, Pascual-Alonso A, Garcia-Cazorla A, Armstrong-Moron J and Alcántara S.
Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy
Biomedicines . 9(2): 148. Number of citations: 1
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Castiglioni C, Feillet F, Barnerias C, Wiedemann A, Muchart-Lopez J, Cortes F, Hernando-Davalillo C, Montero-Sanchez R, Dupré T, Bruneel A, Seta N, Vuillaumier-Barrot S and Serrano M.
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
HUMAN MUTATION . 42(2): 142-149. Number of citations: 7
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Cruz-Martínez O, Caloretti V, Salvador-Hernandez H, Celis-Passini V, Santa-María López V, Morales-La Madrid A, Suñol M, Puerta P, Muchart-Lopez J, Krauel L and Lavarino C.
Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome
HEREDITARY CANCER IN CLINICAL PRACTICE . 19(1): 1-1.