Publicaciones
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François C, Ripollés P, Ferreri L, Muchart-Lopez J, Sierpowska J, Fons-Estupina C, Solé J, Rebollo M, Zatorre RJ, García-Alix A, Bosch-Galceran L and Rodriguez-Fornells A.
RIGHT STRUCTURAL AND FUNCTIONAL REORGANIZATION IN 4-YEAR-OLD CHILDREN WITH PERINATAL ARTERIAL ISCHEMIC STROKE PREDICT LANGUAGE PRODUCTION
eNeuro . 6(4): . Nº de citas: 21
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Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Maynou-Fernández J, Fernandez-Isern G, Xiol C, Pascual-Alonso A, Pineda M and Armstrong-Moron J.
The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 23(4): 609-620. Nº de citas: 24
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Marcé-Grau A, Marti-Sanchez L, Baide-Mairena H, Ortigoza-Escobar JD and Pérez-Dueñas B.
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies
JOURNAL OF INHERITED METABOLIC DISEASE . 42(4): 581-597. Nº de citas: 81
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Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S and UCDC and the E-IMD consortia study group.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
ANNALS OF NEUROLOGY . 86(1): 116-128. Nº de citas: 47
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Saudubray JM, Mochel F, Lamari F and Garcia-Cazorla A.
Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians
JOURNAL OF INHERITED METABOLIC DISEASE . 42(4): 706-727. Nº de citas: 37
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Casas-Alba D, Valero-Rello A, Muchart-Lopez J, Armangue-Salvador T, Jordán-García I, Cabrerizo M, Molero M, Artuch-Iriberri R, Fortuny-Guasch C, Munoz-Almagro C and Launes-Montana C.
Cerebrospinal Fluid Neopterin in Children With Enterovirus-Related Brainstem Encephalitis
PEDIATRIC NEUROLOGY . 96: 70-73. Nº de citas: 8
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Castells AA, Gueraldi D, Balada R, Tristan-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla-Olivas SM, De Los Santos M, García-Volpe C, Colomé-Roura R, Couce ML, Sierra-March C, Ormazabal-Herrero A, Batllori-Tragant M, Artuch-Iriberri R, Armstrong-Moron J, Alcántara S and Garcia-Cazorla A.
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism
SCIENTIFIC REPORTS . 9: 9128-9128. Nº de citas: 4
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Soto D, Olivella M, Grau-Páez C, Armstrong-Moron J, Alcon C, Gasull X, Santos-Gómez A, Locubiche S, de Salazar MG, García-Díaz R, Gratacòs-Batlle E, Ramos-Vicente D, Chu-Van E, Colsch B, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, Garcia-Cazorla A and Altafaj X.
L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy
SCIENCE SIGNALING . 12(586): . Nº de citas: 59
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Palacio-Navarro A, López-Sala A, Colomé-Roura R, Turón M, Callejón L, Marta Sanz Palau, Sans A, Poo P and Boix Lluch C.
Efficacy of a new parent and school-supported intervention after moderate and severe childhood traumatic brain injury
REVISTA DE NEUROLOGIA . 68(11): 445-452. Nº de citas: 1
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Tenorio J, Alarcón P, Arias P, Ramos F, Campistol-Plana J, Climent S, García-Miñaur S, Dapia I, Hernández A, Nevado J, Solís M, Ruiz Pérez VL, Consortium TSOGRI and Lapunzina P.
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.
CLINICAL GENETICS . 95(6): 726-731. Nº de citas: 11