Publicaciones
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Rodriguez H, Nou-Fontanet L, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Pias-Peleteiro LD, Gutierrez A, Perera A, Garcia-Cazorla A, Fons-Estupina C and Artuch-Iriberri R.
Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy
NEUROBIOLOGY OF DISEASE . 216: 107098-107098.
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Nolasco-Tovar GA, Roldan-Molina M, Jamshidi Y, Georvasilis I, Rodríguez RJ, Boostani R, Shoeibi A, Armengol L, Codina-Bergadà A, Karimiani EG, Hernando-Davalillo C, Martorell-Sampol L, Ramírez Almaraz ML, Muchart-Lopez J, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R, Natera-de Benito D and Serrano M.
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology . : .
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Gil-González, M, Arias, C, Saudubray, J, Colomé-Roura R and Garcia-Cazorla A.
Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review
JOURNAL OF INHERITED METABOLIC DISEASE . 48(5): .
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Nou-Fontanet L, Musokhranova U, Ramírez-Camacho A, Delgadillo V, Insuga VS, Fernández LA, Alonso-Colmenero I, Arzimanoglou A, Garcia-Cazorla A, De Oyarzabal-Sanz AL and Fons-Estupina C.
AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 58: 20-26.
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Slušná D, Muchart-Lopez J, Hinzen W and Canales-Rodríguez EJ.
White matter microstructure of language pathways in non-verbal autism: insights from diffusion tensor imaging and myelin water imaging.
FRONTIERS IN HUMAN NEUROSCIENCE . 19: 1551868-1551868.
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Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease
ANNALS OF NEUROLOGY . : .
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Asbreuk MABC, Schoenmakers DH, Adang LA, Beerepoot S, Bergner C, Bley A, Boelens JJ, Bugiani M, Calbi V, Garcia-Cazorla A, Eklund EA, Fumagalli F, Grønborg SW, Groeschel S, Van Hasselt PM, Hollak CEM, Jones SA, de Koning TJ, van Kuilenburg ABP, Laugwitz L, Lindemans C, Mochel F, Øberg A, Ram D, Schöls L, Sevin C, Sinha J, Vaz FM, Zerem A and Wolf NI.
Metachromatic Leukodystrophy
Neurology . 105(2): .
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Schoenmakers DH, Asbreuk MABC, Martin T, Datema M, Beerepoot S, Inbar-Feigenberg M, Groeschel S, Kehrer C, Øberg A, Sevin C, Fumagalli F, Bergner CG, Vieira P, Bley A, Uusimaa J, Horn MA, Brožová K, Stögmann E, Pichler H, Lüftinger R, Eklund EA, Mochel F, Adang LA, Laugwitz L, Boelens JJ, Calbi V, Darling A, Garcia-Cazorla A, Grønborg SW, Lindemans CA, van Hasselt PM, Hollak CEM, de Koning TJ, Ram D, Dekker H, Schöls L, Zerem A, Graessner H and Wolf NI.
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 57: 72-81.
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Marina Caballero Bellón, Santa-María López V, Marti-Sanchez L, Martorell-Sampol L, Salinas D, Hinojosa J, Becerra MV, Pavon-Mengual M, Morales-La Madrid A, Cruz-Martínez O, Muchart-Lopez J and Salvador-Hernandez H.
Very early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease
JOURNAL OF MEDICAL GENETICS . 62(6): 409-412.
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Garcia-Cazorla A, Sevin C, Ribeiro J, Yazbeck E, Rosewich H, Jimenez S, Chia-Yi Chiang G, Rapalino O, Caruso P, Balentine D, Helmer KG, Bennett S, Emanuele M, Rodriguez-Pascau L, Pizcueta P, Pina G, Vilà A, Rovira M, Mantilla A, Meya U, Mistry A, Pascual M, Pascual S, Martinell M, Musolino PL and Mallack E.
Safety and efficacy of leriglitazone in childhood cerebral adrenoleukodystrophy (NEXUS): an interim analysis of an open-label, phase 2/3 trial
EClinicalMedicine . 84: 103265-103265.
