Publicaciones
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Casas-Alba D, Oliva C, Salgado MDC, Codina-Bergadà A, Agut-Quijano T, García-Alix A, Garcia-Puig M, Garcia-Cazorla A, Taglialatela M, Jou-Munoz C, Artuch-Iriberri R and Fons-Estupina C.
Cerebrospinal Fluid Ion Analysis in Neonatal Seizures
PEDIATRIC NEUROLOGY . 128: 16-19. Nº de citas: 1
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Colomer A, Sanabria JP, Hernández-Negrín H, Borràs X, Suso-Ribera C, García-Palacios A, Muchart-Lopez J, Munuera-del Cerro JL, Francesco D'Amico, Maes M, Younger JW, Feliu A, Rozadilla A and Luciano JV.
Study protocol for a randomised, double-blinded, placebo-controlled phase III trial examining the add-on efficacy, cost-utility and neurobiological effects of low-dose naltrexone (LDN) in patients with fibromyalgia (INNOVA study)
BMJ Open . 12(1): . Nº de citas: 7
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Fernández-Ramos JA, De la Torre-Aguilar MJ, Quintáns B, Pérez-Navero JL, Beyer K and López-Laso E.
Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.
PARKINSONISM & RELATED DISORDERS . 94: 67-78. Nº de citas: 2
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Migliorelli C, Medina-Rivera IF, Bachiller A, Tost A, Alonso-Lopez JF, López-Sala A, Armstrong-Moron J, O'Callaghan-Gordo M, Pineda M, Mañanas MA, Romero-Lafuente S and Garcia-Cazorla A.
Cognitive stimulation has potential for brain activation in individuals with Rett syndrome
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH . 66(3): 213-224. Nº de citas: 5
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Santos-Gómez A, Miguez-Cabello F, Julià-Palacios NA, García-Navas D, Soto-Insuga V, García-Peñas JJ, Fuentes P, Ibáñez-Micó S, Cuesta L, Cancho R, Andreo-Lillo P, Gutiérrez-Aguilar G, Alonso-Luengo O, Málaga I, Hedrera-Fernández A, Garcia-Cazorla A, Soto D, Olivella M and Altafaj X.
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(23): 12656. Nº de citas: 6
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Brugada-Bellsolà F, Candela-Cantó SA, Muchart-Lopez J, Aparicio J, Alamar AM, Becerra Castro V, Rumià Arboix J and Hinojosa Mena-Bernal J.
Delayed hemorrhage after pediatric stereo-electroencephalography: delayed occurrence or delayed diagnosis?
CHILDS NERVOUS SYSTEM . 37(12): 3817-3826. Nº de citas: 3
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Tamura N, Sakai S, Martorell-Sampol L, Colomé-Roura R, Mizuike A, Goto A, Ortigoza-Escobar JD and Hanada K.
Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution
JOURNAL OF BIOLOGICAL CHEMISTRY . 297(5): 101338-101338. Nº de citas: 9
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Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J and Artuch-Iriberri R.
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call
GENES . 12(10): 1590. Nº de citas: 9
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Xiol-Viñas C, Marina Heredia Torras, Pascual-Alonso A, De Oyarzabal-Sanz AL and Armstrong-Moron J.
Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(19): 10375. Nº de citas: 2
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Tenorio-Castaño J, Arias P, Fernández-Jaén A, Lay-Son G, Bueno-Lozano G, Bayat A, Faivre L, Gallego N, Ramos S, Butler KM, Morel C, Hadjiyannakis S, Lespinasse J, Tran-Mau-Them F, Santos-Simarro F, Pinson L, Martinez-Monseny T, O'Callaghan-Gordo M, Álvarez S, Stolerman ES, Washington C, Ramos FJ, Consortium TS and Lapunzina P.
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.
CLINICAL GENETICS . 100(4): 405-411. Nº de citas: 3