Publicaciones
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Santos-Gómez A, Miguez-Cabello F, García-Recio A, Locubiche S, García-Díaz R, Soto V, Guerrero-López R, Julià-Palacios NA, Ciruela F, Garcia-Cazorla A, Soto D, Olivella M and Altafaj X.
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function
HUMAN MOLECULAR GENETICS . 29(24): 3859-3871. Nº de citas: 19
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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 citas: 21
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Del-Prado-Sánchez C, Armstrong-Moron J, Veiga C, Grixolli-Mazzon S, Garcia-Cazorla A, Julià-Palacios NA and Morales-Ballús M.
Cataract in You-Hoover-Fong syndrome: TELO2 deficiency
OPHTHALMIC GENETICS . 41(6): 656-658. Nº de citas: 6
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Mantegazza R, O'Brien FL, Yountz M, Howard JF Jr and REGAIN study group.
Consistent improvement with eculizumab across muscle groups in myasthenia gravis
Annals of Clinical and Translational Neurology . 7(8): 1327-1339. Nº de citas: 19
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Armangue-Salvador T, Olivé-Cirera G, Martínez-Hernandez E, Sepulveda M, Ruiz-Garcia R, Muñoz-Batista M, Ariño H, González V, Felipe-Rucián A, Jesús Martínez-González M, Cantarín-Extremera V, Concepción Miranda-Herrero M, Monge-Galindo L, Tomás-Vila M, Miravet E, Málaga I, Arrambide G, Auger C, Tintoré M, Montalban X, Vanderver A, Graus F, Saiz A, Dalmau J and Spanish Pediatric anti-MOG Study Group.
Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study.
LANCET NEUROLOGY . 19(3): 234-246. Nº de citas: 196
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Murai H, Uzawa A, Suzuki Y, Imai T, Shiraishi H, Suzuki H, Okumura M, O'Brien F, Wang JJ, Fujita KP, Utsugisawa K and REGAIN Study Group.
Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study.
JOURNAL OF THE NEUROLOGICAL SCIENCES . 407: 116419-116419. Nº de citas: 13
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Andersen H, Mantegazza R, Wang JJ, O'Brien F, Patra K, Howard JF Jr and REGAIN Study Group.
Eculizumab improves fatigue in refractory generalized myasthenia gravis.
QUALITY OF LIFE RESEARCH . 28(8): 2247-2254. Nº de citas: 32
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Muppidi S, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Nowak RJ, Andersen H, Casasnovas C, de Bleecker JL, Vu TH, Mantegazza R, O'Brien FL, Wang JJ, Fujita KP, Howard JF Jr and Regain Study Group.
Long-term safety and efficacy of eculizumab in generalized myasthenia gravis.
MUSCLE & NERVE . 60(1): 14-24. Nº de citas: 152
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Julià-Palacios NA, Boronat S, Delgado I, Felipe A and Macaya A.
Pediatric Klüver-Bucy Syndrome: Report of Two Cases and Review of the Literature.
Neuropediatrics . 49(2): 104-111. Nº de citas: 5
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Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.
CLINICAL CHEMISTRY . : .