Publicaciones
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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. Nº de citas: 19
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Rubio-Gozalbo, ME, Derks, B, Das, AM, Meyer, U, Moslinger, D, Couce, ML, Empain, A, Ficicioglu, C, Julià-Palacios NA, de los Santos MM, Rivera, IA, Scholl-Burgi, S, Bosch, AM, Cassiman, D, Demirbas, D, Gautschi, M, Knerr, I, Labrune, P, Skouma, A, Verloo, P, Wortmann, SB, Treacy, EP, Timson, DJ and Berry, GT.
Galactokinase deficiency: lessons from the GalNet registry
GENETICS IN MEDICINE . 23(1): 202-210. Nº de citas: 18
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García-Recio A, Santos-Gómez A, Soto D, Julià-Palacios NA, Garcia-Cazorla A, Altafaj X and Olivella M.
GRIN database: A unified and manually curated repertoire of GRIN variants
HUMAN MUTATION . 42(1): 8-18. Nº de citas: 30
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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: 23
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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: 7
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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: 22
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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: 213
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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: 14
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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: 35