Publications
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Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
SCIENTIFIC REPORTS . 9(1): 11983-11983. Number of citations: 9
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Vidal-Falcó S, Xiol-Viñas C, Pascual-Alonso A, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.
Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 20(16): . Number of citations: 28
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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. Number of citations: 28
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Vidal-Falcó S, Pascual-Alonso A, Rabaza-Gairí M, Gerotina E, Brandi-Tarrau N, Pacheco-Fernández P, Xiol-Viñas C, Pineda M and Armstrong-Moron J.
Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
Molecular genetics & genomic medicine . 7(8): . Number of citations: 5
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Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM and Houlden H.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
NATURE COMMUNICATIONS . 10(1): 3094-3094. Number of citations: 128
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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. Number of citations: 140
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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. Number of citations: 22
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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. Number of citations: 50
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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. Number of citations: 40
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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. Number of citations: 25