Publicacions
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Molero M, Casas-Alba D, Orellana G, Ormazabal-Herrero A, Sierra-March C, Oliva C, Valls-Lafon A, Velasco J, Launes-Montana C, Cuadras-Palleja D, Pérez-Dueñas B, Jordán-García I, Cambra-Lasaosa FJ, Ortigoza-Escobar JD, Munoz-Almagro C, Garcia-Cazorla A, Armangue-Salvador T and Artuch-Iriberri R.
Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases
SCIENTIFIC REPORTS . 10(1): 18291-18291. Nº de cites: 25
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Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons-Estupina C, Fernández-López A, Martorell-Sampol L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R and Van Esch H.
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity
AMERICAN JOURNAL OF HUMAN GENETICS . 107(4): 753-762. Nº de cites: 25
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Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Nº de cites: 12
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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 cites: 4
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Pearson TS, Gilbert L, Opladen T, Garcia-Cazorla A, Mastrangelo M, Leuzzi V, Tay SK, Sykut-Cegielska J, Pons R, Mercimek-Andrews S, Kato M, Lücke T, Oppebøen M, Kurian M, Steel D, Manti F, Meeks KD, Jeltsch K and Flint L.
AADCdeficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
JOURNAL OF INHERITED METABOLIC DISEASE . 43(5): 1121-1130. Nº de cites: 48
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Correa-Vela M, Lupo V, Montpeyó M, Sancho P, Marcé-Grau A, Hernández-Vara J, Darling A, Jenkins A, Fernández-Rodríguez S, Tello C, Ramírez-Jiménez L, Pérez B, Sánchez-Montáñez Á, Macaya A, Sobrido MJ, Martinez-Vicente M, Pérez-Dueñas B and Espinós C.
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
Annals of Clinical and Translational Neurology . 7(8): 1436-1442. Nº de cites: 17
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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 cites: 11
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Andermatten JA, Candela-Cantó SA, Jou-Munoz C, Aparicio J, Muchart-Lopez J, Martinez OC, Rumià J and Hinojosa J.
Gliomatosis cerebri and Rasmussen's encephalitis: Two different entities causing refractory epilepsy. Comparison through two clinical cases
Neurochirurgie . 66(4): 266-269.
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Posset R, Garbade SF, Gleich F, Gropman AL, de Lonlay P, Hoffmann GF, Garcia-Cazorla A, Nagamani SCS, Baumgartner MR, Schulze A, Dobbelaere D, Yudkoff M, Kölker S, Zielonka M, Urea Cycle Disorders Consortium (UCDC) and European registry and network for Intoxication type Metabolic Diseases (E-IMD).
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
SCIENTIFIC REPORTS . 10(1): 11948-11948. Nº de cites: 13
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De Vries MC, Brown DA, Allen ME, Bindoff L, Gorman GS, Karaa A, Keshavan N, Lamperti C, McFarland R, Ng YS, O'Callaghan-Gordo M, Pitceathly RDS, Rahman S, Russel FGM, Varhaug KN, Schirris TJJ and Mancuso M.
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus
JOURNAL OF INHERITED METABOLIC DISEASE . 43(4): 800-818. Nº de cites: 23