Publications
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Matos IV, Castejón E, Meavilla S, O'Callaghan-Gordo M, Garcia-Villoria J, López-Sala A, Ribes A, Artuch-Iriberri R and Garcia-Cazorla A.
Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency
MOLECULAR GENETICS AND METABOLISM . 109(4): 360-365. Number of citations: 29
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Duarte ST, Armstrong-Moron J, Roche-Martinez A, Ortez-Gonzalez CI, Pérez A, O'Callaghan-Gordo M, Pereira A, Sanmartí F, Ormazabal-Herrero A, Artuch-Iriberri R, Pineda M and Garcia-Cazorla A.
Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome
PLoS One . 8(7): . Number of citations: 60
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Montero-Sanchez R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch-Iriberri R and Jimenez-Mallebrera C.
Coenzyme Q(10) deficiency in mitochondrial DNA depletion syndromes
Mitochondrion . 13(4): 337-341. Number of citations: 46
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Pons R, Syrengelas D, Youroukos S, Orfanou I, Dinopoulos A, Cormand B, Ormazabal-Herrero A, Garcia-Cazorla A, Serrano M and Artuch-Iriberri R.
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency
MOVEMENT DISORDERS . 28(8): 1058-1063. Number of citations: 60
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Molero M, Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Garcia-Cazorla A, Pons R and Artuch-Iriberri R.
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 55(6): 559-566. Number of citations: 37
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Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell-Sampol L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, Garcia-Cazorla A, Edery P, Jackson IJ, Maher ER and Aligianis IA.
Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and GenotypePhenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
HUMAN MUTATION . 34(5): 686-696. Number of citations: 104
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Jiménez E, Garcia-Cazorla A, Colomer J, Nascimento-Osorio A, Iriondo-Sanz M and Campistol-Plana J.
Hypotonia in the neonatal period: 12 years' experience
REVISTA DE NEUROLOGIA . 56(2): 72-78. Number of citations: 5
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Calpena E, Casado-Rio M, Martínez-Rubio D, Nascimento-Osorio A, Colomer J, Gargallo-Burriel E, Garcia-Cazorla A, Palau F, Artuch-Iriberri R and Espinós C.
5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes
JIMD Reports . 7: 123-128. Number of citations: 11
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Palanca D, Garcia-Cazorla A, Ortiz J, Jou-Munoz C, Cusi V, Suñol M, Toll T, Perez B, Ormazabal-Herrero A, Fowler B and Artuch-Iriberri R.
cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period
JIMD Reports . 8: 57-62. Number of citations: 6
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Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC and Crow YJ.
Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature
NATURE GENETICS . 44(11): 1243-1248. Number of citations: 687