Publicacions
-
López-Laso E, Beyer K, Opladen T, Artuch-Iriberri R and Saunders-Pullman R.
Dyskinesias as a Limiting Factor in the Treatment of Segawa Disease
PEDIATRIC NEUROLOGY . 46(6): 404-406. Nº de cites: 14
-
Jimenez E, Ormazabal-Herrero A, Serrano M, Ortez-Gonzalez CI, Artuch-Iriberri R, Garcia-Cazorla A and Campistol-Plana J.
Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases
REVISTA DE NEUROLOGIA . 54(7): 394-398. Nº de cites: 4
-
Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, Doimo M, Cassina M, Agosto C, Desbats MA, Sartori G, Sacconi S, Memo L, Zuffardi O, Artuch-Iriberri R, Quinzii C, Dimauro S, Hirano M, Santos-Ocaña C and Navas P.
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency
JOURNAL OF MEDICAL GENETICS . 49(3): 187-191. Nº de cites: 88
-
Fons-Estupina C, Rizzu P, Garcia-Cazorla A, Martorell-Sampol L, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J and Fernández-Alvarez E.
TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment
BRAIN & DEVELOPMENT . 34(3): 255-257. Nº de cites: 17
-
Fons-Estupina C, Campistol-Plana J, Panagiotakaki, E, Giannotta, M, Arzimanoglou A, Gobbi, G, Neville, B, Ebinger, F, Nevsímalová, S, Laan, L, Casaer, P, Spiel, G, Ninan, M, Sange, G, Artuch-Iriberri R, Schyns, T, Vavassori, R and Poncelin, D.
Alternating hemiplegia of childhood: Metabolic studies in the largest European series of patients
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 16(1): 10-14. Nº de cites: 25
-
Villar C, Campistol-Plana J, Fons-Estupina C, Armstrong-Moron J, Mas A, Ormazabal-Herrero A and Artuch-Iriberri R.
Glycine and L-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients
JIMD Reports . 4: 13-16. Nº de cites: 4
-
López-Laso E, Sánchez-Raya A, Moriana JA, Martínez-Gual E, Camino-León R, Mateos-González ME, Pérez-Navero JL, Ochoa-Sepúlveda JJ, Ormazabal-Herrero A, Opladen T, Klein C, Lao-Villadóniga JI, Beyer K and Artuch-Iriberri R.
Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease
JOURNAL OF NEUROLOGY . 258(12): 2155-2162. Nº de cites: 24
-
Tondo M, Málaga I, O'Callaghan-Gordo M, Serrano M, Emperador S, Ormazabal-Herrero A, Ruiz-Pesini E, Montoya J, Garcia-Silva MT, Martin-Hernandez E, Garcia-Cazorla A, Pineda M and Artuch-Iriberri R.
Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients
Mitochondrion . 11(6): 867-870. Nº de cites: 8
-
Delgadillo V, O'Callaghan-Gordo M, Artuch-Iriberri R, Montero-Sanchez R and Pineda M.
Genistein supplementation in patients affected by Sanfilippo disease
JOURNAL OF INHERITED METABOLIC DISEASE . 34(5): 1039-1044. Nº de cites: 77
-
Arrabal L, Teresa L, Sánchez-Alcudia R, Castro M, Medrano C, Gutiérrez-Solana L, Roldán S, Ormazabal-Herrero A, Pérez-Cerdá C, Merinero B, Pérez B, Artuch-Iriberri R, Ugarte M and Desviat LR.
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
Neurogenetics . 12(3): 183-191. Nº de cites: 32