Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • Sanchez-Masian DF, Artuch-Iriberri R, Mascort J, Jakobs C, Salomons G, Zamora A, Casado-Rio M, Fernandez M, Recio A and Lujan A.

    L-2-hydroxyglutaric Aciduria in Two Female Yorkshire Terriers

    JOURNAL OF THE AMERICAN ANIMAL HOSPITAL ASSOCIATION . 48(5): 366-371. Nº de citas: 15

    [doi:10.5326/JAAHA-MS-5967]

  • Serrano M, Rebollo M, Depienne C, Rastetter A, Fernández-Alvarez E, Muchart-Lopez J, Martorell-Sampol L, Artuch-Iriberri R, Obeso JA and Pérez-Dueñas B.

    Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency

    MOVEMENT DISORDERS . 27(10): 1295-1303. Nº de citas: 33

    [doi:10.1002/mds.25008]

  • Gutiérrez-Mata AP, Vilaseca MA, Capdevila-Cirera A, Vidal-Oller M, Alonso-Colmenero I, Colomé-Roura R, López-Sala A, Lambruschini N, Gutiérrez A, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.

    Neurological, neuropsychological, and ophtalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients

    REVISTA DE NEUROLOGIA . 55(4): 200-206. Nº de citas: 3

    [doi:10.33588/rn.5504.2012038]

  • O'Callaghan-Gordo M, Emperador S, López-Gallardo E, Jou-Munoz C, Buján N, Montero-Sanchez R, Garcia-Cazorla A, Gonzaga D, Ferrer I, Briones P, Ruiz-Pesini E, Pineda M, Artuch-Iriberri R and Montoya J.

    New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset

    Neurogenetics . 13(3): 245-250. Nº de citas: 17

    [doi:10.1007/s10048-012-0322-0]

  • Pérez-Dueñas B, Sempere A, Campistol-Plana J, Alonso-Colmenero I, Díez M, González V, Merinero B, Desviat LR and Artuch-Iriberri R.

    Novel features in the evolution of adenylosuccinate lyase deficiency

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 16(4): 343-348. Nº de citas: 14

    [doi:10.1016/j.ejpn.2011.08.008]

  • Casado-Rio M, O'Callaghan-Gordo M, Montero-Sanchez R, Pérez-Cerda C, Pérez B, Briones P, Quintana E, Muchart-Lopez J, Aracil A, Pineda M and Artuch-Iriberri R.

    Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)

    Cerebellum . 11(2): 557-563. Nº de citas: 19

    [doi:10.1007/s12311-011-0313-y]

  • 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 citas: 14

    [doi:10.1016/j.pediatrneurol.2012.03.003]

  • 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 citas: 4

    [doi:10.33588/rn.5407.2011454]

  • 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 citas: 88

    [doi:10.1136/jmedgenet-2011-100394]

  • 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 citas: 17

    [doi:10.1016/j.braindev.2011.04.007]