Publicaciones
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Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch-Iriberri R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P and Crow YJ.
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
AMERICAN JOURNAL OF HUMAN GENETICS . 81(4): 713-725. Nº de citas: 359
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Serrano M, Lizarraga I, Reiss J, Dias AP, Pérez-Dueñas B, Vilaseca MA, Artuch-Iriberri R, Campistol-Plana J and Garcia-Cazorla A.
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency
PEDIATRIC RADIOLOGY . 37(10): 1043-1046. Nº de citas: 11
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Garcia-Cazorla A, Serrano M, Pérez-Dueñas B, González V, Ormazabal-Herrero A, Pineda M, Fernández-Alvarez E, Campistol-Plana J and Artuch-Iriberri R.
Secondary abnormalities of neurotransmitters in infants with neurological disorders
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 49(10): 740-744. Nº de citas: 35
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Ramaekers VT, Sequeira JM, Artuch-Iriberri R, Blau N, Temudo T, Ormazabal-Herrero A, Pineda M, Aracil A, Roelens F, Laccone F and Quadros EV.
Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome
Neuropediatrics . 38(4): 179-183. Nº de citas: 47
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Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Artuch-Iriberri R, Coroleu W, Krauel Vidal X, Campistol-Plana J and Garcia-Cazorla A.
Perinatal asphyxia may cause reduction in csf dopamine metabolite concentrations
Neurology . 69(3): 311-313. Nº de citas: 5
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López-Laso E, Camino R, Mateos ME, Pérez-Navero JL, Ochoa JJ, Lao-Villadóniga JI, Ormazabal-Herrero A and Artuch-Iriberri R.
Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency
JOURNAL OF THE NEUROLOGICAL SCIENCES . 256(1-2): 90-93. Nº de citas: 13
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Campistol-Plana J, Arias-Dimas A, Poo P, Pineda M, Hoffman M, Vilaseca MA, Artuch-Iriberri R and Ribes A.
Cerebral creatine transporter deficiency:: An infradiagnosed neurometabolic disease
REVISTA DE NEUROLOGIA . 44(6): 343-347. Nº de citas: 8
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García-Vicente S, Yraola F, Marti L, González-Muñoz E, García-Barrado MJ, Cantó C, Abella A, Bour S, Artuch-Iriberri R, Sierra-March C, Brandi-Tarrau N, Carpéné C, Moratinos J, Camps M, Palacín M, Testar X, Gumà A, Albericio F, Royo M, Mian A and Zorzano A.
Oral insulin-mimetic compounds that act independently of insulin
Diabetes . 56(2): 486-493. Nº de citas: 61
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Vilaseca MA, Artuch-Iriberri R, Bauzá, FR, Pineda M, García, A and Campistol-Plana J.
Diagnóstico diferencial de la hiperhomocisteinemia en pediatría
Química Clínica . 26(4): 191-195.
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Montero-Sanchez R, Pineda M, Aracil A, Vilaseca MA, Briones P, Sánchez-Alcázar JA, Navas P and Artuch-Iriberri R.
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency
Cerebellum . 6(2): 118-122. Nº de citas: 46