Publicaciones
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Ribasés M, Serrano M, Fernández-Alvarez E, Pahisa S, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Artuch-Iriberri R and Cormand B.
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy:: Clinical, biochemical and genetic analysis
MOLECULAR GENETICS AND METABOLISM . 92(3): 274-277. Nº de citas: 28
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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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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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Sempere-Pérez A, Campistol-Plana J, Garcia-Cazorla A, Guillen-Quesada A and Pérez-Muñoz N.
Multiple familial cerebral cavernomatosis
REVISTA DE NEUROLOGIA . 44(11): 657-660. Nº de citas: 9
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Cardesa-Salzmann TM, Mora J, Garcia-Cazorla A, Cruz-Martínez O, Munoz-Almagro C and Campistol-Plana J.
Epstein-Barr virus related opsoclonus-myoclonus-ataxia does not rule out the presence of occult neuroblastic tumors
PEDIATRIC BLOOD & CANCER . 47(7): 964-967. Nº de citas: 17
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Garcia-Cazorla A, Pérez-Dueñas B, Pineda M, Artuch-Iriberri R, Vilaseca MA and Campistol-Plana J.
[Orientation of mental retardation from neurometabolic diseases].
REVISTA DE NEUROLOGIA . 43 Suppl 1: 187-92. Nº de citas: 3
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Gömez L, Garcia-Cazorla A, Gutiérrez A, Artuch-Iriberri R, Varea V, Martín J, Pinillos S and Vilaseca MA.
Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance
JOURNAL OF INHERITED METABOLIC DISEASE . 29(5): 687-687. Nº de citas: 9
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Gissen P, Tee L, Johnson CA, Genin E, Caliebe A, Chitayat D, Clericuzio C, Denecke J, Di Rocco M, Fischler B, FitzPatrick D, Garcia-Cazorla A, Guyot D, Jacquemont S, Koletzko S, Leheup B, Mandel H, Sanseverino MT, Houwen RH, McKiernan PJ, Kelly DA and Maher ER.
Clinical and molecular genetic features of ARC syndrome
HUMAN GENETICS . 120(3): 396-409. Nº de citas: 89