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Desenvolupament neuronal i malalties metabòliques
Producció científica 2007
Arias A, Corbella M, Fons C, Sempere A, García Villoria J, Ormazábal A, Poo P, Pineda M,
Vilaseca MA, Campistol J, Briones P, Pampols T, Salomons GS, Ribes A, Artuch R. Creatine
transporter deficiency: prevalence among patients with mental retardation and pitfalls in
metabolite screening. Clin Biochem 2007 ; 40 (16-17) : 1328-31
Factor impacte: 2,072
Campistol J, Arias A, Poo P, Pineda M, Hoffmann M, Vilaseca MA, Artuch R, Ribes A. Deficiencia
del transportador de creatina cerebral: una enfermedad neurometabólica infradiagnosticada. Rev
Neurol 2007 ; 44 (6) : 343-7
Factor impacte: 0,736
Campistol J. Enfermedades neurometabólicas de presentación neonatal como causantes de
trastornos del neurodesarrollo. Rev Neurol 2007 ; 44 (S03) : S19-S25
Factor impacte: 0,391
Català-Temprano A, Claret Teruel G, Cambra FJ, Pons Odena M, Noguera A, Palomeque A.
Intracranial pressure and cerebral perfusion pressure as risk factors in children with traumatic
brain injuries. J Neurosurg 2007 ; 106 (6 Suppl) : 463-6
Factor impacte: 1,990
Claret Teruel G, Palomeque A, Cambra FJ, Català-Temprano A, Noguera A, Costa JM. Severe
head injury among children: computed tomography evaluation as a prognostic factor. J Pediatr
Surg 2007 ; 42 (11) : 1903-6
Factor impacte: 1,227
Donati F, Gobbi G, Campistol J, Rapatz G, Daehler M, Sturm Y, Aldenkamp AP. Oxcarbazepine
Cognitive Study Group. The cognitive effects of oxcarbazepine versus carbamazepine or
valproate in newly diagnosed children with partial seizures. Seizure 2007 ; 16 (8) : 670-9
Factor impacte: 1,815
Fons-Estupiñá MC, Poo P, Colomer J, Campistol J. Secuencia de Moebius: hallazgos
clinicorradiológicos. Rev Neurol 2007 ; 44 (10) : 583-8
Factor impacte: 0,736
García Cazorla A, Serrano M, Pérez Dueñas B, González V, Ormazábal A, Pineda M, Fernández
Álvarez E, Campistol J, Artuch R. Secondary abnormalities of neurotransmitters in infants with
neurological disorders. Dev Med Child Neurol 2007 ; 49 (10) : 740-4
Factor impacte: 2,433
García Vicente S, Yraola F, Martí L, González Muñoz E, García Barrado MJ, Cantó C, Abella A,
Bour S, Artuch R, Sierra C, Brandi N, Carpéné C, Moratinos J, Camps M, Palacín M, Testar X,
Gumà A, Albericio F, Royo M, Mian A, Zorzano A. Oral insulin-mimetic compounds that act
independently of insulin. Diabetes 2007 ; 56 (2) : 486-93
Factor impacte: 8,261
Karall D, Haberlandt E, Scholl Burgi E, Baumgartner S, Naudó M, Martorell L. Homozygosity for
MECP2 gene in a girl with classical Rett syndrome. Eur J Med Genet 2007 ; 50 (6) : 465-8
Factor impacte: 1,857
Lasuen del Olmo N, Palomeque A. Convulsiones en el paciente pediátrico. Jano 2007 ; 1653 :
32-7
López Laso E, Camino R, Mateos ME, Pérez Navero JL, Ochoa JJ, Lao-Villadóniga JI,
Ormazábal A, Artuch R. Dopa-responsive infantile hypokinetic rigic syndrome due to dominant
guanosine triphosphate cyclohydrolase 1 deficiency. J Neurol Sci 2007 ; 256 (1-2) : 90-3
Factor impacte: 2,315
Martorell L, Cobo AM, Baiget M, Naudó M, Poza JJ, Parra J. Prenatal diagnosis in myotonic
dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1
families. Prenat Diagn 2007 ; 27 (1) : 68-72
Factor impacte: 1,319
Montero R, Pineda M, Aracil A, Vilaseca MA, Briones P, Sánchez-Alcázar JA, Navas P, Artuch R.
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficency.
Cerebellum 2007 ; 6 (2) : 118-22
Factor impacte: 2,306
Muller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U,
Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aarimaa T, Krahe R, Karcagi V,
Huebner A, Beeson D, Abicht A, Lochmüller H. Phenotypical spectrum of DOK7 mutations in
congenital myasthenic syndromes. Brain 2007 ; 130 (6) : 1497-506
Factor impacte: 8,568
Navarro R, Javahery R, Levi A. Infrahyoid muscle flap for pharyngeal fistulae after cervical spine
surgery: a novel approach-report of six cases. Eur Spine J 2007 ; 16 (10) : 1774
Factor impacte: 2,021
Navarro R, Alonso I, Costa JM. Relevance of surgical strategies for the management of paediatric
Chiari type I malformation. Childs Nerv Syst 2007 ; 23 (7) : 725-6
Factor impacte: 0,993
Pascual SI, Herrera A, Poo P, García Aymerich V, Aguilar Barberá M, Bori Fortuny I, García Ruiz
PJ, Garreta R, Lanzas G, De Miguel I, Miquel F, Vivancos F. Grupo Español de Espasticidad.
Guía terapéutica de la espasticidad infantil con toxina botulínica. Rev Neurol 2007 ; 44 (5) : 303-9
Factor impacte: 0,736
Ramaekers VT, Sequeira JM, Artuch R, Blau N, Temudo T, Ormazábal A, Pineda M, Aracil A,
Roelens F, Laccone F, Quadros EV. Folate receptor autoantibodies and spinal fluid 5methyltetrahydrofolate deficency in rett syndrome. Neuropediatrics 2007 ; 38 (4) : 179-83
Factor impacte: 1,225
Ribasés M, Serrano M, Fernández Álvarez E, Pahisa S, Ormazábal A, García Cazorla A, Pérez
Dueñas B, Campistol J, Artuch R, Cormand B. A homozygous tyrosine hydroxylase gene
promoter mutation in a patient with dopa-responsive encephalopathy: Clinical, biochemical and
genetic analysis. Mol Genet Metab 2007 ; 92 (3) : 274-7
Factor impacte: 2,550
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch 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, García 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, 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, 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, Crow YJ. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum
Genet 2007 ; 81 (4) : 713-25
Factor impacte: 11,092
Rodríguez Rodríguez CM, Pineda M, Duque R, Cormier-Daire V. Síndrome de Dyggve-MelchiorClausen, dificultad en su diagnóstico por similitud con la enfermedad de Morquio. Neurologia
2007 ; 22 (2) : 126-9
Factor impacte: 0,828
Sánchez-Carpintero Abad R, Sanmartí FX, Serratosa Fernández JM
. Genetic causes of epilepsy. Neurologist 2007 ; 13 (sup 1) : S47-51
Factor impacte: 1,750
Sandberg D, Navarro R, Blanch J, Ragheb J. Anomalous venous drainage preventing safe
posterior fossa decompression in patients with Chiari malformation Type I and multisutural
craniosynostosis. J Neurosurg 2007 ; 106 (6 suppl Pediatrics) : 490-4
Factor impacte: 1,990
Sebastiani G, Simó M, Luaces C, Pineda M, García García JJ. Amnesia global transitoria: una
entidad infrecuente en la infancia. Acta Pediatr Esp 2007 ; 65 : 409-12
Sempere-Pérez A, Campistol J, García Cazorla A, Guillén A, Pérez N. Cavernomatosis múltiple
cerebral familiar. Rev Neurol 2007 ; 44 (11) : 657-60
Factor impacte: 0,736
Serrano M, Lizarraga I, Reiss J, Dias AP, Pérez Dueñas B, Vilaseca MA, Artuch R, Campistol J,
García Cazorla A. Cranial ultrasound and chronological changes in molybdenum cofactor
deficiency. Pediatr Radiol 2007 ; 37 (10) : 1043-6
Factor impacte: 0,991
Serrano M, Ormazábal A, Pérez Dueñas B, Artuch R, Coroleu W, Krauel J, Campistol J, García
Cazorla A. Perinatal asphyxia may cause reduction in CSF dopamine metabolite concentrations.
Neurology 2007 ; 69 (3) : 311-3
Factor impacte: 6,014
Solivera J, Navarro R, Costa JM. Orbital emphysema after endoscopic third ventriculostomy and
posterior fossa surgery in the sitting position. Childs Nerv Syst 2007 ; 23 (1) : 27-9
Factor impacte: 0,993
Trenchs V, Curcoy A, Navarro R, Pou J. Subdural haematomas and physical abuse in the first
two years of life. Pediatr Neurosurg 2007 ; 43 (5) : 352-7
Factor impacte: 0,836
Urreizti R, Asteggiano C, Vilaseca MA, Corbella E, Pinto Sala X, Grinberg Vaisman D, Balcells
Comas S. A CBS haplotype and a polymorphism at the MSR gene are associated with
cardiovascular disease in a Spanish case-control study. Clin Biochem 2007 ; 40 (12) : 864-8
Factor impacte: 2,072
Vera M, Navarro R, Esteban E, Costa JM. Association of atlanto-occipital dislocation and
retroclival haematoma in a child. Child's Nerv Syst 2007 ; 23 (8) : 913-6
Factor impacte: 0,993
Vilaseca MA, Artuch R, Bauzá FR, Pineda M, García A, Campistol J. Diagnóstico diferencial de la
hiperhomocisteinemia en pediatría. Quím Clín 2007 ; 26 (4) : 191-5
SUMATORI TORAL FI: 71,846