Detalhe da pesquisa
1.
Whole-brain structural connectivity in dyskinetic cerebral palsy and its association with motor and cognitive function.
Hum Brain Mapp
; 38(9): 4594-4612, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28608616
2.
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Hum Genet
; 134(1): 123-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25407461
3.
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Hum Mutat
; 34(5): 686-96, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23420520
4.
Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphism in the BDNF gene play a role?
Epilepsy Behav
; 22(3): 581-3, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21890420
5.
[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene]. / Deficiencia cerebral de creatina: primeros pacientes españoles con mutaciones en el gen GAMT.
Med Clin (Barc)
; 133(19): 745-9, 2009 Nov 21.
Artigo
em Espanhol
| MEDLINE | ID: mdl-19892372
6.
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.
Parkinsonism Relat Disord
; 61: 179-186, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30340910
7.
Cognitive functioning in dyskinetic cerebral palsy: Its relation to motor function, communication and epilepsy.
Eur J Paediatr Neurol
; 22(1): 102-112, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29108712
8.
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
Clin Biochem
; 40(16-17): 1328-31, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17825809
9.
White matter integrity in dyskinetic cerebral palsy: Relationship with intelligence quotient and executive function.
Neuroimage Clin
; 15: 789-800, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28702354
10.
Measuring intellectual ability in cerebral palsy: The comparison of three tests and their neuroimaging correlates.
Res Dev Disabil
; 56: 83-98, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27262445
11.
[Drooling therapy in children with neurological disorders]. / Tratamiento de la sialorrea en niños con patología neurológica.
Rev Neurol
; 61(2): 66-70, 2015 Jul 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-26156441
12.
Epilepsy spectrum in cerebral creatine transporter deficiency.
Epilepsia
; 50(9): 2168-70, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19706062
13.
[Diploid/triploid mosaicism: a variable but characteristic phenotype]. / Mosaicismo diploide/triploide: un fenotipo variable, pero característico.
Rev Neurol
; 59(4): 158-63, 2014 Aug 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-25059266
14.
A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease.
J Neurol Sci
; 397: 135-137, 2019 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30616056
15.
Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.
Clin Rheumatol
; 31(11): 1611-5, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22903700
16.
Impact of histological chorioamnionitis, funisitis and clinical chorioamnionitis on neurodevelopmental outcome of preterm infants.
Early Hum Dev
; 87(4): 253-7, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21354722
17.
18.
Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature.
Clin Dysmorphol
; 24(1): 38-43, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25380321
19.
Syndrome of fixed dystonia in adolescents--short term outcome in 4 cases.
Eur J Paediatr Neurol
; 13(5): 466-72, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18996036
20.
Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I.
Pediatr Neurol
; 40(6): 426-31, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19433275