Detalhe da pesquisa
1.
Cognitive impairment in children with CACNA1A mutations.
Dev Med Child Neurol
; 62(3): 330-337, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31115040
2.
Training of adult psychiatrists and child and adolescent psychiatrists in europe: a systematic review of training characteristics and transition from child/adolescent to adult mental health services.
BMC Med Educ
; 19(1): 204, 2019 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31196080
3.
Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.
Dev Med Child Neurol
; 60(12): 1256-1263, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29926469
4.
Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
J Neurol Neurosurg Psychiatry
; 86(7): 782-5, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25595153
5.
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.
J Neurol Neurosurg Psychiatry
; 86(10): 1060-5, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25476005
6.
Clinical phenotypes of infantile onset CACNA1A-related disorder.
Eur J Paediatr Neurol
; 30: 144-154, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33349592
7.
Are Psychiatrists Trained to Address the Mental Health Needs of Young People Transitioning From Child to Adult Services? Insights From a European Survey.
Front Psychiatry
; 12: 768206, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35222101
8.
FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.
Ann Clin Transl Neurol
; 7(4): 565-572, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32162847
9.
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Hum Mutat
; 30(6): 934-45, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19367636
10.
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.
Hum Mutat
; 28(2): 196-202, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17041910
11.
Partial epilepsy and 47,XXX karyotype: report of four cases.
Pediatr Neurol
; 35(1): 69-74, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16814091
12.
Ataxia with vitamin E deficiency and severe dystonia: report of a case.
Brain Dev
; 25(6): 442-5, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12907280
13.
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.
Eur J Hum Genet
; 20(10): 1096-100, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22510846
14.
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials.
Eur J Paediatr Neurol
; 16(2): 149-60, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21920787
15.
Interictal paroxysmal epileptic discharges during sleep in childhood: phenotypic variability in a family.
Epilepsia
; 44(6): 864-9, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12790904