Detalhe da pesquisa
1.
New insights into CC2D2A-related Joubert syndrome.
J Med Genet
; 60(6): 578-586, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36319078
2.
Psychomotor development in infants and young children with Down syndrome-A prospective, repeated measure, post-hoc analysis.
Am J Med Genet A
; 188(3): 818-827, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863019
3.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150406
4.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Hum Mutat
; 41(1): 69-80, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31513310
5.
Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.
Genet Med
; 22(1): 44-52, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31281181
6.
Mitochondrial dysfunction caused by novel ATAD3A mutations.
Mol Genet Metab
; 131(1-2): 107-113, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32933822
7.
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Epilepsia
; 61(11): 2461-2473, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32954514
8.
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
Acta Neuropathol
; 138(6): 885-900, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31444548
9.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Hum Genet
; 137(9): 753-768, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167850
10.
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
J Med Genet
; 54(12): 843-851, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28954837
11.
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Am J Med Genet A
; 170(12): 3069-3082, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27648933
12.
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
Hum Mutat
; 35(3): 356-67, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375629
13.
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
Hum Mutat
; 35(4): 462-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24415674
14.
Paediatric intracranial dural arteriovenous shunts: types, clinical presentation and therapeutic management.
Brain Commun
; 4(2): fcac043, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35243346
15.
KCNJ10 mutations disrupt function in patients with EAST syndrome.
Nephron Physiol
; 119(3): p40-8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21849804
16.
Endovascular management of torcular dural sinus malformations in children: the role of straight sinus occlusion.
J Neurointerv Surg
; 13(3): 278-283, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33199540
17.
Focal polymicrogyria in children: Contribution of invasive explorations and epileptogenicity mapping in the surgical decision.
Seizure
; 86: 19-28, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33517238
18.
Reading Comprehension Impairment in Children With Neurofibromatosis Type 1 (NF1): The Need of Multimodal Assessment of Attention.
J Child Neurol
; 36(8): 625-634, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33507832
19.
Tremor-like subcortical myoclonus in STXBP1 encephalopathy.
Eur J Paediatr Neurol
; 34: 62-66, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34392114
20.
Multiple cranial nerve neuropathies, microcephaly, neurological degeneration, and "fork and bracket sign" in the MRI: a distinct syndrome.
Am J Med Genet A
; 152A(9): 2297-300, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20658556