Detalhe da pesquisa
1.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
J Med Genet
; 61(2): 103-108, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37879892
2.
Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.
Mol Psychiatry
; 28(4): 1527-1544, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36717740
3.
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Am J Med Genet A
; 191(7): 1722-1740, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987741
4.
Placebo effects in children with autism spectrum disorder.
Dev Med Child Neurol
; 65(10): 1316-1320, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36917698
5.
A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations.
Hum Mol Genet
; 27(12): 2138-2153, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659809
6.
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
Dev Med Child Neurol
; 61(12): 1439-1447, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31410843
7.
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
Am J Med Genet A
; 170(8): 2103-10, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27256868
8.
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).
Neurology
; 102(8): e209243, 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531017
9.
Simultaneous action execution and observation optimise grasping actions.
Exp Brain Res
; 227(3): 407-19, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23615976
10.
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis.
Orphanet J Rare Dis
; 15(1): 59, 2020 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32102670
11.
Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.
Eur J Paediatr Neurol
; 22(1): 82-92, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28947381
12.
Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping?
Neuroimage Clin
; 19: 454-465, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29984154
13.
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.
Nat Rev Drug Discov
; 17(4): 280-299, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29217836
14.
Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases.
J Pediatr
; 151(3): 299-306, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17719943
15.
Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.
Psychiatr Genet
; 27(3): 105-109, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28230711
16.
Certainty of genuine treatment increases drug responses among intellectually disabled patients.
Neurology
; 88(20): 1912-1918, 2017 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28424273
17.
A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients.
PLoS One
; 11(2): e0149717, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26918704
18.
[Problems posed by genetic diseases, concerning DNA instability disorders: fragile X syndrome]. / Problèmes posés par les maladies génétiques. 1re partie--A propos d'une maladie d'instabilité: le syndrome de l'X fragile.
Rev Prat
; 60(2): 243-4, 2010 Feb 20.
Artigo
em Francês
| MEDLINE | ID: mdl-20225567
19.
Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis.
PLoS One
; 10(7): e0133316, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26226597
20.
Neural correlates of non-verbal social interactions: a dual-EEG study.
Neuropsychologia
; 55: 85-97, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24157538