Detalhe da pesquisa
1.
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Am J Hum Genet
; 111(4): 761-777, 2024 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38503299
2.
Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy.
Hum Genet
; 143(5): 667-681, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38578438
3.
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Genet Med
; 26(5): 101097, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38334070
4.
Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.
Mov Disord
; 39(2): 400-410, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38314870
5.
Classic "PCH" Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia.
Cerebellum
; 23(2): 418-430, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-36971923
6.
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).
J Med Genet
; 60(6): 523-532, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36822643
7.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Hum Genet
; 142(7): 909-925, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37183190
8.
Analysis of the microglia transcriptome across the human lifespan using single cell RNA sequencing.
J Neuroinflammation
; 20(1): 132, 2023 May 30.
Artigo
Inglês
| MEDLINE | ID: mdl-37254100
9.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Genet Med
; 25(1): 90-102, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36318270
10.
Human Oligodendrocyte Myelination Potential; Relation to Age and Differentiation.
Ann Neurol
; 91(2): 178-191, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34952986
11.
An in-frame deletion affecting the critical acid loop of PPP2R5D is associated with a neonatal lethal form of PPP2R5D-related neurodevelopmental disorder.
Am J Med Genet A
; 191(9): 2416-2421, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37248744
12.
Diverse injury responses of human oligodendrocyte to mediators implicated in multiple sclerosis.
Brain
; 145(12): 4320-4333, 2022 12 19.
Artigo
Inglês
| MEDLINE | ID: mdl-35202462
13.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34382076
14.
Regional and age-related diversity of human mature oligodendrocytes.
Glia
; 70(10): 1938-1949, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35735919
15.
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Am J Hum Genet
; 105(4): 854-868, 2019 10 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31585109
16.
Antenatal corticosteroid administration and attention-deficit/hyperactivity disorder in childhood: a regression discontinuity study.
CMAJ
; 194(7): E235-E241, 2022 02 22.
Artigo
Inglês
| MEDLINE | ID: mdl-35193860
17.
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts.
Neuroradiology
; 64(11): 2163-2177, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-35670822
18.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Genet Med
; 23(5): 881-887, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33473207
19.
Diagnostic Approach to Cerebellar Hypoplasia.
Cerebellum
; 20(4): 631-658, 2021 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-33534089
20.
Developmental trajectory of oligodendrocyte progenitor cells in the human brain revealed by single cell RNA sequencing.
Glia
; 68(6): 1291-1303, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31958186