Detalhe da pesquisa
1.
Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
Mov Disord
; 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38436103
2.
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Mol Psychiatry
; 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38030819
3.
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
Hum Genet
; 142(6): 773-783, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076692
4.
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Am J Hum Genet
; 106(4): 438-452, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197073
5.
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Hum Mutat
; 43(9): 1239-1248, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35446447
6.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Hum Mutat
; 43(12): 1882-1897, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842780
7.
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Hum Mutat
; 43(9): 1299-1313, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35607920
8.
Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.
Hum Mol Genet
; 29(5): 766-784, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31919497
9.
Highlighting the Dystonic Phenotype Related to GNAO1.
Mov Disord
; 37(7): 1547-1554, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722775
10.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med
; 23(11): 2150-2159, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345024
11.
Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.
Ann Neurol
; 88(5): 1028-1033, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32743835
12.
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.
Hum Mol Genet
; 27(2): 224-238, 2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29077851
13.
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Am J Hum Genet
; 101(3): 428-440, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28823707
14.
Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.
Mov Disord
; 35(5): 880-885, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31922365
15.
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.
Hum Mutat
; 40(11): 2021-2032, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31184401
16.
Mutation of SLC9A1, encoding the major Naâº/H⺠exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.
Hum Mol Genet
; 24(2): 463-70, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25205112
17.
Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism".
Ann Neurol
; 89(1): 195-196, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098324
18.
De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia.
Mov Disord
; 37(5): 1115-1117, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35587630
19.
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
BMC Med Genet
; 16: 36, 2015 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26068213
20.
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
Brain
; 137(Pt 2): 411-9, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24369382