Detalhe da pesquisa
1.
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Ann Neurol
; 93(2): 330-335, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36333996
2.
Epigenetic Association Analyses and Risk Prediction of RLS.
Mov Disord
; 38(8): 1410-1418, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37212434
3.
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Mov Disord
; 38(10): 1914-1924, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37485550
4.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(1): 139-156, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595372
5.
Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders.
Mov Disord
; 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38516945
6.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(2): 357, 2019 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30735662
7.
Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity.
EBioMedicine
; 101: 105007, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38354534
8.
Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction.
Nat Genet
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38839884
9.
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis.
Cell Rep
; 26(13): 3484-3492.e4, 2019 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30917305
10.
A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article "BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020)."
Eur J Med Genet
; 65(11): 104635, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36202297