Detalhe da pesquisa
1.
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.
Nat Rev Genet
; 24(9): 642-658, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37024676
2.
Rare-variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome.
Genet Med
; 26(1): 100967, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37638500
3.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Brain
; 146(12): 5060-5069, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37450567
4.
Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.
Cerebellum
; 21(1): 49-54, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33956305
5.
Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project.
Mov Disord
; 36(2): 514-518, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159825
6.
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
Mov Disord
; 36(7): 1664-1675, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33598982
7.
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Mov Disord
; 36(7): 1676-1688, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33624863
8.
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
Hum Mutat
; 41(8): e7-e45, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32579787
9.
Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor.
Mov Disord
; 35(7): 1153-1162, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32249994
10.
A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID.
J Hum Genet
; 64(11): 1141-1144, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31420593
11.
Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.
Hum Genomics
; 11(1): 30, 2017 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29216901
12.
Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor.
Brain
; 143(11): e89, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33146671
13.
Genome sequence analyses identify novel risk loci for multiple system atrophy.
Neuron
; 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701790
14.
A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy.
J Neurol Neurosurg Psychiatry
; 89(10): 1123-1125, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29269506
15.
Genomic analysis identifies risk factors in restless legs syndrome.
medRxiv
; 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168192
16.
Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette's syndrome.
Commun Biol
; 5(1): 289, 2022 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35354918
17.
Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis.
Neurol Genet
; 8(4): e678, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35923349
18.
Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis.
JAMA Neurol
; 79(2): 185-193, 2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34982113
19.
SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome.
Eur J Hum Genet
; 28(11): 1520-1528, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32572201
20.
Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes.
Commun Biol
; 3(1): 373, 2020 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651461