Detalhe da pesquisa
1.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Am J Hum Genet
; 110(1): 105-119, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36493768
2.
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.
Cerebellum
; 23(2): 391-400, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869969
3.
multiWGCNA: an R package for deep mining gene co-expression networks in multi-trait expression data.
BMC Bioinformatics
; 24(1): 115, 2023 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36964502
4.
miR-142-3p regulates cortical oligodendrocyte gene co-expression networks associated with tauopathy.
Hum Mol Genet
; 30(1): 103-118, 2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33555315
5.
Late-onset hereditary ataxias with dementia.
Curr Opin Neurol
; 36(4): 324-334, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37382141
6.
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.
BMC Neurol
; 23(1): 305, 2023 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37592248
7.
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Am J Hum Genet
; 105(1): 151-165, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230722
8.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Am J Hum Genet
; 110(6): 1018, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37267898
9.
α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy.
Acta Neuropathol
; 142(3): 495-511, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991233
10.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150406
11.
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Hum Mutat
; 41(2): 487-501, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31692161
12.
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Genet Med
; 22(3): 490-499, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607746
13.
Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the SPG7 gene.
Neurocase
; 26(5): 299-304, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32893728
14.
Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2).
Cerebellum
; 18(3): 448-456, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30778901
15.
ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism.
Hum Mol Genet
; 25(12): 2451-2464, 2016 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27260404
16.
A new model to study neurodegeneration in ataxia oculomotor apraxia type 2.
Hum Mol Genet
; 24(20): 5759-74, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26231220
17.
Whole exome sequencing in patients with white matter abnormalities.
Ann Neurol
; 79(6): 1031-1037, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159321
18.
Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective.
Mov Disord
; 37(6): 1125-1130, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35475582
19.
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.
Hum Mol Genet
; 23(18): 4758-69, 2014 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24760770
20.
Correction to: α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy.
Acta Neuropathol
; 142(3): 513, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34028589