Detalhe da pesquisa
1.
Stability of Mosaic Divergent Repeat Interruptions in X-Linked Dystonia-Parkinsonism.
Mov Disord
; 2024 Apr 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38616406
2.
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
Cerebellum
; 23(2): 479-488, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37085601
3.
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
Brain
; 146(3): 1075-1082, 2023 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35481544
4.
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.
Brain
; 146(7): 2753-2765, 2023 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36478228
5.
GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.
BMC Genomics
; 24(1): 322, 2023 Jun 13.
Artigo
Inglês
| MEDLINE | ID: mdl-37312046
6.
Interaction of Mitochondrial Polygenic Score and Lifestyle Factors in LRRK2 p.Gly2019Ser Parkinsonism.
Mov Disord
; 38(10): 1837-1849, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37482924
7.
Improving analysis of the vaginal microbiota of women undergoing assisted reproduction using nanopore sequencing.
J Assist Reprod Genet
; 39(11): 2659-2667, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-36223010
8.
Age at Onset of LRRK2 p.Gly2019Ser Is Related to Environmental and Lifestyle Factors.
Mov Disord
; 35(10): 1854-1858, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32875616
9.
Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family.
Mov Disord
; 38(6): 1107-1109, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37246629
10.
Lifestyle factors and clinical severity of Parkinson's disease.
Sci Rep
; 13(1): 9537, 2023 06 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37308498
11.
The combined effect of lifestyle factors and polygenic scores on age at onset in Parkinson's disease.
medRxiv
; 2023 Aug 25.
Artigo
Inglês
| MEDLINE | ID: mdl-37662355
12.
Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA.
Front Genet
; 13: 887644, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35664331
13.
Coffee, smoking and aspirin are associated with age at onset in idiopathic Parkinson's disease.
J Neurol
; 269(8): 4195-4203, 2022 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-35235000
14.
Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
Genes (Basel)
; 13(1)2022 01 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35052466
15.
Nanopore Single-Molecule Sequencing for Mitochondrial DNA Methylation Analysis: Investigating Parkin-Associated Parkinsonism as a Proof of Concept.
Front Aging Neurosci
; 13: 713084, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34650424
16.
Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing.
Neurol Genet
; 7(4): e608, 2021 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-34250228