Detalhe da pesquisa
1.
Calpains as novel players in the molecular pathogenesis of spinocerebellar ataxia type 17.
Cell Mol Life Sci
; 79(5): 262, 2022 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35482253
2.
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.
Int J Mol Sci
; 24(19)2023 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37834164
3.
Identification of Drug Resistance Determinants in a Clinical Isolate of Pseudomonas aeruginosa by High-Density Transposon Mutagenesis.
Antimicrob Agents Chemother
; 64(3)2020 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31818817
4.
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
Nat Genet
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38684900
5.
Whole genome analysis of two sympatric human Mansonella: Mansonella perstans and Mansonella sp "DEUX".
Front Cell Infect Microbiol
; 13: 1159814, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37124042
6.
Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.
NPJ Parkinsons Dis
; 9(1): 156, 2023 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37996455
7.
Limited reciprocal surrogacy of bird and habitat diversity and inconsistencies in their representation in Romanian protected areas.
PLoS One
; 17(2): e0251950, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148309
8.
Tracking of Antibiotic Resistance Transfer and Rapid Plasmid Evolution in a Hospital Setting by Nanopore Sequencing.
mSphere
; 5(4)2020 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817379
9.
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.
NPJ Genom Med
; 9(1): 28, 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38704370
10.
Author Correction: Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.
NPJ Parkinsons Dis
; 9(1): 168, 2023 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38110362
11.
Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1.
Parkinsonism Relat Disord
; 95: 54-56, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35030450