Detalhe da pesquisa
1.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368327
2.
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Hum Mol Genet
; 31(21): 3729-3740, 2022 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35652444
3.
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
Genet Med
; 24(12): 2487-2500, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36136088
4.
GCH1 mutations in hereditary spastic paraplegia.
Clin Genet
; 100(1): 51-58, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33713342
5.
Lack of Causal Effects or Genetic Correlation between Restless Legs Syndrome and Parkinson's Disease.
Mov Disord
; 36(8): 1967-1972, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974305
6.
Analysis of Heterozygous PRKN Variants and Copy-Number Variations in Parkinson's Disease.
Mov Disord
; 36(1): 178-187, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32970363
7.
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
Mov Disord
; 36(7): 1664-1675, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33598982
8.
Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec.
Can J Neurol Sci
; 48(5): 655-665, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33397523
9.
Evaluation of DNA methylation status of toll-like receptors 2 and 4 promoters in Behcet's disease.
J Gene Med
; 22(10): e3234, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32449979
10.
Assessing non-Mendelian inheritance in inherited axonopathies.
Genet Med
; 22(12): 2114-2119, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32741968
11.
SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.
J Hum Genet
; 64(11): 1145-1151, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31515523
12.
Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.
Ann Neurol
; 91(5): 730-732, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34825409
13.
Expression Analysis of MicroRNA-222 in Breast Cancer.
Clin Lab
; 64(4): 491-496, 2018 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29739090
14.
Analysis of miRNA-221 Expression Level in Tumors and Marginal Biopsies from Patients with Breast Cancer (Cross-Sectional Observational Study).
Clin Lab
; 64(1): 169-175, 2018 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29479893
15.
The molecular signature of breast cancer metastasis to bone.
Anticancer Drugs
; 27(9): 824-31, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27384592
16.
Analysis of the Association between MDM4 rs4245739 Single Nucleotide Polymorphism and Breast Cancer Susceptibility.
Clin Lab
; 62(7): 1303-1308, 2016 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28164646
17.
Genetic, structural and clinical analysis of spastic paraplegia 4.
Parkinsonism Relat Disord
; 98: 62-69, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35487127
18.
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
Nat Commun
; 13(1): 7496, 2022 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36470867
19.
Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder.
J Parkinsons Dis
; 12(1): 333-340, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34690151
20.
Assessment of the role of non-coding RNAs in the pathophysiology of Parkinson's disease.
Eur J Pharmacol
; 896: 173914, 2021 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508286