Detalhe da pesquisa
1.
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.
J Med Genet
; 61(5): 443-451, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458754
2.
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Mov Disord
; 39(3): 526-538, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38214203
3.
A comprehensive analysis of copy number variation in a Turkish dementia cohort.
Hum Genomics
; 15(1): 48, 2021 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321086
4.
Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.
BMC Neurol
; 22(1): 122, 2022 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346091
5.
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Ann Neurol
; 88(4): 843-850, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33045815
6.
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Genet Med
; 22(11): 1851-1862, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32713943
7.
Peripheral TREM2 mRNA levels in early and late-onset Alzheimer disease's patients.
Mol Biol Rep
; 47(8): 5903-5909, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681391
8.
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Am J Hum Genet
; 98(3): 500-513, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942284
9.
Association between selected cholesterol-related gene polymorphisms and Alzheimer's disease in a Turkish cohort.
Mol Biol Rep
; 46(2): 1701-1707, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30684189
10.
Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.
Neurodegener Dis
; 19(5-6): 218-224, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32349000
11.
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Am J Hum Genet
; 96(6): 938-47, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25983243
12.
HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype.
Mov Disord
; 33(8): 1354-1358, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30145809
13.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Brain
; 140(6): 1561-1578, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28459997
14.
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.
Hum Mol Genet
; 24(18): 5326-9, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26157024
15.
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Genet Med
; 23(10): 2021, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33353973
16.
Vitamin D deficiency might pose a greater risk for ApoEÉ4 non-carrier Alzheimer's disease patients.
Neurol Sci
; 37(10): 1633-43, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27357856
17.
Segregation of ATP10B variants in families with autosomal recessive parkinsonism.
Acta Neuropathol
; 140(5): 783-785, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32892229
18.
A new F-box protein 7 gene mutation causing typical Parkinson's disease.
Mov Disord
; 30(8): 1130-3, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26010069
19.
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Alzheimers Res Ther
; 16(1): 66, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38539243
20.
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.
Hum Mol Genet
; 20(1): 202-10, 2011 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20947659