Detalhe da pesquisa
1.
α-Synuclein Pathology in PRKN-Linked Parkinson's Disease: New Insights from a Blood-Based Seed Amplification Assay.
Ann Neurol;
95(6): 1173-1177, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38546204
2.
The genetic structure of the Turkish population reveals high levels of variation and admixture.
Proc Natl Acad Sci U S A;
118(36)2021 09 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34426522
3.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Mov Disord;
37(6): 1175-1186, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35150594
4.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain;
144(3): 769-780, 2021 04 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33764426
5.
A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?
Neurogenetics;
22(2): 127-132, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33909173
6.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Ann Neurol;
88(2): 251-263, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32337771
7.
Early-Onset Parkinson's Disease: A Novel Deletion Comprising the DJ-1 and TNFRSF9 Genes.
Mov Disord;
36(12): 2973-2976, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34605055
8.
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Eur J Neurol;
28(4): 1344-1355, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33220101
9.
A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.
Neurol Sci;
42(4): 1535-1539, 2021 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33210227
10.
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
Hum Mutat;
41(8): e7-e45, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32579787
11.
The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype.
Neurogenetics;
21(1): 73-78, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31673878
12.
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family.
Neurogenetics;
21(1): 51-58, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31741143
13.
Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes.
Brain;
145(10): e95-e98, 2022 10 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35792670
14.
Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2.
Neurodegener Dis;
18(1): 38-48, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29428949
15.
Impact of Genetic Defects on Coronary Atherosclerosis among Turkish Cypriots.
Heart Surg Forum;
20(5): E223-E229, 2017 10 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29087287
16.
Search for SCA2 blood RNA biomarkers highlights Ataxin-2 as strong modifier of the mitochondrial factor PINK1 levels.
Neurobiol Dis;
96: 115-126, 2016 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27597528
17.
The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) ß(0) -thalassaemia homozygotes.
Br J Haematol;
172(6): 958-65, 2016 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26771086
18.
Reply to letter to the editor by De Michele et al.
Neurogenetics;
21(2): 147, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32026234
19.
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
Brain;
142(2): e4, 2019 02 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30649222
20.
The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndrome.
Neurogenetics;
15(3): 189-92, 2014 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24863655