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.
Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.
Mol Genet Metab
; 142(2): 108493, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772327
3.
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Ann Neurol
; 94(3): 470-485, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243847
4.
Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Cerebellum
; 2023 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37955812
5.
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
6.
Anticholinergic Burden, Polypharmacy, and Cognition in Parkinson's Disease Patients with Mild Cognitive Impairment: A Cross-Sectional Observational Study.
Dement Geriatr Cogn Disord
; 51(5): 386-395, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273437
7.
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
8.
Does transcranial direct current stimulation enhance cognitive performance in Parkinson's disease mild cognitive impairment? An event-related potentials and neuropsychological assessment study.
Neurol Sci
; 43(6): 4029-4044, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322340
9.
Identification of metabolic correlates of mild cognitive impairment in Parkinson's disease using magnetic resonance spectroscopic imaging and machine learning.
MAGMA
; 35(6): 997-1008, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35867235
10.
Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease.
Int J Neurosci
; 132(5): 439-449, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32938288
11.
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
12.
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
13.
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Mov Disord
; 36(7): 1676-1688, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33624863
14.
TREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features.
Eur J Neurol
; 28(8): 2603-2613, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33969597
15.
A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Neurol Sci
; 42(7): 2969-2973, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559790
16.
Neurological features and outcomes of Wilson's disease: a single-center experience.
Neurol Sci
; 42(9): 3829-3834, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33474589
17.
A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease.
Neurol Sci
; 42(6): 2497-2504, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33855622
18.
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
19.
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
20.
Cognition of the mothers of patients with Duchenne muscular dystrophy.
Muscle Nerve
; 62(6): 710-716, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32893363