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Şeyma Tekgül
Şeyma Tekgül
Research Associate at Koç University
在 ku.edu.tr 的电子邮件经过验证
标题
引用次数
引用次数
年份
The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype
A Candayan, G Yunisova, A Çakar, H Durmuş, AN Başak, Y Parman, ...
neurogenetics 21, 73-78, 2020
142020
The complex genetic landscape of hereditary ataxias in Turkey and implications in clinical practice
A Vural, G Şimşir, Ş Tekgül, C Koçoğlu, F Akcimen, E Kartal, NE Şen, ...
Movement Disorders 36 (7), 1676-1688, 2021
122021
Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and …
D Pellerin, P Iruzubieta, Ş Tekgül, MC Danzi, C Ashton, MJ Dicaire, ...
Movement Disorders 38 (8), 1575-1577, 2023
112023
A novel pathogenic variant in the 3ʹ end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?
S Türay, R Eröz, AN Başak
neurogenetics 22 (2), 127-132, 2021
92021
Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder
A Çakar, M İnci, AN Özdağ Acarlı, S Çomu, A Candayan, E Battaloğlu, ...
Acta Neurologica Scandinavica 145 (5), 619-626, 2022
42022
Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood
T Sahin, FT Karaarslan, R Yilmaz, Ş Tekgül, AN Başak, MC Akbostanci
Clinical Neurology and Neurosurgery 201, 106423, 2021
42021
Ataxia telangiectasia like disorder: Another dopa-responsive disorder look-alike?
MH Ser, Ş Tekgül, A Gündüz, ME Kızıltan, G Kızıltan, AN Başak
Parkinsonism & related disorders 74, 22-24, 2020
42020
VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population
Ö Öztop-Çakmak, G Şimşir, Ş Tekgül, MS Aygün, O Gökler, B Kahyaoğlu, ...
Revue Neurologique 178 (9), 907-913, 2022
32022
Successful infliximab treatment in siblings with Netherton syndrome: Unveiling a novel SPINK5 gene variant and literature review
NS Salici, A Ozcanli, G Rasulova, AN Basak, S Tekgul, S Vural
Australasian Journal of Dermatology 65 (3), e45-e49, 2024
2024
Adult-Onset Treatable Leukodystrophy: Cerebrotendinous Xanthomatosis
GB Şenel, H Abbaszade, Ş Tekgül, N Başak, H Apaydın
Neuropsychiatric Investigation 60 (4), 2022
2022
The Molecular Architecture of Ataxias in Turkey
Ş Tekgül
Koç University, 2022
2022
The molecular analysis of ataxias in a Turkish cohort
Ş Tekgül
2021
Molecular Complexity of Spastic Ataxias and Hereditary Spastic Paraplegias in Turkey
G Simsir, S Tekgul, H Apaydin, S Ertan, A Basak
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 893-894, 2020
2020
The Complex Molecular Basis of Dystonias in a Turkish Cohort
S Tekgul, G Simsir, Z Yapici, A Basak
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 881-881, 2020
2020
Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family.
GB ŞENEL, D TEZEN, Ş TEKGÜL, AN BAŞAK, H APAYDIN
Türkiye Klinikleri Journal of Case Reports 28 (4), 2020
2020
Late-Onset Dopa-Responsive Dystonia: A Case Report
OO Cakmak, S Ertan, S Tekgul, N Basak
MOVEMENT DISORDERS 35, S55-S56, 2020
2020
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice
P Oflazer, H Hanagasi, B Bilgic, M Eraksoy, A GÜNDÜZ, O Us, SG Kurt, ...
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