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 | 14 | 2020 |
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 | 12 | 2021 |
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 | 11 | 2023 |
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 | 9 | 2021 |
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 | 4 | 2022 |
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 | 4 | 2021 |
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 | 4 | 2020 |
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 | 3 | 2022 |
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, ... | | |