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Four Turkish families with hyperekplexia: A missense mutation and the exon 1-7 deletion in the GLRA1 gene.
Parkinsonism Relat Disord. 2022 Dec;105:128-131. doi: 10.1016/j.parkreldis.2022.11.011. Epub 2022 Nov 15.
Parkinsonism Relat Disord. 2022.
PMID: 36434917
VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population.
Öztop-Çakmak Ö, Şimşir G, Tekgül Ş, Aygün MS, Gökler O, Kahyaoğlu B, Kaya ZE, Palvadeau R, Başak AN, Ertan S.
Öztop-Çakmak Ö, et al. Among authors: simsir g.
Rev Neurol (Paris). 2022 Nov;178(9):907-913. doi: 10.1016/j.neurol.2022.05.005. Epub 2022 Sep 22.
Rev Neurol (Paris). 2022.
PMID: 36156252
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Ocular findings of oculomotor apraxia/ataxia type 1.
Sonmez HK, Gulmez Sevim D, Gultekin M, Simsir G, Basak AN.
Sonmez HK, et al. Among authors: simsir g.
Can J Ophthalmol. 2023 Feb;58(1):e44-e46. doi: 10.1016/j.jcjo.2022.06.006. Epub 2022 Jul 7.
Can J Ophthalmol. 2023.
PMID: 35809623
No abstract available.
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Varied phenotypic spectrum presenting of paroxysmal exercise-induced dyskinesia: a Turkish family with SLC2A1 mutation.
Gultekin M, Dogan ME, Simsir G, Basak AN.
Gultekin M, et al. Among authors: simsir g.
Neurol Sci. 2021 Nov;42(11):4751-4754. doi: 10.1007/s10072-021-05466-x. Epub 2021 Jul 19.
Neurol Sci. 2021.
PMID: 34279792
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The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Vural A, Şimşir G, Tekgül Ş, Koçoğlu C, Akçimen F, Kartal E, Şen NE, Lahut S, Ömür Ö, Saner N, Gül T, Bayraktar E, Palvadeau R, Tunca C, Pirkevi Çetinkaya C, Gündoğdu Eken A, Şahbaz I, Kovancılar Koç M, Öztop Çakmak Ö, Hanağası H, Bilgiç B, Eraksoy M, Gündüz A, Apaydın H, Kızıltan G, Özekmekçi S, Siva A, Altıntaş A, Kaya Güleç ZE, Parman Y, Oflazer P, Deymeer F, Durmuş H, Şahin E, Çakar A, Tüfekçioğlu Z, Tektürk P, Çorbalı MO, Tireli H, Akdal G, Yiş U, Hız S, Şengün İ, Bora E, Serdaroğlu G, Erer Özbek S, Ağan K, İnce Günal D, Us Ö, Kurt SG, Aksoy D, Bora Tokçaer A, Elmas M, Gültekin M, Kumandaş S, Acer H, Kaya Özçora GD, Yayla V, Soysal A, Genç G, Güllüoğlu H, Kotan D, Özözen Ayas Z, Şahin HA, Tan E, Topçu M, Topçuoğlu ES, Akbostancı C, Koç F, Ertan S, Elibol B, Başak AN.
Vural A, et al. Among authors: simsir g.
Mov Disord. 2021 Jul;36(7):1676-1688. doi: 10.1002/mds.28518. Epub 2021 Feb 24.
Mov Disord. 2021.
PMID: 33624863
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A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.
Emekli AS, Samanci B, Şimşir G, Hanagasi HA, Gürvit H, Bilgiç B, Başak AN.
Emekli AS, et al. Among authors: simsir g.
Neurol Sci. 2021 Apr;42(4):1535-1539. doi: 10.1007/s10072-020-04869-6. Epub 2020 Nov 18.
Neurol Sci. 2021.
PMID: 33210227
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Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family.
Palvadeau R, Kaya-Güleç ZE, Şimşir G, Vural A, Öztop-Çakmak Ö, Genç G, Aygün MS, Falay O, Başak AN, Ertan S.
Palvadeau R, et al. Among authors: simsir g.
Neurogenetics. 2020 Jan;21(1):51-58. doi: 10.1007/s10048-019-00595-0. Epub 2019 Nov 19.
Neurogenetics. 2020.
PMID: 31741143
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