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Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis.
Onal G, Yalçın-Çakmaklı G, Özçelik CE, Boussaad I, Şeker UÖŞ, Fernandes HJR, Demir H, Krüger R, Elibol B, Dökmeci S, Salman MM. Onal G, et al. Among authors: elibol b. J Neurochem. 2024 Apr 20. doi: 10.1111/jnc.16114. Online ahead of print. J Neurochem. 2024. PMID: 38641924
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
Fevga C, Tesson C, Carreras Mascaro A, Courtin T, van Coller R, Sakka S, Ferraro F, Farhat N, Bardien S, Damak M, Carr J, Ferrien M, Boumeester V, Hundscheid J, Grillenzoni N, Kessissoglou IA, Kuipers DJS, Quadri M; French and Mediterranean Parkinson disease Genetics Study Group; International Parkinsonism Genetics Network; Corvol JC, Mhiri C, Hassan BA, Breedveld GJ, Lesage S, Mandemakers W, Brice A, Bonifati V. Fevga C, et al. Brain. 2023 Apr 19;146(4):1496-1510. doi: 10.1093/brain/awac326. Brain. 2023. PMID: 36073231 Free PMC article.
Investigating the Blink Reflex Abnormality in Dry Eye Patients.
Yılmaz U, Tekin S, Elibol B, Yalçındağ Z. Yılmaz U, et al. Among authors: elibol b. Cureus. 2023 Nov 30;15(11):e49741. doi: 10.7759/cureus.49741. eCollection 2023 Nov. Cureus. 2023. PMID: 38161946 Free PMC article.
Disclosing the news of future risk of Parkinson's disease: What do patients think?
Yilmaz R, Dilek GR, Kayis G, Abali T, Yalçın-Çakmaklı G, Arda B, Elibol B, Akbostancı MC. Yilmaz R, et al. Among authors: elibol b. Parkinsonism Relat Disord. 2023 Nov;116:105895. doi: 10.1016/j.parkreldis.2023.105895. Epub 2023 Oct 10. Parkinsonism Relat Disord. 2023. PMID: 37856965 No abstract available.
Cockayne syndrome type 3 with dystonia-ataxia and clicking blinks.
Gültekin-Zaim ÖB, Yalçın-Çakmaklı G, Çolpak Aİ, Şimşek-Kiper PÖ, Utine GE, Elibol B. Gültekin-Zaim ÖB, et al. Among authors: elibol b. Mov Disord Clin Pract. 2023 Aug 24;10(Suppl 3):S48-S50. doi: 10.1002/mdc3.13778. eCollection 2023 Aug. Mov Disord Clin Pract. 2023. PMID: 37636235 Free PMC article. No abstract available.
100 results