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RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Periñan MT, Amouri R, Ben Sassi S, Hentati F; Global Parkinson's Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: samanci b. Lancet Neurol. 2024 Jun;23(6):603-614. doi: 10.1016/S1474-4422(24)00121-2. Epub 2024 Apr 10. Lancet Neurol. 2024. PMID: 38614108 Free article.
Pallidal Deep Brain Stimulation Improves HPCA-Linked (DYT 2) Dystonia.
Samanci B, Şahin E, Samanci Y, Bilgiç B, Atasu B, Lohmann E, Peker S, Hanağası HA. Samanci B, et al. Mov Disord Clin Pract. 2024 Feb;11(2):184-187. doi: 10.1002/mdc3.13947. Epub 2023 Dec 20. Mov Disord Clin Pract. 2024. PMID: 38386491 No abstract available.
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.
Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Tocino T, Amouri R, Sassi SB, Hentati F; Global Parkinson’s Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: samanci b. medRxiv [Preprint]. 2024 Jan 18:2024.01.17.24300927. doi: 10.1101/2024.01.17.24300927. medRxiv. 2024. PMID: 38293014 Free PMC article. Preprint.
Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Ilg W, Milne S, Schmitz-Hübsch T, Alcock L, Beichert L, Bertini E, Mohamed Ibrahim N, Dawes H, Gomez CM, Hanagasi H, Kinnunen KM, Minnerop M, Németh AH, Newman J, Ng YS, Rentz C, Samanci B, Shah VV, Summa S, Vasco G, McNames J, Horak FB; Ataxia Global Initiative (AGI) working group Digital Motor Biomarkers. Ilg W, et al. Among authors: samanci b. Cerebellum. 2023 Nov 13. doi: 10.1007/s12311-023-01625-2. Online ahead of print. Cerebellum. 2023. PMID: 37955812 Review.
Disconnection Syndromes.
Gürvit H, Samancı BM. Gürvit H, et al. Among authors: samanci bm. Noro Psikiyatr Ars. 2022 Dec 16;59(Suppl 1):S42-S49. doi: 10.29399/npa.28190. eCollection 2022. Noro Psikiyatr Ars. 2022. PMID: 36578992 Free PMC article. Review.
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