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Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. Pellerin D, et al. Among authors: jaunmuktane z. N Engl J Med. 2023 Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14. N Engl J Med. 2023. PMID: 36516086 Free PMC article.
Diverse imaging features of adolescent glioblastoma.
Campion T, Stoneham S, Al-Busaidi A, Kumar A, Jaunmuktane Z, Brandner S, Kitchen N, Thust S. Campion T, et al. Among authors: jaunmuktane z. BJR Case Rep. 2021 Dec 17;8(2):20210207. doi: 10.1259/bjrcr.20210207. eCollection 2022 Mar 10. BJR Case Rep. 2021. PMID: 36177265 Free PMC article.
Brain region-specific susceptibility of Lewy body pathology in synucleinopathies is governed by α-synuclein conformations.
de Boni L, Watson AH, Zaccagnini L, Wallis A, Zhelcheska K, Kim N, Sanderson J, Jiang H, Martin E, Cantlon A, Rovere M, Liu L, Sylvester M, Lashley T, Dettmer U, Jaunmuktane Z, Bartels T. de Boni L, et al. Among authors: jaunmuktane z. Acta Neuropathol. 2022 Apr;143(4):453-469. doi: 10.1007/s00401-022-02406-7. Epub 2022 Feb 9. Acta Neuropathol. 2022. PMID: 35141810 Free PMC article.
Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.
Kulshrestha R, Burton-Jones S, Antoniadi T, Rogers M, Jaunmuktane Z, Brandner S, Kiely N, Manuel R, Willis T. Kulshrestha R, et al. Among authors: jaunmuktane z. Neuromuscul Disord. 2017 Aug;27(8):766-770. doi: 10.1016/j.nmd.2017.05.001. Epub 2017 May 4. Neuromuscul Disord. 2017. PMID: 28601552
142 results