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Page 1
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.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Among authors: jaunmuktane z. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Single-cell somatic copy number variants in brain using different amplification methods and reference genomes.
Kalef-Ezra E, Turan ZG, Perez-Rodriguez D, Bomann I, Behera S, Morley C, Scholz SW, Jaunmuktane Z, Demeulemeester J, Sedlazeck FJ, Proukakis C. Kalef-Ezra E, et al. Among authors: jaunmuktane z. bioRxiv [Preprint]. 2023 Nov 21:2023.08.07.552289. doi: 10.1101/2023.08.07.552289. bioRxiv. 2023. Update in: Commun Biol. 2024 Oct 9;7(1):1288. doi: 10.1038/s42003-024-06940-w PMID: 37609320 Free PMC article. Updated. Preprint.
Disease-related patterns of in vivo pathology in Corticobasal syndrome.
Niccolini F, Wilson H, Hirschbichler S, Yousaf T, Pagano G, Whittington A, Caminiti SP, Erro R, Holton JL, Jaunmuktane Z, Esposito M, Martino D, Abdul A, Passchier J, Rabiner EA, Gunn RN, Bhatia KP, Politis M; Alzheimer’s Disease Neuroimaging Initiative. Niccolini F, et al. Among authors: jaunmuktane z. Eur J Nucl Med Mol Imaging. 2018 Dec;45(13):2413-2425. doi: 10.1007/s00259-018-4104-2. Epub 2018 Aug 8. Eur J Nucl Med Mol Imaging. 2018. PMID: 30090966 Free PMC article.
Leprosy in a patient infected with HIV.
Galtrey CM, Modarres H, Jaunmuktane Z, Brandner S, Rossor AM, Lockwood DN, Reilly MM, Manji H, Schon F. Galtrey CM, et al. Among authors: jaunmuktane z. Pract Neurol. 2017 Apr;17(2):135-139. doi: 10.1136/practneurol-2016-001519. Epub 2016 Dec 9. Pract Neurol. 2017. PMID: 27941127
A diagnostic conundrum.
Keddie S, Jaunmuktane Z, Brandner S, Shah S, Maddison P, Rees JH, Hanna MG, Lunn MPT, Reilly MM, Rossor AM, Carr AS. Keddie S, et al. Among authors: jaunmuktane z. Pract Neurol. 2018 Apr;18(2):137-142. doi: 10.1136/practneurol-2017-001801. Epub 2018 Jan 23. Pract Neurol. 2018. PMID: 29363556 Free PMC article.
158 results