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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: massie r. 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.
Polymerase gamma 1 mutations: clinical correlations.
Milone M, Massie R. Milone M, et al. Among authors: massie r. Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89. Neurologist. 2010. PMID: 20220442 Review.
Canadian Cardiovascular Society/Canadian Heart Failure Society Joint Position Statement on the Evaluation and Management of Patients With Cardiac Amyloidosis.
Fine NM, Davis MK, Anderson K, Delgado DH, Giraldeau G, Kitchlu A, Massie R, Narayan J, Swiggum E, Venner CP, Ducharme A, Galant NJ, Hahn C, Howlett JG, Mielniczuk L, Parent MC, Reece D, Royal V, Toma M, Virani SA, Zieroth S. Fine NM, et al. Among authors: massie r. Can J Cardiol. 2020 Mar;36(3):322-334. doi: 10.1016/j.cjca.2019.12.034. Can J Cardiol. 2020. PMID: 32145862
95 results