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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: genis d. 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.
Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients.
Alemany-Perna B, Tamarit J, Cabiscol E, Delaspre F, Miguela A, Huertas-Pons JM, Quiroga-Varela A, Merchan Ruiz M, López Domínguez D, Ramió I Torrentà L, Genís D, Ros J. Alemany-Perna B, et al. Among authors: genis d. Mov Disord. 2024 May 2. doi: 10.1002/mds.29808. Online ahead of print. Mov Disord. 2024. PMID: 38696306
Copathology in Progressive Supranuclear Palsy: Does It Matter?
Jecmenica Lukic M, Kurz C, Respondek G, Grau-Rivera O, Compta Y, Gelpi E, Troakes C; Barcelona Brain Bank collaborative group, the MDS-endorsed PSP study group; van Swieten JC, Giese A, Roeber S, Arzberger T, Höglinger G. Jecmenica Lukic M, et al. Mov Disord. 2020 Jun;35(6):984-993. doi: 10.1002/mds.28011. Epub 2020 Mar 3. Mov Disord. 2020. PMID: 32125724
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).
Genis D, Ortega-Cubero S, San Nicolás H, Corral J, Gardenyes J, de Jorge L, López E, Campos B, Lorenzo E, Tonda R, Beltran S, Negre M, Obón M, Beltran B, Fàbregas L, Alemany B, Márquez F, Ramió-Torrentà L, Gich J, Volpini V, Pastor P. Genis D, et al. Neurology. 2018 Nov 20;91(21):e1988-e1998. doi: 10.1212/WNL.0000000000006550. Epub 2018 Oct 31. Neurology. 2018. PMID: 30381368
Pharmaceutical consumption and cost in patients with dementia: A longitudinal study by the Registry of Dementias of Girona (ReDeGi) in Catalonia (Spain).
Turró-Garriga O, Calvó-Perxas L, Albaladejo R, Alsina E, Cuy JM, Llinàs-Reglà J, Roig AM, Serena J, Vallmajó N, Viñas M, López-Pousa S, Vilalta-Franch J, Garre-Olmo J; Registry of Dementia of Girona Study Group (ReDeGi Study Group). Turró-Garriga O, et al. Arch Gerontol Geriatr. 2015 May-Jun;60(3):448-52. doi: 10.1016/j.archger.2015.01.020. Epub 2015 Feb 7. Arch Gerontol Geriatr. 2015. PMID: 25716011
71 results