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TWINGEN - protocol for an observational clinical biobank recall and biomarker study to identify individuals with high risk of Alzheimer's disease.
Vuoksimaa E, Saari TT, Aaltonen A, Aaltonen S, Herukka SK, Iso-Markku P, Kokkola T, Kyttälä A, Kärkkäinen S, Liedes H, Ollikainen M, Palviainen T, Ruotsalainen I, Toivola A, Urjansson M, Vasankari T, Vähä-Ypyä H, Forsberg MM, Hiltunen M, Jalanko A, Kälviäinen R, Kuopio T, Lähteenmäki J, Nyberg P, Männikkö M, Serpi R, Siltanen S; FinnGen; Palotie A, Kaprio J, Runz H, Julkunen V. Vuoksimaa E, et al. Among authors: kyttala a. medRxiv [Preprint]. 2023 Nov 7:2023.11.03.23298018. doi: 10.1101/2023.11.03.23298018. medRxiv. 2023. Update in: BMJ Open. 2024 Jun 12;14(6):e081947. doi: 10.1136/bmjopen-2023-081947 PMID: 37965200 Free PMC article. Updated. Preprint.
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A. Mancini C, et al. Among authors: kyttala a. J Neurol. 2015 Jan;262(1):173-8. doi: 10.1007/s00415-014-7553-y. Epub 2014 Oct 31. J Neurol. 2015. PMID: 25359263 Free article.
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.
Sharifi A, Kousi M, Sagné C, Bellenchi GC, Morel L, Darmon M, Hulková H, Ruivo R, Debacker C, El Mestikawy S, Elleder M, Lehesjoki AE, Jalanko A, Gasnier B, Kyttälä A. Sharifi A, et al. Among authors: kyttala a. Hum Mol Genet. 2010 Nov 15;19(22):4497-514. doi: 10.1093/hmg/ddq381. Epub 2010 Sep 7. Hum Mol Genet. 2010. PMID: 20826447 Free PMC article.
34 results