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Comment
. 2023 Jun;38(6):957-958.
doi: 10.1002/mds.29437. Epub 2023 May 8.

Unraveling the Missing Heritability in Late-Onset Cerebellar Ataxia

Affiliations
Comment

Unraveling the Missing Heritability in Late-Onset Cerebellar Ataxia

Céline Bonnet. Mov Disord. 2023 Jun.
No abstract available

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Comment on

  • 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. 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.

References

    1. Krygier M, Mazurkiewicz-Bełdzińska M. Milestones in genetics of cerebellar ataxias. Neurogenetics 2021;22(4):225-234.
    1. Cortese A, Simone R, Sullivan R, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia [published correction appears in Nat Genet. 2019 May;51(5):920]. Nat Genet 2019;51(4):649-658.
    1. Frydas A, Wauters E, van der Zee J, Van Broeckhoven C. Uncovering the impact of noncoding variants in neurodegenerative brain diseases. Trends Genet 2022;38(3):258-272.
    1. Pellerin D, Danzi MC, Wilke C, et al. Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. N Engl J Med 2023;388(2):128-141.
    1. Clark RM, Dalgliesh GL, Endres D, Gomez M, Taylor J, Bidichandani SI. Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu. Genomics 2004;83(3):373-383.

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