The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia
- PMID: 32154839
- PMCID: PMC7174052
- DOI: 10.1093/brain/awaa043
The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia
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Comment in
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Reply: The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.Brain. 2020 Apr 1;143(4):e26. doi: 10.1093/brain/awaa044. Brain. 2020. PMID: 32154840 No abstract available.
Comment on
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MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1.Brain. 2019 Jun 19;142(7):1876-86. doi: 10.1093/brain/awz115. Online ahead of print. Brain. 2019. PMID: 31216018 Free PMC article.
References
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- Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, et al.Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996; 271: 1423–7. - PubMed
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- de Mattos EP, Kolbe Musskopf M, Bielefeldt Leotti V, Saraiva-Pereira ML, Jardim LB.. Genetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 2019; 90: 203–10. - PubMed
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- De Michele G, Filla A, Criscuolo C, Scarano V, Cavalcanti F, Pianese L, et al.Determinants of onset age in Friedreich’s ataxia. J Neurol 1998; 245: 166–8. - PubMed
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