The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia-Reference-Cited by-同舟云学术

The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia

Published:2020-03-10 Issue:4 Volume:143 Page:e25-e25
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Yau Wai Yan¹^ORCID,Raposo Mafalda²³,Bettencourt Conceição⁴⁵,Labrum Robyn⁶,Vasconcelos João⁷,Parkinson Michael H⁸,Giunti Paola⁸^ORCID,Wood Nicholas W¹⁶,Lima Manuela²³,Houlden Henry¹⁶^ORCID

Affiliation:

1. Department of Neuromuscular Diseases, Institute of Neurology, University College London, UK

2. Faculty of Sciences and Technology, University of Azores, Ponta Delgada, Portugal

3. Institute for Molecular and Cell Biology, Institute for Investigation and Innovation in Health (i3S), University of Porto, Porto, Portugal

4. The Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK

5. Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK

6. Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK

7. Department of Neurology, Hospital of Divino Espírito Santo, Ponta Delgada, Portugal

8. Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London, UK

Funder

Ataxia UK and Rosetree Trust

British Neuropathological Society

MRC

Medical Research Council

Wellcome Trust

Rosetrees Trust, Brain Research UK

National Institute for Health Research University College London Hospitals Biomedical Research Centre

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/143/4/e25/33111038/awaa043.pdf

Reference13 articles.

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2. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion;Campuzano;Science,1996

3. Genetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis;de Mattos;J Neurol Neurosurg Psychiatry,2019

4. Determinants of onset age in Friedreich’s ataxia;De Michele;J Neurol,1998

5. Intergenerational and striatal CAG repeat instability in Huntington’s disease knock-in mice involve different DNA repair genes;Dragileva;Neurobiol Dis,2009

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4. Reply: The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia;Brain;2020-03-10