A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation-Reference-Cited by-同舟云学术

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A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

Published:2014-01-09 Issue:3 Volume:59 Page:153-157
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Veneziano Liana,Mantuano Elide,Catalli Claudio,Gellera Cinzia,Durr Alexandra,Romano Silvia,Spadaro Maria,Frontali Marina,Novelletto Andrea

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg2013137.pdf

Reference22 articles.

1. Takano, H., Cancel, G., Ikeuchi, T., Lorenzetti, D., Mawad, R., Stevanin, G. et al. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am. J. Hum. Genet. 63, 1060–1066 (1998).

2. Nørremølle, A., Nielsen, J. E., Sørensen, S. A. & Hasholt, L. Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy. Hum. Genet. 95, 313–318 (1995).

3. Warner, T. T., Lennox, G. G., Janota, I. & Harding, A. E. Autosomal-dominant dentatorubropallidoluysian atrophy in the United Kingdom. Mov. Disord. 9, 289–296 (1994).

4. Cox, H., Costin-Kelly, N. M., Ramani, P. & Whitehouse, W. P. An established case of dentatorubral pallidoluysian atrophy (DRPLA) with unusual features on muscle biopsy. Eur. J. Paediatr. Neurol. 4, 119–123 (2000).

5. Connarty, M., Dennis, N. R., Patch, C., Macpherson, J. N. & Harvey, J. F. Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy. Hum. Genet. 97, 76–78 (1996).

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Atrophin‐1 Function and Dysfunction in Dentatorubral–Pallidoluysian Atrophy;Movement Disorders;2023-02-21

2. The rare and the common: An Austrian DRPLA family harboring the European haplotype;Parkinsonism & Related Disorders;2021-06

3. DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder;Journal of Neurology;2020-10-26

4. The largest caucasian kindred with dentatorubral‐pallidoluysian atrophy: A founder mutation in italy;Movement Disorders;2019-11-21

5. A reference haplotype panel for genome-wide imputation of short tandem repeats;Nature Communications;2018-10-23

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