The rare and the common: An Austrian DRPLA family harboring the European haplotype-Reference-Cited by-同舟云学术

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The rare and the common: An Austrian DRPLA family harboring the European haplotype

Published:2021-06 Issue: Volume:87 Page:119-121
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Amprosi Matthias,Zech Michael,Lichtner Peter,Eckstein Gertrud,Unterberger Iris,Eigentler Andreas,Indelicato Elisabetta,Puttinger Gertraud,Nachbauer Wolfgang,Boesch Sylvia

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference5 articles.

1. A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation;Veneziano;J. Hum. Genet.,2014

2. Dentatorubral-pallidoluysian atrophy: an update;Carroll,2018

3. Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: a correlation with CAG repeat length;Hasegawa;Mov. Disord.,2010

4. A unique origin and multistep process for the generation of expanded DRPLA triplet repeats;Yanagisawa;Hum. Mol. Genet.,1996

5. The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: a founder mutation in Italy;Grimaldi;Mov. Disord.,2019

Cited by 2 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. The relationship between the number of CAG repeats and clinical manifestations: a survey of Chinese DRPLA family;Acta Neurologica Belgica;2023-05-27

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

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