Aprataxin (APTX) gene mutations resembling multiple system atrophy-Reference-Cited by-同舟云学术

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Aprataxin (APTX) gene mutations resembling multiple system atrophy

Published:2007-04 Issue:3 Volume:13 Page:139-142
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Baba Yasuhiko,Uitti Ryan J.,Boylan Kevin B.,Uehara Yoshinari,Yamada Tatsuo,Farrer Matthew J.,Couchon Elizabeth,Batish Sat Dev,Wszolek Zbigniew K.

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference13 articles.

1. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene;Date;Nat Genet,2001

2. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin;Moreira;Nat Genet,2001

3. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations;Shimazaki;Neurology,2002

4. Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation;Sekijima;Mov Disord,2003

5. Phenotypic variability of aprataxin gene mutations;Tranchant;Neurology,2003

Cited by 10 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. Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report;Parkinsonism & Related Disorders;2024-06

2. Parkinson’s Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA;Current Neurology and Neuroscience Reports;2023-03-07

3. Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease;The EMBO Journal;2018-06-22

4. Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease;Progress in Biophysics and Molecular Biology;2015-03

5. Recognition and repair of chemically heterogeneous structures at DNA ends;Environmental and Molecular Mutagenesis;2014-08-11

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