Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement-Reference-Cited by-同舟云学术

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Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

Published:2011-07 Issue:1 Volume:89 Page:121-130
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Kobayashi Hatasu,Abe Koji,Matsuura Tohru,Ikeda Yoshio,Hitomi Toshiaki,Akechi Yuji,Habu Toshiyuki,Liu Wanyang,Okuda Hiroko,Koizumi Akio

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference26 articles.

1. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the ‘the Drew family of Walworth’;Harding;Brain,1982

2. Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias;Matilla-Dueñas;Cerebellum,2010

3. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis;Schöls;Lancet Neurol.,2004

4. Two cases of spinocerebellar ataxia accompanied by involvement of the skeletal motor neuron system and bulbar palsy;Ohta;Intern. Med.,2007

5. RNA gain-of-function in spinocerebellar ataxia type 8;Daughters;PLoS Genet.,2009

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1. A Novel Methodology to Recalibrate Pathogenic Range of SCA36 Repeat Expansions for PGT-M;2024-08-14

2. RNA structure in alternative splicing regulation: from mechanism to therapy;Acta Biochimica et Biophysica Sinica;2024-07-01

3. Whole Exome Sequencing Indicating GGCCTG Hexanucleotide Repeat in Patients with Spinocerebellar Ataxia Type 36;Neurodegenerative Diseases;2024-06-26

4. Another Common Genetic Ataxia in South Korea: Spinocerebellar ataxia 36;2024-06-07

5. Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation;Journal of Human Genetics;2024-05-29

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