A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1 , Mapping to SCA37 , Causes Spinocerebellar Ataxia-Reference-Cited by-同舟云学术

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1 , Mapping to SCA37 , Causes Spinocerebellar Ataxia

Published:2017-07 Issue:1 Volume:101 Page:87-103
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Seixas Ana I.,Loureiro Joana R.,Costa Cristina,Ordóñez-Ugalde Andrés,Marcelino Hugo,Oliveira Cláudia L.,Loureiro José L.,Dhingra Ashutosh,Brandão Eva,Cruz Vitor T.,Timóteo Angela,Quintáns Beatriz,Rouleau Guy A.,Rizzu Patrizia,Carracedo Ángel,Bessa José,Heutink Peter,Sequeiros Jorge,Sobrido Maria J.,Coutinho Paula,Silveira Isabel

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference48 articles.

1. Epidemiology and population genetics of degenerative ataxias;Sequeiros;Handb. Clin. Neurol.,2012

2. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond;Durr;Lancet Neurol.,2010

3. Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study;Coutinho;JAMA Neurol.,2013

4. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus;Silveira;Arch. Neurol.,2002

5. Emerging pathogenic pathways in the spinocerebellar ataxias;Carlson;Curr. Opin. Genet. Dev.,2009

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