Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing

Author:

Raposo Mafalda,Bettencourt Conceição,Melo Ana Rosa Vieira,Ferreira Ana F.,Alonso Isabel,Silva Paulo,Vasconcelos João,Kay Teresa,Saraiva-Pereira Maria Luiza,Costa Marta D.,Vilasboas-Campos Daniela,Bettencourt Bruno Filipe,Bruges-Armas Jácome,Houlden Henry,Heutink Peter,Jardim Laura Bannach,Sequeiros Jorge,Maciel Patrícia,Lima Manuela

Publisher

Elsevier BV

Subject

Neurology

Reference53 articles.

1. Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease;Akçimen;Aging (Albany NY) [Internet].,2020

2. Machado-Joseph disease: from first descriptions to new perspectives;Bettencourt;Orphanet. J. Rare. Dis. [Internet].,2011

3. The APOE ε 2 allele increases the risk of earlier age at onset in Machado-Joseph disease;Bettencourt;Arch. Neurol.,2011

4. DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases;Bettencourt;Ann. Neurol. [Internet].,2016

5. Homozygosity enhances severity in spinocerebellar ataxia type 3;Carvalho;Pediatr. Neurol. [Internet].,2008

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