The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research

The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research

Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. MJD is characterized by late-onset progressive cerebellar ataxia associated with variable clinical findings, including pyramidal signs and a dystonic-rigid extrapyramidal syndrom...

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Bibliographic Details
Main Authors: Manuela Lima, Mafalda Raposo, Ana Ferreira, Ana Rosa Vieira Melo, Sara Pavão, Filipa Medeiros, Luís Teves, Carlos Gonzalez, João Lemos, Paula Pires, Pedro Lopes, David Valverde, José Gonzalez, Teresa Kay, João Vasconcelos
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Biomedicines
Subjects:
MJD
SCA3
spinocerebellar ataxia type 3
homogeneous cohorts
European Spinocerebellar Ataxia type 3/Machado-Joseph disease Initiative (ESMI)
polyglutamine disorders
Online Access:https://www.mdpi.com/2227-9059/11/2/247

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https://www.mdpi.com/2227-9059/11/2/247

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