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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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Detalles Bibliográficos
Autores principales: Lima, Manuela, Raposo, Mafalda, Ferreira, Ana, Melo, Ana Rosa Vieira, Pavão, Sara, Medeiros, Filipa, Teves, Luís, Gonzalez, Carlos, Lemos, João, Pires, Paula, Lopes, Pedro, Valverde, David, Gonzalez, José, Kay, Teresa, Vasconcelos, João
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9953730/
https://www.ncbi.nlm.nih.gov/pubmed/36830784
http://dx.doi.org/10.3390/biomedicines11020247