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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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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 |
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