The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research
Abstract
:1. Machado-Joseph Disease: Overview
2. The Azorean MJD Cohort: Characterization
2.1. Demographic Characterization
2.2. Genetic Profile of the CAG Repeat at the ATXN3 Gene
2.3. Clinical Features
2.4. Patients’ Reported Outcome Measures (PROMs)
2.5. Relationship between Demographic, Clinical, and Patient-Reported Outcome Measures (PROMs)
3. The Azorean MJD Cohort: Contribute to Advances in MJD Research
Author Contributions
Funding
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Lima, M.; Raposo, M.; Ferreira, A.; Melo, A.R.V.; Pavão, S.; Medeiros, F.; Teves, L.; Gonzalez, C.; Lemos, J.; Pires, P.; et al. The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research. Biomedicines 2023, 11, 247. https://doi.org/10.3390/biomedicines11020247
Lima M, Raposo M, Ferreira A, Melo ARV, Pavão S, Medeiros F, Teves L, Gonzalez C, Lemos J, Pires P, et al. The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research. Biomedicines. 2023; 11(2):247. https://doi.org/10.3390/biomedicines11020247
Chicago/Turabian StyleLima, Manuela, Mafalda Raposo, Ana Ferreira, Ana Rosa Vieira Melo, Sara Pavão, Filipa Medeiros, Luís Teves, Carlos Gonzalez, João Lemos, Paula Pires, and et al. 2023. "The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research" Biomedicines 11, no. 2: 247. https://doi.org/10.3390/biomedicines11020247