A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care
There is still a substantial diagnostic delay, especially in those patients with types 2 and 3 SMA-5q. However, the present study demonstrated prolonged survival, especially in type 1 patients.
Authors
- Rodrigo de Holanda Mendonça (ORCID: https://orcid.org/0000-0001-7520-3353)
- Edmar Zanoteli (ORCID: https://orcid.org/0000-0002-4991-6760)
- Juliane Suellen Arndt de Godoi (ORCID: https://orcid.org/0009-0001-1817-8021)
Institutions
- Universidade de São Paulo (BR)
- Instituto Nacional de Pesquisas Espaciais (BR)
Publication Details
- Journal
- Arquivos de Neuro-Psiquiatria
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1055/s-0044-1792096
- Citations
- 2
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.88