Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil
This study emphasizes the heterogeneity of ATTRv presentation in admixed populations and underscores the need for expanded screening and multicenter studies to refine genotype-phenotypic correlations.
Authors
- Fernando Saraiva Coneglian
- Pedro José Tomaselli (ORCID: https://orcid.org/0000-0002-1485-3771)
- Elisa Pardo Vegezzi
- Carolina Lavigne‐Moreira
- PMM Garibaldi
- A. Cortese
- Flávio Henrique Valicelli
- Marcus Vinícius Simões (ORCID: https://orcid.org/0000-0002-5970-4913)
- Wilson Junior Marques
- Adilson Junior Pinto Galvão
- Gustavo Maximiano‐Alves
Institutions
- Conselho Nacional de Desenvolvimento Científico e Tecnológico (BR)
- Universidade de São Paulo (BR)
- Amyloidosis Foundation (US)
- Fundação de Amparo à Pesquisa do Estado de São Paulo (BR)
- National Hospital for Neurology and Neurosurgery (GB)
- Clinics Hospital of Ribeirão Preto (BR)
- University College London (GB)
Publication Details
- Journal
- Journal of the Peripheral Nervous System
- Published
- 2026-01-07
- DOI
- https://doi.org/10.1111/jns.70097
- Primary Topic
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- University College London