Navegando por Autor "Jardim, Laura B."
Agora exibindo 1 - 1 de 1
- Resultados por página
- Opções de Ordenação
Artigo Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients(Elsevier, 2020-11-03) Godeiro Junior, Clécio de Oliveira; Gama, Maria Thereza D.; Braga-Neto, Pedro; Rangel, Deborah M.; Silva, Rodrigo de Alencar e; Embiruçu, Emília K.; Cornejo-Olivas, Mario; Sarapura-Castro, Elison; Awad, Paula Saffie; Chesta, Daniela Muñoz; Kauffman, Marcelo; Quiroga, Sergio Rodriguez; Jardim, Laura B.; Graça, Felipe F. da; França Junior, Marcondes C.; Tomaselli, Pedro J.; Marques Junior, Wilson; Teive, Helio A.G.; Barsottini, Orlando G.P.; Pedroso, José Luiz; Synofzik, Matthis; 0000-0002-4312-1633Autosomal recessive cerebellar ataxias (ARCAs) comprise complex genetic ataxia disorders with variable central and peripheral nervous system involvement and systemic changes. They can overlap with other conditions such as hereditary spastic paraplegia, inborn errors of metabolism, and genetic encephalopathies.1 While usually starting in childhood or young adulthood, late adult-onset may occur. The advanced application of next-generation sequencing has allowed the molecular definition of many previously undetermined ARCAs in the last decade, including many new ARCA genes