Navegação Produção Científica por Autor "Fussiger, Helena"
Resultados 1-6 de 6
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Age at onset of gait ataxia in Spinocerebellar Ataxia type 3/ Machado-Joseph Disease is modulated by population-specific factors
Mattos, Eduardo Preusser de; Leotti, Vanessa Bielefeldt; Fussiger, Helena; Souza, Gabriele Nunes; Kersting, Nathália; Furtado, Gabriel Vasata; Saute, Jonas Alex Morales; Camey, Suzi Alves; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach (2017) [Resumo publicado em evento] -
Autosomal recessive spastic ataxia of Charlevoix-Saguenay : a family report from South Brazil
Burguêz, Daniela; Oliveira, Camila Maria de; Rockenbach, Márcio Aloisio Bezerra Cavalcanti; Fussiger, Helena; Vedolin, Leonardo Modesti; Winckler, Pablo Brea; Maestri, Marcelo Krieger; Finkelsztejn, Alessandro; Santorelli, Filippo M.; Jardim, Laura Bannach; Saute, Jonas Alex Morales (2017) [Artigo de periódico]Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by ... -
Caracterização de novos biomarcadores para as paraparesias espásticas hereditárias : potencial evocado motor e somatossensitivo : pré-análise
Brighente, Samanta; Santos, Marco Antônio dos; Fussiger, Helena; Giordani, Gabriela Marchisio; Sehnem, Lauren Herberts; Saute, Jonas Alex Morales (2020) [Resumo publicado em evento] -
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias
Giordani, Gabriela Marchisio; Lima, Fabricio Diniz de; Fussiger, Helena; González Salazar, Carelis Del Valle; Donis, Karina Carvalho; Freua, Fernando; Ortega, Roberta Paiva Magalhões; Freitas, Julian Letícia de; Barsottini, Orlando Graziani Povoas; Rosemberg, Sergio; Kok, Fernando; Pedroso, José Luiz; França Júnior, Marcondes Cavalcante; Saute, Jonas Alex Morales (2021) [Artigo de periódico]The present study aimed to characterize clinical and molecular data of a large cohort of subjects with childhood-onset hereditary spastic paraplegias (HSPs). A multicenter historical cohort was performed at five centers ... -
Evoked potentials as biomarkers of hereditary spastic paraplegias : a case-control study
Brighente, Samanta; Vicuña Serrano, Paul Cornelio; Louzada, Ana Luiza; Giordani, Gabriela Marchisio; Fussiger, Helena; Santos, Marco Antonnio Rocha dos; Arcila, Diana Maria Cubillos; Winckler, Pablo Brea; Saute, Jonas Alex Morales (2021) [Artigo de periódico]Introduction: The Hereditary Spastic Paraplegias (HSP) are a group of genetic diseases that lead to slow deterioration of locomotion. Clinical scales seem to have low sensitivity in detecting disease progression, making ... -
Relato de uma família com forma potencialmente tratável de paraparesia espástica hereditária
Chwal, Bruna Cristine; Fussiger, Helena; Burguêz, Daniela; Bonatto, Márcia Polese; Schöls, Ludger; Matte, Ursula da Silveira; Jardim, Laura Bannach; Pereira, Maria Luiza Saraiva; Siebert, Marina; Saute, Jonas Alex Morales (2017) [Resumo publicado em evento]