Navegação Ciências da Saúde por Autor "Fussiger, Helena"

Resultados 1-3 de 3

    • 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 ...

    • 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 ...