Browsing by Author "Fussiger, Helena"
Now showing items 1-7 of 7
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Age at onset of gait ataxia in Spinocerebellar Ataxia type 3/ Machado-Joseph Disease is modulated by population-specific factors
(2017) [Abstract published in event] -
Ataxia de Friedreich : da suspeita clínica ao diagnóstico definitivo
(2018) [Dissertation]As ataxias recessivas são um grupo heterogêneo de doenças, mais frequentemente com idade de início precoce (antes dos 30 anos), neuropatia sensitivo-motora periférica e envolvimento extraneurológico, mas também com quadro ... -
Autosomal recessive spastic ataxia of Charlevoix-Saguenay : a family report from South Brazil
(2017) [Journal article]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
(2020) [Abstract published in event] -
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias
(2021) [Journal article]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
(2021) [Journal article]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
(2017) [Abstract published in event]
