Laura B. Jardim
Porto Alegre, RS 91501970, Brazil
Last Updated: 09/26/2026
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Found 118 publications
The Real Life of Ataxia Patients Without a Vertical Family History: a Twenty-year Experience in South Brazil.
Journal: Cerebellum (London, England)
Published: June 08, 2026
Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3.
Journal: Human molecular genetics
Published: December 23, 2025
Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.
Journal: Cerebellum (London, England)
Published: August 05, 2025
Cross-Cultural Adaptation of the Patient-Reported Outcome Measure of Ataxia: the Brazilian Version of PROM-Ataxia.
Journal: Cerebellum (London, England)
Published: May 16, 2025
Machado-Joseph disease in Brazil and other South American countries: A systematic Review and Meta-analysis of Prevalence, CAG Repeat Lengths, Age At Onset, and Ancestry.
Journal: Cerebellum (London, England)
Published: May 13, 2025
SCA10 expansions occur in the Brazilian general population, but rearrangement happens between expansion and rs41524547.
Journal: Human molecular genetics
Published: January 20, 2025
The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10.
Journal: Journal of neurology
Published: January 20, 2025
Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing.
Journal: Journal of community genetics
Published: October 08, 2024
Rural Environment as a Risk Factor for the Age at Onset of Machado-Joseph Disease.
Journal: Movement disorders clinical practice
Published: July 31, 2024
Caffeine Consumption and Interaction with ADORA2A, CYP1A2 and NOS1 Variants Do Not Influence Age at Onset of Machado-Joseph Disease.
Journal: Cerebellum (London, England)
Published: June 27, 2024
Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado-Joseph Disease.
Journal: Annals of neurology
Published: March 25, 2024
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.
Journal: Acta neuropathologica
Published: February 26, 2024
Last Updated: 09/26/2026