Maria L. Pereira-Saraiva

Porto Alegre, RS 90035007, Brazil

Last Updated: 09/26/2026

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Found 84 publications

The Real Life of Ataxia Patients Without a Vertical Family History: a Twenty-year Experience in South Brazil.

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

The p.Ala1035Val variant in Niemann-Pick type C1: Clinical and molecular characterization in Brazilian and Portuguese patients suggests a shared founder effect.

The p.Ala1035Val variant in Niemann-Pick type C1: Clinical and molecular characterization in Brazilian and Portuguese patients suggests a shared founder effect.

Journal: Molecular genetics and metabolism

Published: January 29, 2026

Proteostasis disruption and lipid dyshomeostasis in neurodegeneration: exploring common druggable targets across sporadic and monogenic disorders.

Proteostasis disruption and lipid dyshomeostasis in neurodegeneration: exploring common druggable targets across sporadic and monogenic disorders.

Journal: Frontiers in molecular neuroscience

Published: August 06, 2025

SCA10 expansions occur in the Brazilian general population, but rearrangement happens between expansion and rs41524547.

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.

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.

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.

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.

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.

Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado-Joseph Disease.

Journal: Annals of neurology

Published: March 25, 2024

Spinocerebellar ataxia type 2 has multiple ancestral origins.

Spinocerebellar ataxia type 2 has multiple ancestral origins.

Journal: Parkinsonism & related disorders

Published: September 19, 2023

A model for the dynamics of expanded CAG repeat alleles: ATXN2 and ATXN3 as prototypes.

A model for the dynamics of expanded CAG repeat alleles: ATXN2 and ATXN3 as prototypes.

Journal: Frontiers in genetics

Published: September 18, 2023

Cognitive-affective manifestations since premanifest phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.

Cognitive-affective manifestations since premanifest phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.

Journal: Cortex; a journal devoted to the study of the nervous system and behavior

Published: June 01, 2023

Showing 1-12 of 84

Last Updated: 09/26/2026