Maria Luiza Saraiva Pereira

Universidade Federal do Rio Grande do Sul — Brazil

Neuroscience · Life Sciences

31h-index3.2kcitations369works1.22yr avg
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Research Topics

Genetic Neurodegenerative Diseases(137), Mitochondrial Function and Pathology(91), Lysosomal Storage Disorders Research(74), Parkinson's Disease Mechanisms and Treatments(35), DNA Repair Mechanisms(26)

Publications368 total

Proteostasis disruption and lipid dyshomeostasis in neurodegeneration: exploring common druggable targets across sporadic and monogenic disorders
Frontiers in Molecular Neuroscience·2025Open Access
Aumento no número de casos de câncer de intestino no Brasil: uma revisão da literatura
Revista Eixos Tech·2025Open Access
Bioeconomia e sociobioeconomia: chegada de um conceito na Amazônia e sua distância do bem-viver das comunidades tradicionais
Boletim Mercado de Trabalho·2025Open Access
Pulmonary outcomes of probiotic use in pediatric patients with cystic fibrosis: a systematic review and meta-analysis
2025
Evolução de ameaças em fóruns da Dark Web e Surface Web: um estudo baseado em modelagem de tópicos e séries temporais
2025Open Access
2731P Homologous recombination deficiency (HRD) profiling in sarcomas: Insights from a single-institution molecular screening program
Annals of Oncology·2025
DOENÇA DO REFLUXO GASTROESOFÁGICO: AVANÇOS NO DIAGNÓSTICO E ABORDAGENS TERAPÊUTICAS ATUAIS
Asclepius International Journal of Scientific Health Science·2025Open Access
SCA10 expansions occur in the Brazilian general population, but rearrangement happens between expansion and rs41524547
Human Molecular Genetics·2025
The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10
Journal of Neurology·2025· 6 cited
Blood <scp><i>DDIT4</i></scp> and <scp><i>TRIM13</i></scp> Transcript Levels Mark the Early Stages of Machado–Joseph Disease
Annals of Neurology·2025· 1 citedOpen Access
Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing
Journal of Community Genetics·2025Open Access
Rural Environment as a Risk Factor for the Age at Onset of Machado‐Joseph Disease
Movement Disorders Clinical Practice·2025· 1 citedOpen Access
123P Pan-cancer homologous recombination deficiency (HRD) evaluation in patients enrolled in a routine molecular screening program
Annals of Oncology·2024Open Access
The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy
Acta Neuropathologica·2024· 6 citedOpen Access
Caffeine Consumption and Interaction with ADORA2A, CYP1A2 and NOS1 Variants Do Not Influence Age at Onset of Machado-Joseph Disease
The Cerebellum·2024
Caffeine consumption and interaction with ADORA2A, CYP1A2 and NOS1 variants do not influence age at onset of Machado-Joseph disease
Research Square (Research Square)·2024Open Access
Spinocerebellar ataxia type 2 has multiple ancestral origins
Parkinsonism & Related Disorders·2023· 7 cited
Cognitive-affective manifestations since premanifest phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease
Cortex·2023· 14 cited
A model for the dynamics of expanded CAG repeat alleles: ATXN2 and ATXN3 as prototypes
Frontiers in Genetics·2023· 3 citedOpen Access
Blood <i>DDIT4</i> and <i>TRIM13</i> transcript levels mark the early stages of Machado-Joseph disease
2023Open Access
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Frequent Co-authors

Laura Bannach Jardim(34), Roberto Giugliani(14), Jonas Alex Morales Saute(14), Jorge Sequeiros(11), Isabel Silveira(10), Gabriel Vasata Furtado(10), Raphael Machado Castilhos(7), Carlos Roberto de Mello Rieder(7), Tailise Conte Gheno(6), Orlando Graziani Póvoas Barsottini(6), José Luiz Pedroso(6), Thaís Lampert Monte(6), Suzi Alves Camey(6), Aline Dutra Russo(5), Karina Carvalho Donis(5), Gabriele Nunes Souza(5), Luis Valmor Portela(5), Maira Graeff Burin(5), Isabel Alonso(5), Eduardo Preusser de Mattos(5)