Publications by authors named "Manuela Lima"

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From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal.
Daniela Couto, Jorge Sequeiros, Manuela Lima, Liliana Sousa, Álvaro Mendes

J Community Genet· December 2025

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The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort.
Patrick Silva, Marina A Costa, Laetitia Gaspar, João Durães, Inês Cunha, Manuela Lima

CNS Drugs· October 2025

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Article Title: Impact of Dysphagia on Quality of Life in Machado-Joseph Disease.
Joana Paz Mota, Inês Tello Rodrigues, Ana Filipa Ferreira, Ana Rosa Vieira Melo, Paula Pires, Manuela Lima

Cerebellum· September 2025

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Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort.
Moritz Berger, Hector Garcia-Moreno, Mónica Ferreira, Jeannette Hubener-Schmid, Tamara Schaprian, Manuela Lima

Lancet Reg Health Eur· August 2025

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Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado-Joseph Disease.
Ana F Ferreira, Mafalda Raposo, Emily D Shaw, Louisa Liu, João Vasconcelos, Manuela Lima

Ann Neurol· July 2025

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Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis.
Marilena Lauerer, Jennifer Faber, Nicolas Casadei, Magda M Santana, Georg Auburger, Manuela Lima

Acta Neuropathol Commun· July 2025

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Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort.
Moritz Berger, Hector Garcia-Moreno, Monica Ferreira, Jeannette Hubener-Schmid, Tamara Schaprian, Manuela Lima

medRxiv· January 2025

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Global DNA methylation is not elevated in blood samples from Machado-Joseph disease mutation carriers.
Luís Teves, Ana Rosa Vieira Melo, Ana F Ferreira, Mafalda Raposo, Carolina Lemos, Manuela Lima

Epigenetics· December 2024

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Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.
Tim Lukas Elter, Daniel Sturm, Magda M Santana, Tamara Schaprian, Mafalda Raposo, Manuela Lima

J Neurol· December 2024

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Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease.
Ahmed M Sidky, Ana Rosa Vieira Melo, Teresa T Kay, Mafalda Raposo, Manuela Lima

Hum Genet· November 2024

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The protective effect of breastfeeding on febrile seizures: a systematic review with meta-analysis.
Maria Carolina Rocha Muniz, Rian Vilar Lima, Víctor Queirós Calheiros Campelo Maia, Arthur Meneses Bezerra, Isabela Franco Freire, Manuela Cavalcante Coling Lima

Eur J Pediatr· May 2024

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Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Mafalda Raposo, Jeannette Hübener-Schmid, Rebecca Tagett, Ana F Ferreira, Ana Rosa Vieira Melo, Manuela Lima

Neurobiol Dis· April 2024

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Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3.
Sara Duarte-Silva, Jorge Diogo Da Silva, Daniela Monteiro-Fernandes, Marta Daniela Costa, Andreia Neves-Carvalho, Manuela Lima

J Clin Invest· March 2024

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Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Jennifer Faber, Moritz Berger, Carlo Wilke, Jeannette Hubener-Schmid, Tamara Schaprian, Manuela Lima

Ann Neurol· February 2024

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Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors.
Holger Hengel, Peter Martus, Jennifer Faber, Paola Giunti, Hector Garcia-Moreno, Manuela Lima

J Neurol· January 2024

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Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Mafalda Raposo, Jeannette Hübener-Schmid, Ana F Ferreira, Ana Rosa Vieira Melo, João Vasconcelos, Manuela Lima

Brain· October 2023

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Acute abdomen in patients with covid-19: an integrative review.
Manuela Izidio DE Lima, Olival Cirilo Lucena DA Fonseca Neto

Rev Col Bras Cir· August 2023

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Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease.
Ana F Ferreira, Mafalda Raposo, Emily D Shaw, Naila S Ashraf, Filipa Medeiros, Manuela Lima

Cells· May 2023

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A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.
Magda M Santana, Laetitia S Gaspar, Maria M Pinto, Patrick Silva, Diana Adão, Manuela Lima

Neuropathol Appl Neurobiol· April 2023

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Stage-dependent biomarker changes in spinocerebellar ataxia type 3.
Jennifer Faber, Moritz Berger, Wilke Carlo, Jeannette Hübener-Schmid, Tamara Schaprian, Manuela Lima

medRxiv· April 2023

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The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors.
Holger Hengel, Peter Martus, Jennifer Faber, Paola Giunit, Hector Garcia-Moreno, Manuela Lima

J Neurol· February 2023

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The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research.
Manuela Lima, Mafalda Raposo, Ana Ferreira, Ana Rosa Vieira Melo, Sara Pavão

Biomedicines· January 2023

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Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3.
Roderick P P W M Maas, Steven Teerenstra, Manuela Lima, Paula Pires, Luís Pereira de Almeida

Mov Disord· September 2022

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Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal.
Daniela Couto, Liliana Sousa, Jorge Sequeiros, Manuela Lima, Álvaro Mendes

J Community Genet· August 2022

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Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal.
Daniela Couto, Liliana Sousa, Jorge Sequeiros, Manuela Lima, Álvaro Mendes

J Community Genet· July 2022

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