Maria Manuela de Medeiros Lima
AuthID: R-000-C9X
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TITLE: SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias
AUTHORS: Mischa Uebachs; Philipp Wegner; Sebastian Schaaf; Simon Kugai; Heike Jacobi; Sheng-Han Kuo; Tetsuo Ashizawa; Juliane Fluck; Sophie Tezenas du Montcel; Peter Bauer; Paola Giunti; Arron Cook; Robyn Labrum; Michael H Parkinson; Alexandra Durr; Alexis Brice; Perrine Charles; Cecilia Marelli; Caterina Mariotti; Lorenzo Nanetti; ...More
PUBLISHED: 2024, SOURCE: Cerebellum, VOLUME: 23, ISSUE: 3
AUTHORS: Mischa Uebachs; Philipp Wegner; Sebastian Schaaf; Simon Kugai; Heike Jacobi; Sheng-Han Kuo; Tetsuo Ashizawa; Juliane Fluck; Sophie Tezenas du Montcel; Peter Bauer; Paola Giunti; Arron Cook; Robyn Labrum; Michael H Parkinson; Alexandra Durr; Alexis Brice; Perrine Charles; Cecilia Marelli; Caterina Mariotti; Lorenzo Nanetti; ...More
PUBLISHED: 2024, SOURCE: Cerebellum, VOLUME: 23, ISSUE: 3
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TITLE: 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 Full Text
AUTHORS: Sidky, Ahmed M.; Melo, Ana Rosa Vieira; Kay, Teresa T.; Raposo, Mafalda; Lima, Manuela; Monckton, Darren G.;
PUBLISHED: 2024, SOURCE: HUMAN GENETICS
AUTHORS: Sidky, Ahmed M.; Melo, Ana Rosa Vieira; Kay, Teresa T.; Raposo, Mafalda; Lima, Manuela; Monckton, Darren G.;
PUBLISHED: 2024, SOURCE: HUMAN GENETICS
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TITLE: Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3
AUTHORS: Tim Lukas Elter; Daniel Sturm; Magda M Santana; Tamara Schaprian; Mafalda Raposo; Ana Rosa Vieira Melo; Manuela Lima; Berkan Koyak; Demet Oender; Marcus Grobe-Einsler; Sara Lopes; Patrick Silva; Luís Pereira de Almeida; Paola Giunti; Hector Garcia-Moreno; Suran Nethisinhe; Jeroen de Vries; Bart P van de Warrenburg; Judith van Gaalen; Matthis Synofzik; ...More
PUBLISHED: 2024, SOURCE: Journal of Neurology, VOLUME: 272, ISSUE: 1
AUTHORS: Tim Lukas Elter; Daniel Sturm; Magda M Santana; Tamara Schaprian; Mafalda Raposo; Ana Rosa Vieira Melo; Manuela Lima; Berkan Koyak; Demet Oender; Marcus Grobe-Einsler; Sara Lopes; Patrick Silva; Luís Pereira de Almeida; Paola Giunti; Hector Garcia-Moreno; Suran Nethisinhe; Jeroen de Vries; Bart P van de Warrenburg; Judith van Gaalen; Matthis Synofzik; ...More
PUBLISHED: 2024, SOURCE: Journal of Neurology, VOLUME: 272, ISSUE: 1
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TITLE: The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research
AUTHORS: Lima, Manuela; Raposo, Mafalda; Ferreira, Ana; Melo, Ana Rosa Vieira; Pavao, Sara; Medeiros, Filipa; Teves, Luis; Gonzalez, Carlos; Lemos, Joao; Pires, Paula; Lopes, Pedro; Valverde, David; Gonzalez, Jose; Kay, Teresa; Vasconcelos, Joao;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 2
AUTHORS: Lima, Manuela; Raposo, Mafalda; Ferreira, Ana; Melo, Ana Rosa Vieira; Pavao, Sara; Medeiros, Filipa; Teves, Luis; Gonzalez, Carlos; Lemos, Joao; Pires, Paula; Lopes, Pedro; Valverde, David; Gonzalez, Jose; Kay, Teresa; Vasconcelos, Joao;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 2
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TITLE: A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia Full Text
AUTHORS: Magda M Santana; Laetitia S Gaspar; Maria M Pinto; Patrick Silva; Diana Adão; Dina Pereira; Joana Afonso Ribeiro; Inês Cunha; Jeannette Huebener Schmid; Mafalda Raposo; Ana F Ferreira; Jennifer Faber; Sandra Kuhs; Hector Garcia Moreno; Kathrin Reetz; Andreas Thieme; Jon Infante; Bart P C van de Warrenburg; Paola Giunti; Olaf Riess; ...More
PUBLISHED: 2023, SOURCE: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, VOLUME: 49, ISSUE: 2
AUTHORS: Magda M Santana; Laetitia S Gaspar; Maria M Pinto; Patrick Silva; Diana Adão; Dina Pereira; Joana Afonso Ribeiro; Inês Cunha; Jeannette Huebener Schmid; Mafalda Raposo; Ana F Ferreira; Jennifer Faber; Sandra Kuhs; Hector Garcia Moreno; Kathrin Reetz; Andreas Thieme; Jon Infante; Bart P C van de Warrenburg; Paola Giunti; Olaf Riess; ...More
PUBLISHED: 2023, SOURCE: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, VOLUME: 49, ISSUE: 2
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TITLE: Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease Full Text
AUTHORS: Ferreira, Ana F.; Raposo, Mafalda; Shaw, Emily D.; Ashraf, Naila S.; Medeiros, Filipa; Brilhante, Maria de Fatima; Perkins, Matthew; Vasconcelos, Joao; Kay, Teresa; Costa, Maria do Carmo; Lima, Manuela;
PUBLISHED: 2023, SOURCE: CELLS, VOLUME: 12, ISSUE: 10
AUTHORS: Ferreira, Ana F.; Raposo, Mafalda; Shaw, Emily D.; Ashraf, Naila S.; Medeiros, Filipa; Brilhante, Maria de Fatima; Perkins, Matthew; Vasconcelos, Joao; Kay, Teresa; Costa, Maria do Carmo; Lima, Manuela;
PUBLISHED: 2023, SOURCE: CELLS, VOLUME: 12, ISSUE: 10
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TITLE: Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3 Full Text
AUTHORS: Raposo, Mafalda; Huebener Schmid, Jeannette; Ferreira, Ana F.; Vieira Melo, Ana Rosa; Vasconcelos, Joao; Pires, Paula; Kay, Teresa; Garcia Moreno, Hector; Giunti, Paola; Santana, Magda M.; de Almeida, Luis Pereira ; Infante, Jon; van de Warrenburg, Bart P.; de Vries, Jeroen J.; Faber, Jennifer; Klockgether, Thomas; Casadei, Nicolas; Admard, Jakob; Schols, Ludger; Riess, Olaf; ...More
PUBLISHED: 2023, SOURCE: BRAIN, VOLUME: 146, ISSUE: 10
AUTHORS: Raposo, Mafalda; Huebener Schmid, Jeannette; Ferreira, Ana F.; Vieira Melo, Ana Rosa; Vasconcelos, Joao; Pires, Paula; Kay, Teresa; Garcia Moreno, Hector; Giunti, Paola; Santana, Magda M.; de Almeida, Luis Pereira ; Infante, Jon; van de Warrenburg, Bart P.; de Vries, Jeroen J.; Faber, Jennifer; Klockgether, Thomas; Casadei, Nicolas; Admard, Jakob; Schols, Ludger; Riess, Olaf; ...More
PUBLISHED: 2023, SOURCE: BRAIN, VOLUME: 146, ISSUE: 10
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TITLE: Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3 Full Text
AUTHORS: Faber, Jennifer; Berger, Moritz; Wilke, Carlo; Hubener Schmid, Jeannette; Schaprian, Tamara; Santana, Magda M.; Grobe Einsler, Marcus; Onder, Demet; Koyak, Berkan; Giunti, Paola; Garcia Moreno, Hector; Gonzalez Robles, Cristina; Lima, Manuela; Raposo, Mafalda; Melo, Ana Rosa Vieira; de Almeida, Luis Pereira; Silva, Patrick; Pinto, Maria M.; van de Warrenburg, Bart P.; van Gaalen, Judith; ...More
PUBLISHED: 2023, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 95, ISSUE: 2
AUTHORS: Faber, Jennifer; Berger, Moritz; Wilke, Carlo; Hubener Schmid, Jeannette; Schaprian, Tamara; Santana, Magda M.; Grobe Einsler, Marcus; Onder, Demet; Koyak, Berkan; Giunti, Paola; Garcia Moreno, Hector; Gonzalez Robles, Cristina; Lima, Manuela; Raposo, Mafalda; Melo, Ana Rosa Vieira; de Almeida, Luis Pereira; Silva, Patrick; Pinto, Maria M.; van de Warrenburg, Bart P.; van Gaalen, Judith; ...More
PUBLISHED: 2023, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 95, ISSUE: 2
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TITLE: Blood and cerebellar abundance ofATXN3splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
AUTHORS: Mafalda Raposo; Jeannette Hübener-Schmid; Rebecca Tagett; Ana F Ferreira; Ana Rosa Vieira Melo; João Vasconcelos; Paula Pires; Teresa Kay; Hector Garcia-Moreno; Paola Giunti; Magda M Santana; Luis Pereira de Almeida; Jon Infante; Bart P van de Warrenburg; Jeroen J de Vries; Jennifer Faber; Thomas Klockgether; Nicolas Casadei; Jakob Admard; Ludger Schöls; ...More
PUBLISHED: 2023
AUTHORS: Mafalda Raposo; Jeannette Hübener-Schmid; Rebecca Tagett; Ana F Ferreira; Ana Rosa Vieira Melo; João Vasconcelos; Paula Pires; Teresa Kay; Hector Garcia-Moreno; Paola Giunti; Magda M Santana; Luis Pereira de Almeida; Jon Infante; Bart P van de Warrenburg; Jeroen J de Vries; Jennifer Faber; Thomas Klockgether; Nicolas Casadei; Jakob Admard; Ludger Schöls; ...More
PUBLISHED: 2023
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TITLE: Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing Full Text
AUTHORS: Raposo, Mafalda; Bettencourt, Conceicao; Melo, Ana Rosa Vieira; Ferreira, Ana F. ; Alonso, Isabel; Silva, Paulo; Vasconcelos, Joao; Kay, Teresa; Saraiva Pereira, Maria Luiza; Costa, Marta D.; Vilasboas Campos, Daniela; Bettencourt, Bruno Filipe; Bruges Armas, Jacome; Houlden, Henry; Heutink, Peter; Jardim, Laura Bannach; Sequeiros, Jorge; Maciel, Patricia; Lima, Manuela;
PUBLISHED: 2022, SOURCE: NEUROBIOLOGY OF DISEASE, VOLUME: 162
AUTHORS: Raposo, Mafalda; Bettencourt, Conceicao; Melo, Ana Rosa Vieira; Ferreira, Ana F. ; Alonso, Isabel; Silva, Paulo; Vasconcelos, Joao; Kay, Teresa; Saraiva Pereira, Maria Luiza; Costa, Marta D.; Vilasboas Campos, Daniela; Bettencourt, Bruno Filipe; Bruges Armas, Jacome; Houlden, Henry; Heutink, Peter; Jardim, Laura Bannach; Sequeiros, Jorge; Maciel, Patricia; Lima, Manuela;
PUBLISHED: 2022, SOURCE: NEUROBIOLOGY OF DISEASE, VOLUME: 162
