Maria Manuela de Medeiros Lima
AuthID: R-000-C9X
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TITLE: Genetic Variation in ATXN3 (Ataxin-3) 3 ' UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 Full Text
AUTHORS: Melo, ARV; Raposo, M; Ventura, M; Martins, S ; Pavao, S; Alonso, I; Bettencourt, C; Lima, M;
PUBLISHED: 2022, SOURCE: CEREBELLUM, VOLUME: 22, ISSUE: 1
AUTHORS: Melo, ARV; Raposo, M; Ventura, M; Martins, S ; Pavao, S; Alonso, I; Bettencourt, C; Lima, M;
PUBLISHED: 2022, SOURCE: CEREBELLUM, VOLUME: 22, ISSUE: 1
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TITLE: Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3 Full Text
AUTHORS: Maas, Roderick P. P. W. M.; Teerenstra, Steven; Lima, Manuela; Pires, Paula; Pereira de Almeida, Luis ; van Gaalen, Judith; Timmann, Dagmar; Infante, Jon; Onyike, Chiadi; Bushara, Khalaf; Jacobi, Heike; Reetz, Kathrin; Santana, Magda M.; Afonso Ribeiro, Joana; Huebener Schmid, Jeannette; de Vries, Jeroen J.; Synofzik, Matthis; Schoels, Ludger; Garcia Moreno, Hector; Giunti, Paola; ...More
PUBLISHED: 2022, SOURCE: MOVEMENT DISORDERS, VOLUME: 37, ISSUE: 9
AUTHORS: Maas, Roderick P. P. W. M.; Teerenstra, Steven; Lima, Manuela; Pires, Paula; Pereira de Almeida, Luis ; van Gaalen, Judith; Timmann, Dagmar; Infante, Jon; Onyike, Chiadi; Bushara, Khalaf; Jacobi, Heike; Reetz, Kathrin; Santana, Magda M.; Afonso Ribeiro, Joana; Huebener Schmid, Jeannette; de Vries, Jeroen J.; Synofzik, Matthis; Schoels, Ludger; Garcia Moreno, Hector; Giunti, Paola; ...More
PUBLISHED: 2022, SOURCE: MOVEMENT DISORDERS, VOLUME: 37, ISSUE: 9
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TITLE: Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal
AUTHORS: Couto, Daniela; Sousa, Liliana; Sequeiros, Jorge; Lima, Manuela; Mendes, Alvaro;
PUBLISHED: 2022, SOURCE: JOURNAL OF COMMUNITY GENETICS, VOLUME: 13, ISSUE: 4
AUTHORS: Couto, Daniela; Sousa, Liliana; Sequeiros, Jorge; Lima, Manuela; Mendes, Alvaro;
PUBLISHED: 2022, SOURCE: JOURNAL OF COMMUNITY GENETICS, VOLUME: 13, ISSUE: 4
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TITLE: Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3 Full Text
AUTHORS: Hector Garcia‐Moreno; Mercedes Prudencio; Gilbert Thomas‐Black; Nita Solanky; Karen R Jansen‐West; Rana Hanna AL‐Shaikh; Amanda Heslegrave; Henrik Zetterberg; Magda M Santana; Luis Pereira de Almeida ; Ana Vasconcelos‐Ferreira; Cristina Januário; Jon Infante; Jennifer Faber; Thomas Klockgether; Kathrin Reetz; Mafalda Raposo; Ana F Ferreira; Manuela Lima; Ludger Schöls; ...More
PUBLISHED: 2022, SOURCE: European Journal of Neurology, VOLUME: 29, ISSUE: 8
AUTHORS: Hector Garcia‐Moreno; Mercedes Prudencio; Gilbert Thomas‐Black; Nita Solanky; Karen R Jansen‐West; Rana Hanna AL‐Shaikh; Amanda Heslegrave; Henrik Zetterberg; Magda M Santana; Luis Pereira de Almeida ; Ana Vasconcelos‐Ferreira; Cristina Januário; Jon Infante; Jennifer Faber; Thomas Klockgether; Kathrin Reetz; Mafalda Raposo; Ana F Ferreira; Manuela Lima; Ludger Schöls; ...More
PUBLISHED: 2022, SOURCE: European Journal of Neurology, VOLUME: 29, ISSUE: 8
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TITLE: Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity Full Text
AUTHORS: Hengel, H; Martus, P; Faber, J; Garcia Moreno, H; Solanky, N; Giunti, P; Klockgether, T; Reetz, K; van de Warrenburg, BP; de Almeida, LP ; Santana, MM; Januario, C; Silva, P; Thieme, A; Infante, J; de Vries, J; Lima, M; Ferreira, AF; Bushara, K; Jacobi, H; ...More
PUBLISHED: 2021, SOURCE: MOVEMENT DISORDERS, VOLUME: 37, ISSUE: 2
AUTHORS: Hengel, H; Martus, P; Faber, J; Garcia Moreno, H; Solanky, N; Giunti, P; Klockgether, T; Reetz, K; van de Warrenburg, BP; de Almeida, LP ; Santana, MM; Januario, C; Silva, P; Thieme, A; Infante, J; de Vries, J; Lima, M; Ferreira, AF; Bushara, K; Jacobi, H; ...More
PUBLISHED: 2021, SOURCE: MOVEMENT DISORDERS, VOLUME: 37, ISSUE: 2
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TITLE: Polyglutamine‐Expanded Ataxin‐3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood Full Text
AUTHORS: Jeannette Hübener‐Schmid; Kirsten Kuhlbrodt; Julien Peladan; Jennifer Faber; Magda M Santana; Holger Hengel; Heike Jacobi; Kathrin Reetz; Hector Garcia‐Moreno; Mafalda Raposo; Judith van Gaalen; Jon Infante; Katharina M Steiner; Jeroen de Vries; Marcel M Verbeek; Paola Giunti; Luis Pereira de Almeida ; Manuela Lima; Bart van de Warrenburg; Ludger Schöls; ...More
PUBLISHED: 2021, SOURCE: Movement Disorders, VOLUME: 36, ISSUE: 11
AUTHORS: Jeannette Hübener‐Schmid; Kirsten Kuhlbrodt; Julien Peladan; Jennifer Faber; Magda M Santana; Holger Hengel; Heike Jacobi; Kathrin Reetz; Hector Garcia‐Moreno; Mafalda Raposo; Judith van Gaalen; Jon Infante; Katharina M Steiner; Jeroen de Vries; Marcel M Verbeek; Paola Giunti; Luis Pereira de Almeida ; Manuela Lima; Bart van de Warrenburg; Ludger Schöls; ...More
PUBLISHED: 2021, SOURCE: Movement Disorders, VOLUME: 36, ISSUE: 11
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TITLE: Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease Full Text
AUTHORS: Akçimen, F; Martins, S ; Liao, C; Bourassa, CV; Catoire, H; Nicholson, GA; Riess, O; Raposo, M; França, MC; Vasconcelos, J; Lima, M; Lopes Cendes, I; Saraiva Pereira, ML; Jardim, LB; Sequeiros, J; Dion, PA; Rouleau, GA;
PUBLISHED: 2020, SOURCE: Aging, VOLUME: 12, ISSUE: 6
AUTHORS: Akçimen, F; Martins, S ; Liao, C; Bourassa, CV; Catoire, H; Nicholson, GA; Riess, O; Raposo, M; França, MC; Vasconcelos, J; Lima, M; Lopes Cendes, I; Saraiva Pereira, ML; Jardim, LB; Sequeiros, J; Dion, PA; Rouleau, GA;
PUBLISHED: 2020, SOURCE: Aging, VOLUME: 12, ISSUE: 6
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TITLE: Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice Full Text
AUTHORS: Wilke, C; Haas, E; Reetz, K; Faber, J; Garcia Moreno, H; Santana, MM; van de Warrenburg, B; Hengel, H; Lima, M; Filla, A; Durr, A; Melegh, B; Masciullo, M; Infante, J; Giunti, P; Neumann, M; de Vries, J; de Almeida, LP ; Rakowicz, M; Jacobi, H; ...More
PUBLISHED: 2020, SOURCE: EMBO MOLECULAR MEDICINE, VOLUME: 12, ISSUE: 7
AUTHORS: Wilke, C; Haas, E; Reetz, K; Faber, J; Garcia Moreno, H; Santana, MM; van de Warrenburg, B; Hengel, H; Lima, M; Filla, A; Durr, A; Melegh, B; Masciullo, M; Infante, J; Giunti, P; Neumann, M; de Vries, J; de Almeida, LP ; Rakowicz, M; Jacobi, H; ...More
PUBLISHED: 2020, SOURCE: EMBO MOLECULAR MEDICINE, VOLUME: 12, ISSUE: 7
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TITLE: The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia Full Text
AUTHORS: Yau, WY; Raposo, M; Bettencourt, C; Labrum, R; Vasconcelos, J; Parkinson, MH; Giunti, P; Wood, NW; Lima, M; Houlden, H;
PUBLISHED: 2020, SOURCE: BRAIN, VOLUME: 143, ISSUE: 4
AUTHORS: Yau, WY; Raposo, M; Bettencourt, C; Labrum, R; Vasconcelos, J; Parkinson, MH; Giunti, P; Wood, NW; Lima, M; Houlden, H;
PUBLISHED: 2020, SOURCE: BRAIN, VOLUME: 143, ISSUE: 4
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TITLE: Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease Full Text
AUTHORS: Raposo, M; Ramos, A; Santos, C; Kazachkova, N; Teixeira, B; Bettencourt, C; Lima, M;
PUBLISHED: 2019, SOURCE: MOLECULAR NEUROBIOLOGY, VOLUME: 56, ISSUE: 1
AUTHORS: Raposo, M; Ramos, A; Santos, C; Kazachkova, N; Teixeira, B; Bettencourt, C; Lima, M;
PUBLISHED: 2019, SOURCE: MOLECULAR NEUROBIOLOGY, VOLUME: 56, ISSUE: 1
