21
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; Lima, Manuela ; ...More
PUBLISHED: 2023, SOURCE: BRAIN, VOLUME: 146, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 5
22
TITLE: Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors (Journal of Neurology, (2023), 270, 2, (944-952), 10.1007/s00415-022-11441-z)  Full Text
AUTHORS: Holger Hengel; Peter Martus; Jennifer Faber; Paola Giunti; Hector Garcia Moreno; Nita Solanky; Thomas Klockgether; Kathrin Reetz; Bart van de Warrenburg; Magda Santana; Patrick Silva; Inês Cunha; Luís Pereira de Almeida ; Dagmar Timmann; Jon Infante; Jeroen de Vries; Manuela Lima ; Paula Pires; Khalaf Bushara; Heike Jacobi; Chiadi Onyike; Jeremy Schmahmann; Jeannette Hübener Schmid; Matthis Synofzik; Ludger Schöls; ...More
PUBLISHED: 2023, SOURCE: Journal of Neurology, VOLUME: 271, ISSUE: 1
INDEXED IN: Scopus CrossRef
23
TITLE: Genetic Variation in <i>ATXN3</i> (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: 2023, SOURCE: CEREBELLUM, VOLUME: 22, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 6
24
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; de Vries, Jeroen; Oz, Gulin; Joers, James M.; Synofzik, Matthis; Schols, Ludger; Riess, Olaf; Infante, Jon; Manrique, Leire; Timmann, Dagmar; Thieme, Andreas; Jacobi, Heike; Reetz, Kathrin; Dogan, Imis; Onyike, Chiadikaobi; Povazan, Michal; Schmahmann, Jeremy; Ratai, Eva Maria; Schmid, Matthias; Klockgether, Thomas; ...More
PUBLISHED: 2023, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 95, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
25
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
INDEXED IN: Scopus WOS CrossRef
26
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
INDEXED IN: Scopus WOS CrossRef: 1
27
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; Faber, Jennifer; Klockgether, Thomas; van de Warrenburg, Bart P. C.; ...More
PUBLISHED: 2022, SOURCE: MOVEMENT DISORDERS, VOLUME: 37, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 10
28
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
INDEXED IN: Scopus WOS CrossRef: 2 Handle
29
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
INDEXED IN: Scopus WOS CrossRef
30
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; Matthis Synofzik; Jeannette Hübener‐Schmid; Andreas Puschmann; Sorina Gorcenco; Zbigniew K Wszolek; Leonard Petrucelli; Paola Giunti; ...More
PUBLISHED: 2022, SOURCE: European Journal of Neurology, VOLUME: 29, ISSUE: 8
INDEXED IN: CrossRef: 22
Page 3 of 13. Total results: 122.