Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
Raposo, Mafalda, Hübener-Schmid, Jeannette, Tagett, Rebecca, Ferreira, Ana F., Vieira Melo, Ana Rosa, Vasconcelos, João, Pires, Paula, Kay, Teresa, Garcia-Moreno, Hector, Giunti, Paola, Santana, Magda M., Pereira de Almeida, Luis, Infante, Jon, van de Warrenburg, Bart P., de Vries, Jeroen J., Faber, Jennifer, Klockgether, Thomas, Casadei, Nicolas, Admard, Jakob, Schöls, Ludger, Riess, Olaf, Costa, Maria do Carmo, Lima, Manuela
Published in Neurobiology of disease (01.04.2024)
Published in Neurobiology of disease (01.04.2024)
Get full text
Journal Article
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
Melo, Ana Rosa Vieira, Raposo, Mafalda, Ventura, Marta, Martins, Sandra, Pavão, Sara, Alonso, Isabel, Bettencourt, Conceição, Lima, Manuela
Published in Cerebellum (London, England) (01.02.2023)
Published in Cerebellum (London, England) (01.02.2023)
Get full text
Journal Article
Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3
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, Almeida, Luís Pereira, Silva, Patrick, Pinto, Maria M., Warrenburg, Bart P., Gaalen, Judith, 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
Published in Annals of neurology (01.02.2024)
Published in Annals of neurology (01.02.2024)
Get full text
Journal Article
Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing
Raposo, Mafalda, Bettencourt, Conceição, Melo, Ana Rosa Vieira, Ferreira, Ana F., Alonso, Isabel, Silva, Paulo, Vasconcelos, João, Kay, Teresa, Saraiva-Pereira, Maria Luiza, Costa, Marta D., Vilasboas-Campos, Daniela, Bettencourt, Bruno Filipe, Bruges-Armas, Jácome, Houlden, Henry, Heutink, Peter, Jardim, Laura Bannach, Sequeiros, Jorge, Maciel, Patrícia, Lima, Manuela
Published in Neurobiology of disease (01.01.2022)
Published in Neurobiology of disease (01.01.2022)
Get full text
Journal Article
The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research
Lima, Manuela, Raposo, Mafalda, Ferreira, Ana, Melo, Ana Rosa Vieira, Pavão, Sara, Medeiros, Filipa, Teves, Luís, Gonzalez, Carlos, Lemos, João, Pires, Paula, Lopes, Pedro, Valverde, David, Gonzalez, José, Kay, Teresa, Vasconcelos, João
Published in Biomedicines (18.01.2023)
Published in Biomedicines (18.01.2023)
Get full text
Journal Article
Stage-dependent biomarker changes in spinocerebellar ataxia type 3
Faber, Jennifer, Berger, Moritz, Carlo, Wilke, Hübener-Schmid, Jeannette, Schaprian, Tamara, Santana, Magda M, Grobe-Einsler, Marcus, Onder, Dement, Koyak, Berkan, Giunti, Paola, Garcia-Moreno, Hector, Gonzalez-Robles, Cristina, Lima, Manuela, Raposo, Mafalda, Vieira Melo, Ana Rosa, de Almeida, Luís Pereira, Silva, Patrick, Pinto, Maria M, van de Warrenburg, Bart P, van Gaalen, Judith, Jeroen de Vries, Jeroen, Oz, Gulin, Joers, James M, Synofzik, Matthis, Schöls, 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
Published in medRxiv : the preprint server for health sciences (25.04.2023)
Published in medRxiv : the preprint server for health sciences (25.04.2023)
Get more information
Journal Article
Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3)
Melo, Ana Rosa Vieira, Ramos, Amanda, Kazachkova, Nadiya, Raposo, Mafalda, Bettencourt, Bruno Filipe, Rendeiro, Ana Rita, Kay, Teresa, Vasconcelos, João, Bruges-Armas, Jácome, Lima, Manuela
Published in Molecular diagnosis & therapy (01.12.2016)
Published in Molecular diagnosis & therapy (01.12.2016)
Get full text
Journal Article
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
Sidky, Ahmed M, Melo, Ana Rosa Vieira, Kay, Teresa T, Raposo, Mafalda, Lima, Manuela, Monckton, Darren G
Published in Human genetics (08.10.2024)
Published in Human genetics (08.10.2024)
Get full text
Journal Article
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3
Raposo, Mafalda, Hübener-Schmid, Jeannette, Ferreira, Ana F, Vieira Melo, Ana Rosa, Vasconcelos, João, Pires, Paula, Kay, Teresa, Garcia-Moreno, Hector, Giunti, Paola, Santana, Magda M, Pereira de Almeida, Luis, Infante, Jon, van de Warrenburg, Bart P, de Vries, Jeroen J, Faber, Jennifer, Klockgether, Thomas, Casadei, Nicolas, Admard, Jakob, Schöls, Ludger, Riess, Olaf, Lima, Manuela
Published in Brain (London, England : 1878) (03.10.2023)
Published in Brain (London, England : 1878) (03.10.2023)
Get full text
Journal Article
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
Melo, Ana Rosa Vieira, Raposo, Mafalda, Ventura, Marta, Martins, Sandra, Pavão, Sara, Alonso, Isabel, Bettencourt, Conceição, Lima, Manuela
Published in Cerebellum (London, England) (01.02.2023)
Published in Cerebellum (London, England) (01.02.2023)
Get full text
Journal Article
A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia
Santana, Magda M., Gaspar, Laetitia S., Pinto, Maria M., Silva, Patrick, Adão, Diana, Pereira, Dina, Ribeiro, Joana Afonso, Cunha, Inês, Huebener‐Schmid, Jeannette, Raposo, Mafalda, Ferreira, Ana F., Faber, Jennifer, Kuhs, Sandra, Garcia‐Moreno, Hector, Reetz, Kathrin, Thieme, Andreas, Infante, Jon, Warrenburg, Bart P. C., Giunti, Paola, Riess, Olaf, Schöls, Ludger, Lima, Manuela, Klockgether, Thomas, Januário, Cristina, Almeida, Luís Pereira, Krahe, Janna, Gaalen, Judith, Gonzalez‐Robles, Cristina, Fleszar, Zofia, Pelayo‐Negro, Ana Lara, Manrique, Leire, Timmann, Dagmar, Steiner, Katharina M., Melo, Ana Rosa Vieira
Published in Neuropathology and applied neurobiology (01.04.2023)
Published in Neuropathology and applied neurobiology (01.04.2023)
Get full text
Journal Article