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TITLE: From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal
AUTHORS: Daniela Couto; Jorge Sequeiros; Manuela Lima; Liliana Sousa; Álvaro Mendes;
PUBLISHED: 2024
INDEXED IN: CrossRef
IN MY: ORCID
13
TITLE: Pseudodominance in Friedreich Ataxia-Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation
AUTHORS: Malaquias, Maria Joao; Oliveira, Jorge; Santos, Manuela; Brandao, Ana Filipa; Sardoeira, Ana; Sequeiros, Jorge; Barros, José ; Damasio, Joana;
PUBLISHED: 2023, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 10, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
14
TITLE: Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
AUTHORS: Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra; ...More
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 110, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID
16
TITLE: Health-related Roles of Older Generations in Families with Inherited Genetic Conditions: A Scoping Review
AUTHORS: Carla Roma Oliveira; Catarina Seidi; Jorge Sequeiros; Liliana Sousa; Álvaro Mendes;
PUBLISHED: 2023
INDEXED IN: CrossRef
IN MY: ORCID
17
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
IN MY: ORCID
19
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
IN MY: ORCID
20
TITLE: Professora Paula Coutinho (1941-2022) [Professor Paula Coutinho (1941-2022)]
AUTHORS: Teive, HAG; Coutinho, L; Ferreira, JJ ; Sequeiros, J;
PUBLISHED: 2022, SOURCE: Arquivos de neuro-psiquiatria, VOLUME: 80, ISSUE: 8
INDEXED IN: Scopus
IN MY: ORCID
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