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TITLE: Movement Disorders in Hereditary Cerebellar Ataxia
AUTHORS: Damasio, Joana; Costa, Sara; Moura, Joao; Santos, Mariana; Lemos, Carolina; Mendes, Alexandre; Oliveira, Jorge; Barros, Jose; Sequeiros, Jorge;
PUBLISHED: 2025, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
2
TITLE: Addressing family communication in genetic counseling: A scoping review of process studies  Full Text
AUTHORS: Barbosa, Maria; Paneque, Milena; Dias, Sofia Fontoura; Julio, Filipa; Sequeiros, Jorge; Sousa, Liliana ; Clarke, Angus; Metcalfe, Alison; Sales, Celia M. D.; Mendes, Alvaro;
PUBLISHED: 2025, SOURCE: JOURNAL OF GENETIC COUNSELING, VOLUME: 34, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
3
TITLE: Deciphering Spastic Ataxia. Clinical and Genetic Profiles
AUTHORS: Joana Damásio; Mariana Santos; Sara Costa; João Moura; Ana Sardoeira; Carolina Lemos; Jorge Oliveira; José Barros; Jorge Sequeiros;
PUBLISHED: 2025, SOURCE: Neurology Genetics, VOLUME: 11, ISSUE: 6
INDEXED IN: CrossRef
IN MY: ORCID
4
TITLE: Modification of Huntington's disease by short tandem repeats
AUTHORS: Hong, Eun Pyo; Ramos, Eliana Marisa; Aziz, N. Ahmad; Massey, Thomas H.; Mcallister, Branduff; Lobanov, Sergey; Jones, Lesley; Holmans, Peter; Kwak, Seung; Orth, Michael; Ciosi, Marc; Lomeikaite, Vilija; Monckton, Darren G.; Long, Jeffrey D.; Lucente, Diane; Wheeler, Vanessa C.; Gillis, Tammy; Macdonald, Marcy E.; Sequeiros, Jorge; Gusella, James F.; Lee, Jong Min; ...More
PUBLISHED: 2024, SOURCE: BRAIN COMMUNICATIONS, VOLUME: 6, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID
5
TITLE: Health-related roles of older generations in families with inherited genetic conditions: a scoping review
AUTHORS: Oliveira, Carla Roma; Seidi, Catarina; Sequeiros, Jorge; Sousa, Liliana; Mendes, Alvaro;
PUBLISHED: 2024, SOURCE: JOURNAL OF COMMUNITY GENETICS
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
6
TITLE: Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms  Full Text
AUTHORS: Moura, Joao; Oliveira, Jorge; Santos, Mariana; Costa, Sara; Silva, Lenia; Lemos, Carolina; Barros, Jose; Sequeiros, Jorge; Damasio, Joana;
PUBLISHED: 2024, SOURCE: CEREBELLUM
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
7
TITLE: Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms  Full Text
AUTHORS: Moura, Joo; Oliveira, Jorge; Santos, Mariana; Costa, Sara; Silva, Lenia; Lemos, Carolina; Barros, Jose; Sequeiros, Jorge; Damasio, Joana;
PUBLISHED: 2024, SOURCE: CEREBELLUM, VOLUME: 23, ISSUE: 6
INDEXED IN: WOS CrossRef
IN MY: ORCID
8
TITLE: The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy
AUTHORS: Jonasz Weber; Leah Czisch; Priscila Pereira Sena; Florian Fath; Chrisovalantou Huridou; Natasa Schwarz; Rana Incebacak Eltemur; Anna Würth; Daniel Weishäupl; Miriam Döcker; Gunnar Blumenstock; Sandra Martins; Jorge Sequeiros; Guy Rouleau; Laura Bannach Jardim; Maria-Luiza Saraiva Pereira; Marcondes França; Carlos Gordon; Roy Zaltzman; Mario Cornejo Olivas; Bart C van de Warrenburg; Alexandra Durr; Alexis Brice; Peter Bauer; Thomas Klockgether; Ludger Schöls; Olaf Riess; Thorsten Schmidt; Peter Bauer; José Berciano; Sylvia Boesch; Alexis Brice; Alexandra Durr; Sylvie Forlani; Paola Giunti; Heike Jacobi; Bela Melegh; Massimo Pandolfo; Olaf Riess; Tanja Schmitz Hübsch; Ludger Schöls; Jörg Schulz; Giovanni Stevanin; Sandra Szymanski; Sophie Tezenas du Montcel; Dagmar Timmann; ...More
PUBLISHED: 2024, SOURCE: ACTA NEUROPATHOLOGICA, VOLUME: 148, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID
9
TITLE: The challenges of pre-symptomatic testing for late onset neurological diseases: lessons learned from over 25 years of practice.
AUTHORS: Paneque, Milena; Mendes, Alvaro; Damasio, Joana; Ledo, Susana; Sequeiros, Jorge; Freixo, Joao Parente;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: WOS
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