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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
2
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
3
TITLE: THE PHENOTYPIC SPECTRA OF POLYQ EXPANSION VERSUS NON-EXPANSION FORMS IN SPINOCEREBELLAR ATAXIAS  Full Text
AUTHORS: Moura, J.; Oliveira, J.; Santos, M.; Costa, S.; Silva, L.; Lemos, C.; Barros, José; Sequeiros, J.; Damasio, J.;
PUBLISHED: 2024, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 122
INDEXED IN: WOS
4
TITLE: CHARACTERIZATION OF MOVEMENT DISORDERS IN A COHORT OF HEREDITARY CEREBELLAR ATAXIAS  Full Text
AUTHORS: Costa, S.; Oliveira, J.; Moura, J.; Lemos, C.; Santos, M.; Barros, José; Sequeiros, J.; Damasio, J.;
PUBLISHED: 2024, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 122
INDEXED IN: WOS
5
TITLE: Analysis of Regions of Homozygosity: Revisited Through New Bioinformatic Approaches
AUTHORS: Susana Valente; Mariana Ribeiro; Jennifer Schnur; Filipe Alves; Nuno Moniz; Dominik Seelow; João Parente Freixo; Paulo Filipe Silva; Jorge Oliveira;
PUBLISHED: 2024
INDEXED IN: CrossRef
IN MY: ORCID
6
TITLE: A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy - A case report
AUTHORS: Fernandes, Joana; Moura, Joa; Tarrio, Joao; Oliveira, Jorge; Lopes, Ana; Freixo, Joao Parente; Videira, Goncalo;
PUBLISHED: 2024, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 41
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
7
TITLE: Analysis of Regions of Homozygosity: Revisited Through New Bioinformatic Approaches
AUTHORS: Susana Valente; Mariana Ribeiro; Jennifer Schnur; Filipe Alves; Nuno Moniz; Dominik Seelow; João Parente Freixo; Paulo Filipe Silva; Jorge Oliveira;
PUBLISHED: 2024, SOURCE: BioMedInformatics, VOLUME: 4, ISSUE: 4
INDEXED IN: Scopus CrossRef
IN MY: ORCID
8
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
9
TITLE: Lower Facial Dystonia: An Unexpected Presentation Associated with Pathogenic RFC1 Repeat Expansions
AUTHORS: Fonte, Joana; Machado, Celia; Oliveira, Jorge; Magalhaes, Marina;
PUBLISHED: 2023, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 10, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
10
TITLE: Diagnosis across a cohort of atypical atypical and complex parkinsonism
AUTHORS: Malaquias, Maria Joao; Igreja, Liliana; Nogueira, Celia; Pereira, Cristina; Vilarinho, Laura; Quelhas, Dulce; Freixo, Joao Parente; Oliveira, Jorge; Magalha, Marina;
PUBLISHED: 2023, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 111
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
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