3
TITLE: Living with a question mark: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy
AUTHORS: Pereira, Jose D.; Costa, Catarina; Santos, Andreia; Lemos, Marina S.; Sequeiros, Jorge; Paneque, Milena ; Mendes, Alvaro;
PUBLISHED: 2024, SOURCE: JOURNAL OF COMMUNITY GENETICS
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
4
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
5
TITLE: From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal
AUTHORS: Couto, Daniela; Sequeiros, Jorge; Lima, Manuela; Sousa, Liliana; Mendes, Alvaro;
PUBLISHED: 2024, SOURCE: JOURNAL OF COMMUNITY GENETICS
INDEXED IN: Scopus WOS
6
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
7
TITLE: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST  Full Text
AUTHORS: Damásio, J; Barbot, C; Felgueiras, R; Brandão, AF; Barros, José ; Oliveira, J; Sequeiros, J;
PUBLISHED: 2023, SOURCE: Movement disorders : official journal of the Movement Disorder Society, VOLUME: 38, ISSUE: 5
INDEXED IN: Scopus CrossRef
IN MY: ORCID
8
TITLE: RESTRICTIONS IN CARE FOLLOWING THE COVID-19 PANDEMIC SEVERELY IMPACTED MACHADO-JOSEPH DISEASE PATIENTS: A STUDY IN SAO MIGUEL, THE AZORES  Full Text
AUTHORS: Couto, Daniela; Sousa, Liliana ; Sequeiros, Jorge; Lima, Manuela; Mendes, Alvaro;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
9
TITLE: MUTATIONAL SPECTRUM OF GENES RELATED TO HEREDITARY NEUROPATHIES - DATA FROM A MOLECULAR DIAGNOSTICS LABORATORY  Full Text
AUTHORS: Lopes, Fatima; Lopes, Alexandra M.; Brandao, Ana Filipa; Silva, Paulo; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Sa, Joana; Rocha, Liliana; Alves, Filipe; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
10
TITLE: GENETIC HETEROGENEITY IN MUSCULAR DYSTROPHIES AND CONGENITAL MYOPATHIES: DATA FROM MULTIGENE WES-BASED GENETIC STUDIES  Full Text
AUTHORS: Lopes, Alexandra M.; Lopes, Fatima; Brandao, Ana Filipa; Silva, Paulo; Alves, Filipe; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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