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TITLE: Real-life study of migraine burden modification with Botulinum toxin type A introduction in a group I hospital centre in Portugal  Full Text
AUTHORS: Pereira, A. S.; Macedo, I.; Alves, I.;
PUBLISHED: 2024, SOURCE: JOURNAL OF HEADACHE AND PAIN, VOLUME: 25
INDEXED IN: WOS
12
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
13
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
14
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
15
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
16
TITLE: In Memoriam: Paula Coutinho (1941-2022), a pioneer in Neurogenetics  Full Text
AUTHORS: Sequeiros, Jorge; Loureiro, Jose Leal; Barros, José ;
PUBLISHED: 2023, SOURCE: JOURNAL OF THE NEUROLOGICAL SCIENCES, VOLUME: 453
INDEXED IN: Scopus WOS CrossRef
17
TITLE: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by <i>De Novo</i> Variants in <i>SPAST</i>  Full Text
AUTHORS: Damasio, Joana; Barbot, Clara; Felgueiras, Rui; Brandao, Ana Filipa; Barros, José; Oliveira, Jorge; Sequeiros, Jorge;
PUBLISHED: 2023, SOURCE: MOVEMENT DISORDERS, VOLUME: 38, ISSUE: 5
INDEXED IN: WOS
18
TITLE: Intergenerational relations matter: exploring health-related roles in families with transthyretin-related familial amyloid polyneuropathy (TTR-FAP) and Huntington disease (HD)  Full Text
AUTHORS: Oliveira, Carla ; Mendes, Alvaro; Sequeiros, Jorge; Sousa, Liliana ;
PUBLISHED: 2023, SOURCE: 55th European-Society-of-Human-Genetics (ESHG) Conference in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 31
INDEXED IN: WOS
19
TITLE: Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage  Full Text
AUTHORS: Martins, Sandra ; Yahia, Ashraf; Costa, Ines P. D.; Siddig, Hassab E.; Abubaker, Rayan; Koko, Mahmoud; Corral Juan, Marc; Matilla Duenas, Antoni; Brice, Alexis; Durr, Alexandra; Leguern, Eric; Ranum, Laura P. W.; Amorim, Antonio ; Elsayed, Liena E. O.; Stevanin, Giovanni; Sequeiros, Jorge;
PUBLISHED: 2023, SOURCE: HUMAN GENETICS, VOLUME: 142, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef
20
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
IN MY: ORCID
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