António Jorge dos Santos Pereira de Sequeiros
AuthID: R-000-23K
11
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
AUTHORS: Sequeiros, Jorge; Loureiro, Jose Leal; Barros, José ;
PUBLISHED: 2023, SOURCE: JOURNAL OF THE NEUROLOGICAL SCIENCES, VOLUME: 453
12
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
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: 
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WOS13
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
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
WOS14
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
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
15
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
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
16
TITLE: Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia Full Text
AUTHORS: Santos, Mariana; Damasio, Joana; Carmona, Susana; Neto, Joao Luis; Dehghani, Nadia; Guedes, Leonor Correia; Barbot, Clara; Barros, José ; Bras, Jose; Sequeiros, Jorge; Guerreiro, Rita;
PUBLISHED: 2022, SOURCE: CELLS, VOLUME: 11, ISSUE: 6
AUTHORS: Santos, Mariana; Damasio, Joana; Carmona, Susana; Neto, Joao Luis; Dehghani, Nadia; Guedes, Leonor Correia; Barbot, Clara; Barros, José ; Bras, Jose; Sequeiros, Jorge; Guerreiro, Rita;
PUBLISHED: 2022, SOURCE: CELLS, VOLUME: 11, ISSUE: 6
17
TITLE: Genetic analysis in a large cohort of patients with hereditary spastic paraplegia: diagnostic challenges
AUTHORS: Morais, Sara; Brandao, Ana Filipa; Lopes, Ana; Bastos Ferreira, Rita; Sousa, Susana; Silva, Paulo; Lopes, Fatima; Lopes, Alexandra; Damasio, Joana; Loureiro, Jose Leal; Magalhaes, Marina; Leao, Miguel; Costa, Cristina; Mare, Ricardo; Sequeiros, Jorge; Freixo, Joao Parente; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Morais, Sara; Brandao, Ana Filipa; Lopes, Ana; Bastos Ferreira, Rita; Sousa, Susana; Silva, Paulo; Lopes, Fatima; Lopes, Alexandra; Damasio, Joana; Loureiro, Jose Leal; Magalhaes, Marina; Leao, Miguel; Costa, Cristina; Mare, Ricardo; Sequeiros, Jorge; Freixo, Joao Parente; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS18
TITLE: Genetic characterization of 274 patients with neurofibromatosis type 1: rare and diagnostically challenging co-occurrence of two variants in the same patient
AUTHORS: Ferreira, Rita Bastos; Sousa, Susana; Lopes, Ana; Brandaeo, Ana Filipa; Morais, Sara; Silva, Paulo; Lopes, Fatima; Lopes, Alexandra; Patraquim, Claudia; Rocha, Miguel; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Ferreira, Rita Bastos; Sousa, Susana; Lopes, Ana; Brandaeo, Ana Filipa; Morais, Sara; Silva, Paulo; Lopes, Fatima; Lopes, Alexandra; Patraquim, Claudia; Rocha, Miguel; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS19
TITLE: Copy number variants in a large cohort analysed with whole-exome sequencing: lessons for genetic diagnosis
AUTHORS: Lopes, Fatima; Lopes, Alexandra M. ; Silva, Paulo; Sousa, Susana; Morais, Sara; Sa, Joana; Brandao, Ana Filipa; Lopes, Ana; Bastos Ferreira, Rita; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Lopes, Fatima; Lopes, Alexandra M. ; Silva, Paulo; Sousa, Susana; Morais, Sara; Sa, Joana; Brandao, Ana Filipa; Lopes, Ana; Bastos Ferreira, Rita; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS20
TITLE: Clinical and genetic characterization of seven Portuguese patients with KMT2B variants
AUTHORS: Lopes, Alexandra M. ; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana F.; Lopes, Fatima; Bastos Ferreira, Rita; Jorge, Andre; Januario, Cristina; Costa, Henrique M.; Bras, Ana C.; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao P.; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Lopes, Alexandra M. ; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana F.; Lopes, Fatima; Bastos Ferreira, Rita; Jorge, Andre; Januario, Cristina; Costa, Henrique M.; Bras, Ana C.; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao P.; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS