António Jorge dos Santos Pereira de Sequeiros
AuthID: R-000-23K
1
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, Jose; Damasio, Joana;
PUBLISHED: 2023, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE
AUTHORS: Malaquias, Maria Joao; Oliveira, Jorge; Santos, Manuela; Brandao, Ana Filipa; Sardoeira, Ana; Sequeiros, Jorge; Barros, Jose; Damasio, Joana;
PUBLISHED: 2023, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
AUTHORS: Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; ...More
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 110, ISSUE: 7
AUTHORS: Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; ...More
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 110, ISSUE: 7
INDEXED IN: Scopus WOS
Scopus WOS3
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
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
WOS4
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
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
WOS5
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
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
WOS6
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
7
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: WOS
WOS8
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
WOS9
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
10
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
INDEXED IN: Scopus WOS
Scopus WOS