António Jorge dos Santos Pereira de Sequeiros
AuthID: R-000-23K
31
TITLE: EXPANDING THE MUTATIONAL SPECTRUM OF KMT2B GENE: SIX NOVEL VARIANTS AND TWO CASES WITH ATYPICAL PRESENTATIONS Full Text
AUTHORS: Lopes, Alexandra; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana Filipa; Lopes, Fatima; Bastos Ferreira, Rita; Santos, Mariana; Jorge, Andre; Januario, Cristina; Costa, Henrique Moniz; Bras, Ana Catarina; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Lopes, Alexandra; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana Filipa; Lopes, Fatima; Bastos Ferreira, Rita; Santos, Mariana; Jorge, Andre; Januario, Cristina; Costa, Henrique Moniz; Bras, Ana Catarina; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: 
WOS
WOS32
TITLE: Professor Paula Coutinho (1941-2022) Full Text
AUTHORS: Teive, Helio Afonso Ghizoni; Coutinho, Leo; Ferreira, Joaquim Jose; Sequeiros, Jorge;
PUBLISHED: 2022, SOURCE: ARQUIVOS DE NEURO-PSIQUIATRIA, VOLUME: 80, ISSUE: 8
AUTHORS: Teive, Helio Afonso Ghizoni; Coutinho, Leo; Ferreira, Joaquim Jose; Sequeiros, Jorge;
PUBLISHED: 2022, SOURCE: ARQUIVOS DE NEURO-PSIQUIATRIA, VOLUME: 80, ISSUE: 8
33
TITLE: Congenital ataxia due to novel variant in ATP8A2 Full Text
AUTHORS: Damásio, J; Santos, D; Morais, S; Brás, J; Guerreiro, R; Sardoeira, A; Cavaco, S; Carrilho, I; Barbot, C; Barros, José ; Sequeiros, J;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 100, ISSUE: 1
AUTHORS: Damásio, J; Santos, D; Morais, S; Brás, J; Guerreiro, R; Sardoeira, A; Cavaco, S; Carrilho, I; Barbot, C; Barros, José ; Sequeiros, J;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 100, ISSUE: 1
34
TITLE: Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype Full Text
AUTHORS: Damásio, J; Santos, M; Samões, R; Araújo, M; Macedo, M; Sardoeira, A; Cavaco, S; Freitas, J; Barros, José ; Oliveira, J; Sequeiros, J;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 100, ISSUE: 6
AUTHORS: Damásio, J; Santos, M; Samões, R; Araújo, M; Macedo, M; Sardoeira, A; Cavaco, S; Freitas, J; Barros, José ; Oliveira, J; Sequeiros, J;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 100, ISSUE: 6
35
TITLE: Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report
AUTHORS: Joana Damásio; Ana Sardoeira; Maria Araújo; Isabel Carvalho; Jorge Sequeiros; Barros, José ;
PUBLISHED: 2021, SOURCE: Cerebellum and Ataxias, VOLUME: 8, ISSUE: 1
AUTHORS: Joana Damásio; Ana Sardoeira; Maria Araújo; Isabel Carvalho; Jorge Sequeiros; Barros, José ;
PUBLISHED: 2021, SOURCE: Cerebellum and Ataxias, VOLUME: 8, ISSUE: 1
36
TITLE: Activation of SNF1/AMPK mediates the mitochondrial derepression, resistance to oxidative stress and increased lifespan of cells lacking the phosphatase Sit4p Full Text
AUTHORS: Pereira, C; Pereira, AT; Costa, V ;
PUBLISHED: 2020, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, VOLUME: 1867, ISSUE: 4
AUTHORS: Pereira, C; Pereira, AT; Costa, V ;
PUBLISHED: 2020, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, VOLUME: 1867, ISSUE: 4
37
TITLE: Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease
AUTHORS: Fulya Akcimen; Sandra Martins ; Calwing Liao; Cynthia V Bourassa; Helene Catoire; Garth A Nicholson; Olaf Riess; Mafalda Raposo; Marcondes C Franca; Joao Vasconcelos; Manuela Lima; Iscia Lopes Cendes; Maria Luiza Saraiva Pereira; Laura B Jardim; Jorge Sequeiros; Patrick A Dion; Guy A Rouleau;
PUBLISHED: 2020, SOURCE: AGING-US, VOLUME: 12, ISSUE: 6
AUTHORS: Fulya Akcimen; Sandra Martins ; Calwing Liao; Cynthia V Bourassa; Helene Catoire; Garth A Nicholson; Olaf Riess; Mafalda Raposo; Marcondes C Franca; Joao Vasconcelos; Manuela Lima; Iscia Lopes Cendes; Maria Luiza Saraiva Pereira; Laura B Jardim; Jorge Sequeiros; Patrick A Dion; Guy A Rouleau;
PUBLISHED: 2020, SOURCE: AGING-US, VOLUME: 12, ISSUE: 6
INDEXED IN: WOS
WOS38
TITLE: Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease Full Text
AUTHORS: Akçimen, F; Martins, S ; Liao, C; Bourassa, CV; Catoire, H; Nicholson, GA; Riess, O; Raposo, M; França, MC; Vasconcelos, J; Lima, M; Lopes Cendes, I; Saraiva Pereira, ML; Jardim, LB; Sequeiros, J; Dion, PA; Rouleau, GA;
PUBLISHED: 2020, SOURCE: Aging, VOLUME: 12, ISSUE: 6
AUTHORS: Akçimen, F; Martins, S ; Liao, C; Bourassa, CV; Catoire, H; Nicholson, GA; Riess, O; Raposo, M; França, MC; Vasconcelos, J; Lima, M; Lopes Cendes, I; Saraiva Pereira, ML; Jardim, LB; Sequeiros, J; Dion, PA; Rouleau, GA;
PUBLISHED: 2020, SOURCE: Aging, VOLUME: 12, ISSUE: 6
39
TITLE: Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together Full Text
AUTHORS: Oliveira, CR; Mendes, A; Sequeiros, J; Sousa, L ;
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 28, ISSUE: 9
AUTHORS: Oliveira, CR; Mendes, A; Sequeiros, J; Sousa, L ;
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 28, ISSUE: 9
40
TITLE: Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype
AUTHORS: Santos, M; Damasio, J; Kun Rodrigues, C; Barbot, C; Sequeiros, J; Bras, J; Alonso, I; Guerreiro, R;
PUBLISHED: 2020, SOURCE: JOURNAL OF CLINICAL MEDICINE, VOLUME: 9, ISSUE: 4
AUTHORS: Santos, M; Damasio, J; Kun Rodrigues, C; Barbot, C; Sequeiros, J; Bras, J; Alonso, I; Guerreiro, R;
PUBLISHED: 2020, SOURCE: JOURNAL OF CLINICAL MEDICINE, VOLUME: 9, ISSUE: 4
