António Jorge dos Santos Pereira de Sequeiros
AuthID: R-000-23K
51
TITLE: Detection of copy number variations in rare Mendelian disorders using whole exome sequencing Full Text
AUTHORS: Susana Sousa; Paulo Silva; Susana Barbosa; Ana Lopes; Ana Filipa Brandao; Patricia Arinto; Sara Morais; Isabel Alonso; Jorge Sequeiros;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Susana Sousa; Paulo Silva; Susana Barbosa; Ana Lopes; Ana Filipa Brandao; Patricia Arinto; Sara Morais; Isabel Alonso; Jorge Sequeiros;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: 
WOS
WOS52
TITLE: Parkin truncating variants result in a loss-of-function phenotype Full Text
AUTHORS: Mariana Santos; Sara Morais; Conceicao Pereira; Jorge Sequeiros; Isabel Alonso;
PUBLISHED: 2019, SOURCE: SCIENTIFIC REPORTS, VOLUME: 9, ISSUE: 1
AUTHORS: Mariana Santos; Sara Morais; Conceicao Pereira; Jorge Sequeiros; Isabel Alonso;
PUBLISHED: 2019, SOURCE: SCIENTIFIC REPORTS, VOLUME: 9, ISSUE: 1
INDEXED IN: 
Scopus WOS
Scopus WOS53
TITLE: A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal Full Text
AUTHORS: Alves Ferreira, M; Coelho, T; Santos, D; Sequeiros, J; Alonso, I; Sousa, A; Lemos, C ;
PUBLISHED: 2018, SOURCE: MOLECULAR NEUROBIOLOGY, VOLUME: 55, ISSUE: 5
AUTHORS: Alves Ferreira, M; Coelho, T; Santos, D; Sequeiros, J; Alonso, I; Sousa, A; Lemos, C ;
PUBLISHED: 2018, SOURCE: MOLECULAR NEUROBIOLOGY, VOLUME: 55, ISSUE: 5
54
TITLE: Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study
AUTHORS: Alice Lopes; Alexandra Sousa; Isabel Fonseca ; Margarida Branco; Carla Rodrigues; Teresa Coelho; Jorge Sequeiros; Paula Freitas;
PUBLISHED: 2018, SOURCE: JOURNAL OF COMMUNITY GENETICS, VOLUME: 9, ISSUE: 1
AUTHORS: Alice Lopes; Alexandra Sousa; Isabel Fonseca ; Margarida Branco; Carla Rodrigues; Teresa Coelho; Jorge Sequeiros; Paula Freitas;
PUBLISHED: 2018, SOURCE: JOURNAL OF COMMUNITY GENETICS, VOLUME: 9, ISSUE: 1
55
TITLE: iBoccia: A Framework to Monitor the Boccia Gameplay in Elderly
AUTHORS: Vinicius Silva; Joao A Ramos ; Filomena Soares ; Paulo Novais ; Pedro Arezes ; Filipe Sousa ; Joana Silva; Antonio Santos;
PUBLISHED: 2018, SOURCE: 6th ECCOMAS Thematic Conference on Computational Vision and Medical Image Processing (VipIMAGE) in VIPIMAGE 2017, VOLUME: 27
AUTHORS: Vinicius Silva; Joao A Ramos ; Filomena Soares ; Paulo Novais ; Pedro Arezes ; Filipe Sousa ; Joana Silva; Antonio Santos;
PUBLISHED: 2018, SOURCE: 6th ECCOMAS Thematic Conference on Computational Vision and Medical Image Processing (VipIMAGE) in VIPIMAGE 2017, VOLUME: 27
56
TITLE: HIV-Infected Patients With and Without Lipodystrophy Under Combined Antiretroviral Therapy: Evaluation of Body Composition
AUTHORS: Ines Grenha; Joana Oliveira; Eva Lau ; Ana Cristina Santos ; Antonio Sarmento ; Jorge Pereira; Davide Carvalho ; Paula Freitas ;
PUBLISHED: 2018, SOURCE: JOURNAL OF CLINICAL DENSITOMETRY, VOLUME: 21, ISSUE: 1
AUTHORS: Ines Grenha; Joana Oliveira; Eva Lau ; Ana Cristina Santos ; Antonio Sarmento ; Jorge Pereira; Davide Carvalho ; Paula Freitas ;
PUBLISHED: 2018, SOURCE: JOURNAL OF CLINICAL DENSITOMETRY, VOLUME: 21, ISSUE: 1
57
TITLE: Visceral adipose tissue and carotid intima-media thickness in HIV-infected patients undergoing cART: a prospective cohort study Full Text
AUTHORS: Maria Teresa Beires; Andre Silva Pinto ; Ana Cristina Santos ; Antonio Jose Madureira; Jorge Pereira; Davide Carvalho ; Antonio Sarmento ; Paula Freitas ;
PUBLISHED: 2018, SOURCE: BMC INFECTIOUS DISEASES, VOLUME: 18, ISSUE: 1
AUTHORS: Maria Teresa Beires; Andre Silva Pinto ; Ana Cristina Santos ; Antonio Jose Madureira; Jorge Pereira; Davide Carvalho ; Antonio Sarmento ; Paula Freitas ;
PUBLISHED: 2018, SOURCE: BMC INFECTIOUS DISEASES, VOLUME: 18, ISSUE: 1
58
TITLE: Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events
AUTHORS: Martins, S; Sequeiros, J;
PUBLISHED: 2018, SOURCE: POLYGLUTAMINE DISORDERS, VOLUME: 1049
AUTHORS: Martins, S; Sequeiros, J;
PUBLISHED: 2018, SOURCE: POLYGLUTAMINE DISORDERS, VOLUME: 1049
59
TITLE: Analysis of (CAG)(n) expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy Full Text
AUTHORS: Zhou, X; Wang, C; Ding, D; Chen, Z; Peng, Y; Peng, H; Hou, X; Wang, P; Hou, X; Ye, W; Li, T; Yang, H; Qiu, R; Xia, K; Sequeiros, J; Tang, B; Jiang, H;
PUBLISHED: 2018, SOURCE: SCIENTIFIC REPORTS, VOLUME: 8, ISSUE: 1
AUTHORS: Zhou, X; Wang, C; Ding, D; Chen, Z; Peng, Y; Peng, H; Hou, X; Wang, P; Hou, X; Ye, W; Li, T; Yang, H; Qiu, R; Xia, K; Sequeiros, J; Tang, B; Jiang, H;
PUBLISHED: 2018, SOURCE: SCIENTIFIC REPORTS, VOLUME: 8, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS60
TITLE: mtDNA copy number associated with age of onset in familial amyloid polyneuropathy
AUTHORS: Santos, D; Santos, MJ; Alves Ferreira, M; Coelho, T; Sequeiros, J; Alonso, I; Oliveira, P ; Sousa, A; Lemos, C ; Grazina, M;
PUBLISHED: 2018, SOURCE: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, VOLUME: 89, ISSUE: 3
AUTHORS: Santos, D; Santos, MJ; Alves Ferreira, M; Coelho, T; Sequeiros, J; Alonso, I; Oliveira, P ; Sousa, A; Lemos, C ; Grazina, M;
PUBLISHED: 2018, SOURCE: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, VOLUME: 89, ISSUE: 3
