Isabel Conceição Moreira Pereira Alonso
AuthID: R-000-678
11
TITLE: Patients' Voices in Portugal - when rare becomes common Full Text
AUTHORS: Catarina Costa; Isabel Alonso; Jorge Sequeiros; Milena Paneque ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Catarina Costa; Isabel Alonso; Jorge Sequeiros; Milena Paneque ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: 
WOS
WOS12
TITLE: Interpreting sequence variants: a daily challenge in a clinical molecular genetics laboratory Full Text
AUTHORS: Rita Bastos Ferreira; Ana Filipa Brandao; Ana Margarida Lopes; Susana Sousa; Patricia Arinto; Sara Morais; Paulo Silva; Susana Barbosa; Diana Santos; 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: Rita Bastos Ferreira; Ana Filipa Brandao; Ana Margarida Lopes; Susana Sousa; Patricia Arinto; Sara Morais; Paulo Silva; Susana Barbosa; Diana Santos; 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
WOS13
TITLE: Ancestral Origin and diffusion of Va150Met mutation in Transthyretin-Related Familial Amyloid Polyneuropathy (ATTRV50M) in the Portuguese populations Full Text
AUTHORS: Catia Leal; Teresa Coelho; Diana Santos; Jorge Sequeiros; Isabel Alonso; Alda Sousa; Miguel Alves Ferreira; Carolina Lemos ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Catia Leal; Teresa Coelho; Diana Santos; Jorge Sequeiros; Isabel Alonso; Alda Sousa; Miguel Alves Ferreira; Carolina Lemos ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS14
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
WOS15
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 WOS16
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
17
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
18
TITLE: Spastic-ataxia in a Portuguese cohort of hereditary ataxias Full Text
AUTHORS: Damasio, J; Alonso, I; Barbot, C; Brandao, AF; Sardoeira, A; Pina, S; Coutinho, P; Barros, J; Sequeiros, J;
PUBLISHED: 2018, SOURCE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25
AUTHORS: Damasio, J; Alonso, I; Barbot, C; Brandao, AF; Sardoeira, A; Pina, S; Coutinho, P; Barros, J; Sequeiros, J;
PUBLISHED: 2018, SOURCE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25
INDEXED IN: WOS
WOS19
TITLE: Developing a framework to optimise the ongoing assessment of ATTR-amyloidosis Full Text
AUTHORS: Parman, Y; Coelho, T; Conceicao, I; Galan, L; Obici, L; Rousseau, A;
PUBLISHED: 2018, SOURCE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25
AUTHORS: Parman, Y; Coelho, T; Conceicao, I; Galan, L; Obici, L; Rousseau, A;
PUBLISHED: 2018, SOURCE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25
INDEXED IN: WOS
WOS20
TITLE: A novel TMEM240 variant in SCA21 without cognitive impairment Full Text
AUTHORS: Damasio, J; Alonso, I; Sardoeira, A; Brandao, AF; Dias, DC; Sequeiros, J; Barros, José ;
PUBLISHED: 2018, SOURCE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25
AUTHORS: Damasio, J; Alonso, I; Sardoeira, A; Brandao, AF; Dias, DC; Sequeiros, J; Barros, José ;
PUBLISHED: 2018, SOURCE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25
INDEXED IN: WOS
WOS