Isabel Conceição Moreira Pereira Alonso
AuthID: R-000-678
21
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
WOS22
TITLE: Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism
AUTHORS: Santos Silva, R ; Rosario, M; Grangeia, A ; Costa, C ; Castro Correia, C ; Alonso, I; Leao, M; Fontoura, M ;
PUBLISHED: 2019, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 32, ISSUE: 11
AUTHORS: Santos Silva, R ; Rosario, M; Grangeia, A ; Costa, C ; Castro Correia, C ; Alonso, I; Leao, M; Fontoura, M ;
PUBLISHED: 2019, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 32, ISSUE: 11
24
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
25
TITLE: Clinical spectrum of C9orf72 expansion in a cohort of Huntington's disease phenocopies Full Text
AUTHORS: Martins, Jorge M. ; Damasio, J; Mendes, A; Vila Cha, N; Alves, JE; Ramos, C; Cavaco, S; Silva, J; Alonso, I; Magalhaes, M;
PUBLISHED: 2018, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 39, ISSUE: 4
AUTHORS: Martins, Jorge M. ; Damasio, J; Mendes, A; Vila Cha, N; Alves, JE; Ramos, C; Cavaco, S; Silva, J; Alonso, I; Magalhaes, M;
PUBLISHED: 2018, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 39, ISSUE: 4
26
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
27
TITLE: GNAO1: Un nuevo gen a considerar en la distonía temprana de la infancia
AUTHORS: Marecos, C; Duarte, S; Alonso, I; Calado, E; Moreira, A;
PUBLISHED: 2018, SOURCE: Revista de Neurologia, VOLUME: 66, ISSUE: 9
AUTHORS: Marecos, C; Duarte, S; Alonso, I; Calado, E; Moreira, A;
PUBLISHED: 2018, SOURCE: Revista de Neurologia, VOLUME: 66, ISSUE: 9
INDEXED IN: 
Scopus
Scopus IN MY: 
ORCID
ORCID28
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
WOS29
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
WOS30
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