Isabel Conceição Moreira Pereira Alonso
AuthID: R-000-678
51
TITLE: Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M) Full Text
AUTHORS: Diana Santos; Teresa Coelho; Miguel Alves Ferreira; Jorge Sequeiros; Denisa Mendonca ; Isabel Alonso; Carolina Lemos ; Alda Sousa;
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 5
AUTHORS: Diana Santos; Teresa Coelho; Miguel Alves Ferreira; Jorge Sequeiros; Denisa Mendonca ; Isabel Alonso; Carolina Lemos ; Alda Sousa;
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 5
52
TITLE: EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH) Full Text
AUTHORS: Porto, G; Brissot, P; Swinkels, DW; Zoller, H; Kamarainen, O; Patton, S; Alonso, I; Morris, M; Keeney, S;
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 4
AUTHORS: Porto, G; Brissot, P; Swinkels, DW; Zoller, H; Kamarainen, O; Patton, S; Alonso, I; Morris, M; Keeney, S;
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 4
INDEXED IN: 
Scopus 
WOS
Scopus WOS IN MY: 
ORCID
ORCID53
TITLE: Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-beta and Notch Signaling Pathways as Modifiers of CACNAIA Full Text
AUTHORS: Maria da Conceicao Pereira; Sara Morais; Jorge Sequeiros; Isabel Alonso;
PUBLISHED: 2016, SOURCE: ASN NEURO, VOLUME: 8, ISSUE: 2
AUTHORS: Maria da Conceicao Pereira; Sara Morais; Jorge Sequeiros; Isabel Alonso;
PUBLISHED: 2016, SOURCE: ASN NEURO, VOLUME: 8, ISSUE: 2
54
TITLE: DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology Full Text
AUTHORS: Ricardo Taipa; Conceicao Pereira; Ines Reis; Isabel Alonso; Antonio Bastos Lima; Manuel Melo Pires; Marina Magalhaes;
PUBLISHED: 2016, SOURCE: BRAIN, VOLUME: 139, ISSUE: 6
AUTHORS: Ricardo Taipa; Conceicao Pereira; Ines Reis; Isabel Alonso; Antonio Bastos Lima; Manuel Melo Pires; Marina Magalhaes;
PUBLISHED: 2016, SOURCE: BRAIN, VOLUME: 139, ISSUE: 6
55
TITLE: LOW LEVELS OF CD10, CD11B, CD13, AND CD16 EXPRESSION IN THE PERIPHERAL BLOOD NEUTROPHILS FROM PATIENTS WITH LOWER RISK MYELODYSPLASTIC SYNDROMES Full Text
AUTHORS: Moreira, C; Aires, A; Cabral, R; Goncalves, M; Jorge, AS; Mesquita, V; Oliveira, L; Santos, M; Mota, A; Goncalves, C; Pinho, L; Xavier, L; Coutinho, J; Freitas, I; Lau, C; Teixeira, MDA; Lima, M;
PUBLISHED: 2016, SOURCE: 21st Congress of the European-Hematology-Association in HAEMATOLOGICA, VOLUME: 101
AUTHORS: Moreira, C; Aires, A; Cabral, R; Goncalves, M; Jorge, AS; Mesquita, V; Oliveira, L; Santos, M; Mota, A; Goncalves, C; Pinho, L; Xavier, L; Coutinho, J; Freitas, I; Lau, C; Teixeira, MDA; Lima, M;
PUBLISHED: 2016, SOURCE: 21st Congress of the European-Hematology-Association in HAEMATOLOGICA, VOLUME: 101
INDEXED IN: WOS
WOS56
TITLE: Epidemiology of myasthenia gravis in Northern Portugal: Frequency estimates and clinical epidemiological distribution of cases. Myasthenia Gravis Epidemiology Full Text
AUTHORS: Ernestina Santos; Ester Coutinho; Isabel Moreira; Ana Martins Silva ; Dina Lopes; Henrique Costa; Fernando Silveira; Goreti Nadais; Hugo Morais; Joao Martins; Maria Ceu Branco; Andreia Veiga; Rosa Santos Silva; Augusto Ferreira; Filipa Sousa; Marta Freijo; Ilda Matos; Rui Andre; Luis Negrao; Carla Fraga; ...More
PUBLISHED: 2016, SOURCE: MUSCLE & NERVE, VOLUME: 54, ISSUE: 3
AUTHORS: Ernestina Santos; Ester Coutinho; Isabel Moreira; Ana Martins Silva ; Dina Lopes; Henrique Costa; Fernando Silveira; Goreti Nadais; Hugo Morais; Joao Martins; Maria Ceu Branco; Andreia Veiga; Rosa Santos Silva; Augusto Ferreira; Filipa Sousa; Marta Freijo; Ilda Matos; Rui Andre; Luis Negrao; Carla Fraga; ...More
PUBLISHED: 2016, SOURCE: MUSCLE & NERVE, VOLUME: 54, ISSUE: 3
57
TITLE: Timed 25-foot walk instead of EDSS: does it make difference defining NEDA? Full Text
AUTHORS: Martins, J; Samoes, R; Moreira, I; Bettencourt, A; Santos, E; Martins Silva, AM;
PUBLISHED: 2016, SOURCE: 32nd Congress of the European-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ECTRIMS) in MULTIPLE SCLEROSIS JOURNAL, VOLUME: 22
AUTHORS: Martins, J; Samoes, R; Moreira, I; Bettencourt, A; Santos, E; Martins Silva, AM;
PUBLISHED: 2016, SOURCE: 32nd Congress of the European-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ECTRIMS) in MULTIPLE SCLEROSIS JOURNAL, VOLUME: 22
INDEXED IN: WOS
WOS58
TITLE: Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD
AUTHORS: Sara Morais; Rita Bastos Ferreira; Jorge Sequeiros; Isabel Alonso;
PUBLISHED: 2016, SOURCE: Neurology: Genetics, VOLUME: 2, ISSUE: 3
AUTHORS: Sara Morais; Rita Bastos Ferreira; Jorge Sequeiros; Isabel Alonso;
PUBLISHED: 2016, SOURCE: Neurology: Genetics, VOLUME: 2, ISSUE: 3
59
TITLE: Haplotype Analysis of the 4p16.3 Region in Portuguese Families With Huntington's Disease Full Text
AUTHORS: Eliana Marisa Ramos; Tammy Gillis; Jayalakshmi S Mysore; Jong Min Lee; Martin Goegele; Yuri D'Elia; Irene Pichler; Jorge Sequeiros; Peter P Pramstaller; James F Gusella; Marcy E MacDonald; Isabel Alonso;
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, VOLUME: 168, ISSUE: 2
AUTHORS: Eliana Marisa Ramos; Tammy Gillis; Jayalakshmi S Mysore; Jong Min Lee; Martin Goegele; Yuri D'Elia; Irene Pichler; Jorge Sequeiros; Peter P Pramstaller; James F Gusella; Marcy E MacDonald; Isabel Alonso;
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, VOLUME: 168, ISSUE: 2
60
TITLE: Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism Full Text
AUTHORS: Isabel Moreira; Rita Bastos Ferreira; Joao Silva; Cheila Ribeiro; Isabel Alonso; Joao Chaves;
PUBLISHED: 2015, SOURCE: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, VOLUME: 25
AUTHORS: Isabel Moreira; Rita Bastos Ferreira; Joao Silva; Cheila Ribeiro; Isabel Alonso; Joao Chaves;
PUBLISHED: 2015, SOURCE: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, VOLUME: 25
