Isabel Conceição Moreira Pereira Alonso
AuthID: R-000-678
31
TITLE: Rare and Common Variants Conferring Risk of Tooth Agenesis
AUTHORS: Jonsson, L; Magnusson, TE; Thordarson, A; Jonsson, T; Geller, F; Feenstra, B; Melbye, M; Nohr, EA; Vucic, S; Dhamo, B; Rivadeneira, F; Ongkosuwito, EM; Wolvius, EB; Leslie, EJ; Marazita, ML; Howe, BJ; Uribe, LMM; Alonso, I; Santos, M; Pinho, T; ...More
PUBLISHED: 2018, SOURCE: JOURNAL OF DENTAL RESEARCH, VOLUME: 97, ISSUE: 5
AUTHORS: Jonsson, L; Magnusson, TE; Thordarson, A; Jonsson, T; Geller, F; Feenstra, B; Melbye, M; Nohr, EA; Vucic, S; Dhamo, B; Rivadeneira, F; Ongkosuwito, EM; Wolvius, EB; Leslie, EJ; Marazita, ML; Howe, BJ; Uribe, LMM; Alonso, I; Santos, M; Pinho, T; ...More
PUBLISHED: 2018, SOURCE: JOURNAL OF DENTAL RESEARCH, VOLUME: 97, ISSUE: 5
32
TITLE: Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes
AUTHORS: Marie Coutelier; Monia B Hammer; Giovanni Stevanin; Marie Lorraine Monin; Claire Sophie Davoine; Fanny Mochel; Pierre Labauge; Claire Ewenczyk; Jinhui Ding; Raphael R Gibbs; Didier Hannequin; Judith Melki; Annick Toutain; Vincent Laugel; Sylvie Forlani; Perrine Charles; Emmanuel Broussolle; Stéphane Thobois; Alexandra Afenjar; Mathieu Anheim; ...More
PUBLISHED: 2018, SOURCE: JAMA Neurology, VOLUME: 75, ISSUE: 5
AUTHORS: Marie Coutelier; Monia B Hammer; Giovanni Stevanin; Marie Lorraine Monin; Claire Sophie Davoine; Fanny Mochel; Pierre Labauge; Claire Ewenczyk; Jinhui Ding; Raphael R Gibbs; Didier Hannequin; Judith Melki; Annick Toutain; Vincent Laugel; Sylvie Forlani; Perrine Charles; Emmanuel Broussolle; Stéphane Thobois; Alexandra Afenjar; Mathieu Anheim; ...More
PUBLISHED: 2018, SOURCE: JAMA Neurology, VOLUME: 75, ISSUE: 5
33
TITLE: Topical timolol for the treatment of pyoderma gangrenosum
AUTHORS: Moreira, C; Lopes, S; Cruz, MJ; Azevedo, F;
PUBLISHED: 2017, SOURCE: BMJ Case Reports, VOLUME: 2017
AUTHORS: Moreira, C; Lopes, S; Cruz, MJ; Azevedo, F;
PUBLISHED: 2017, SOURCE: BMJ Case Reports, VOLUME: 2017
INDEXED IN: Scopus
34
TITLE: Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset
AUTHORS: Diana Santos; Teresa Coelho; Miguel Alves Ferreira; Jorge Sequeiros; Denisa Mendonca ; Isabel Alonso; Carolina Lemos ; Alda Sousa;
PUBLISHED: 2017, SOURCE: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, VOLUME: 4, ISSUE: 2
AUTHORS: Diana Santos; Teresa Coelho; Miguel Alves Ferreira; Jorge Sequeiros; Denisa Mendonca ; Isabel Alonso; Carolina Lemos ; Alda Sousa;
PUBLISHED: 2017, SOURCE: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, VOLUME: 4, ISSUE: 2
35
TITLE: Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice
AUTHORS: Neto, JL; Lee, JM; Afridi, A; Gillis, T; Guide, JR; Dempsey, S; Lager, B; Alonso, I; Wheeler, VC; Pinto, RM;
PUBLISHED: 2017, SOURCE: GENETICS, VOLUME: 205, ISSUE: 2
AUTHORS: Neto, JL; Lee, JM; Afridi, A; Gillis, T; Guide, JR; Dempsey, S; Lager, B; Alonso, I; Wheeler, VC; Pinto, RM;
PUBLISHED: 2017, SOURCE: GENETICS, VOLUME: 205, ISSUE: 2
37
TITLE: Hereditary spastic paraplegia type 11 and 22q11 duplication syndrome in a single family Full Text
AUTHORS: Martins, J; Martins, R; Silva, J; Alonso, I; Pinto Basto, JP; Rendeiro, P; Leal Loureiro, JL; Magalhaes, M;
PUBLISHED: 2017, SOURCE: 3rd Congress of the European-Academy-of-Neurology in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 24
AUTHORS: Martins, J; Martins, R; Silva, J; Alonso, I; Pinto Basto, JP; Rendeiro, P; Leal Loureiro, JL; Magalhaes, M;
PUBLISHED: 2017, SOURCE: 3rd Congress of the European-Academy-of-Neurology in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 24
INDEXED IN: WOS
38
TITLE: IL1B rs16944 and depression symptoms in multiple sclerosis patients Full Text
AUTHORS: Leal, B; Bettencourt, A; Ferreira, AM; Carvalho, C; Moreira, I; Costa, PP ; Martins M Da Silva; Cavaco, S; Martins M Da Silva;
PUBLISHED: 2017, SOURCE: 3rd Congress of the European-Academy-of-Neurology in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 24
AUTHORS: Leal, B; Bettencourt, A; Ferreira, AM; Carvalho, C; Moreira, I; Costa, PP ; Martins M Da Silva; Cavaco, S; Martins M Da Silva;
PUBLISHED: 2017, SOURCE: 3rd Congress of the European-Academy-of-Neurology in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 24
INDEXED IN: WOS
39
TITLE: Charcot-Marie-Tooth 4J with conduction blocks Full Text
AUTHORS: Martins, J; Martins, M; Alonso, I; Ferreira, R; Melo Pires, MM;
PUBLISHED: 2017, SOURCE: 3rd Congress of the European-Academy-of-Neurology in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 24
AUTHORS: Martins, J; Martins, M; Alonso, I; Ferreira, R; Melo Pires, MM;
PUBLISHED: 2017, SOURCE: 3rd Congress of the European-Academy-of-Neurology in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 24
INDEXED IN: WOS
40
TITLE: Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias Full Text
AUTHORS: Morais, S; Raymond, L; Mairey, M; Coutinho, P; Brandao, E; Ribeiro, P; Loureiro, JL; Sequeiros, J; Brice, A; Alonso, I; Stevanin, G;
PUBLISHED: 2017, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 25, ISSUE: 11
AUTHORS: Morais, S; Raymond, L; Mairey, M; Coutinho, P; Brandao, E; Ribeiro, P; Loureiro, JL; Sequeiros, J; Brice, A; Alonso, I; Stevanin, G;
PUBLISHED: 2017, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 25, ISSUE: 11