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; Jonsson, R; Audolfsson, G; Gudmundsson, L; Nawaz, MS; Olafsson, S; Gustafsson, O; Ingason, A; Unnsteinsdottir, U; Bjornsdottir, G; Walters, GB; Zervas, M; Oddsson, A; Gudbjartsson, DF; Steinberg, S; Stefansson, H; Stefansson, K; ...More
PUBLISHED: 2018, SOURCE: JOURNAL OF DENTAL RESEARCH, VOLUME: 97, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 36
IN MY: ORCID
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; Patrick Calvas; Giovanni Castelnovo; Thomas De Broucker; Marie Vidailhet; Antoine Moulignier; Robert T Ghnassia; Chantal Tallaksen; Cyril Mignot; Cyril Goizet; Isabelle Le Ber; Elisabeth Ollagnon Roman; Jean Pouget; Alexis Brice; Andrew Singleton; Alexandra Durr; Soraya Belarabi; Abdelmadjid Hamri; Meriem Tazir; Sylvia Boesch; Massimo Pandolfo; Urielle Ullmann; Laura Jardim; Velina Guergueltcheva; Ivalo Tournev; Bing Wen Soong; Olga Lucia Pedraza Linarès; Jørgen E Nielsen; Kirsten Svenstrup; Maha Zaki; Jean Philippe Azulay; Guillaume Banneau; Odile Boesfplug Tanguy; Andrea Burgo; Cécile Cazeneuve; Frédéric Darios; Christel Depienne; Charles Duyckaerts; Bertrand Fontaine; Jamilé Hazan; Michel Koenig; Cecilia Marelli; Karine N'guyen; Diana Rodriguez; Annie Sittler; Christophe Verny; Peter Bauer; Lüdger Schöls; Rebecca Schüle; Georgios Koutsis; Alexander Lossos; Antonella Antenora; Maria Teresa Bassi; Manuela Basso; Enrico Bertini; Alfredo Brusco; Carlo Casali; Giorgio Casari; Chiara Criscuolo; Alessandro Filla; Maria Lieto; Laura Orsi; Filippo M Santorelli; Enza Maria Valente; Marinela Vavla; Giovanni Vazza; André Megarbane; Ali Benomar; Richard Roxburgh; Anne Kjersti Erichsen; Isabel Alonso; Paula Coutinho; José Léal Loureiro; Jorge Sequeiros; Mustapha Salih; Vladimir S Kostic; Idoia Rouco Axpe; Samir Roumani; Berry Kremer; Willeke Van Roon Mom; Amir Boukhris; ...More
PUBLISHED: 2018, SOURCE: JAMA Neurology, VOLUME: 75, ISSUE: 5
INDEXED IN: Scopus CrossRef: 96
IN MY: ORCID
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
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
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID
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
INDEXED IN: Scopus WOS CrossRef: 19
IN MY: ORCID
36
TITLE: A Portuguese rapid-onset dystonia-parkinsonism case with atypical features  Full Text
AUTHORS: Sousa, AL; Alonso, I; Magalhaes, M;
PUBLISHED: 2017, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 38, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 8
IN MY: ORCID
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
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
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
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
INDEXED IN: Scopus WOS CrossRef: 53
IN MY: ORCID
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