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TITLE: Ataxia-telangiectasia like: Una adolescente portadora de una nueva variante del gen MRE11A
AUTHORS: Aquino, J; Ribeiro, V; Alonso, I; Ramos, F; Vasconcelos, M;
PUBLISHED: 2017, SOURCE: Revista de Neurologia, VOLUME: 65, ISSUE: 3
INDEXED IN: Scopus
IN MY: ORCID
42
TITLE: Rare neurodegenerative diseases: Clinical and genetic update
AUTHORS: Matilla Dueñas, A; Corral Juan, M; Rodríguez Palmero Seuma, A; Vilas, D; Ispierto, L; Morais, S; Sequeiros, J; Alonso, I; Volpini, V; Serrano Munuera, C; Pintos Morell, G; Álvarez, R; Sánchez, I;
PUBLISHED: 2017, SOURCE: Advances in Experimental Medicine and Biology, VOLUME: 1031
INDEXED IN: Scopus CrossRef: 27
IN MY: ORCID
43
TITLE: Clinical validity of EDSS and SDMT in the detection of MS disease activity  Full Text
AUTHORS: Silva, A; Moreira, I; Samoes, R; Bettencourt, A; Boleixa, D; Martins, J; Duarte, S; Sousa, AP; Santos, E; Cavaco, S;
PUBLISHED: 2017, SOURCE: 7th Joint European-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ECTRIMS)-Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) in MULTIPLE SCLEROSIS JOURNAL, VOLUME: 23
INDEXED IN: WOS
44
TITLE: Accuracy of edss and SDMT in the detection of disease activity: Real-world clinical practice results  Full Text
AUTHORS: Martins Silva, AM; Bettencourt, A; Moreira, I; Martins, J; Samoes, R; Sousa, AP; Santos, E; Cavaco, S;
PUBLISHED: 2017, SOURCE: 23rd World Congress of Neurology (WCN) in JOURNAL OF THE NEUROLOGICAL SCIENCES, VOLUME: 381
INDEXED IN: WOS
45
TITLE: Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil  Full Text
AUTHORS: Gheno, TC; Furtado, GV; Saute, JAM; Donis, KC; Fontanari, AMV; Emmel, VE; Pedroso, JL; Barsottini, O; Godeiro Junior, C; van der Linden, H; Pereira, ET; Cintra, VP; Marques, W; de Castilhos, RM; Alonso, I; Sequeiros, J; Cornejo Olivas, M; Mazzetti, P; Leotti, VB; Jardim, LB; Saraiva Pereira, ML; ...More
PUBLISHED: 2017, SOURCE: EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 24, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: ORCID
46
TITLE: A recessive ataxia diagnosis algorithm for the next generation sequencing era  Full Text
AUTHORS: Mathilde Renaud; Christine Tranchant; Juan Vicente Torres Martin; Fanny Mochel; Matthis Synofzik; Bart van de Warrenburg; Massimo Pandolfo; Michel Koenig; Stefan A Kolb; Mathieu Anheim; Isabel Alonso; Hamid Azzedine; Clara Barbot; Matthieu Bereau; Sam Berkovic; Geneviéve Bernard; Laurence A Bindoff; Flavie Bompaire; Dominique Bonneau; Patrizia Bonneau; Kym M Boycott; Jose Bras; Bernard Brais; Karlla W Brigatti; Jillian Cameron; Teodora Chamova; Karine Choquet; Valérie Delague; Philippe Denizeau; Maria Teresa Dotti; Ghada El Euch; Salah A Elmalik; Antonio Federico; Torunn Fiskerstrand; Cynthia Gagnon; Rita Guerreiro; Claire Guissart; Sharon Hassin Baer; Ketil Riddervold Heimdal; Bénédicte Héron; Pirjo Isohanni; Luba Kalaydijeva; Toshitaka Kawarai; Jeanette Aimee Koht; Szu Chia Lai; Roberta La Piana; Claire Lecocq; Tarja Linnankivi; Tuula Lönnqvist; Chin Song Lu; Roderick Maas; Nizar Mahlaoui; Martial Mallaret; Cecilia Marelli; Caterina Mariotti; Jean Mathieu; Aurélie Méneret; Andrea Mignarri; Marie Lorraine Monin; Solveig Montaut; Lorenzo Nanetti; Yann Nadjar; Aurélia Poujois; Mustafa A Salih; Sergio Sousa; Philip Stanier; Dominique Stoppa Lyonnet; Kevin Strauss; Chantal Tallaksen; Mark Tarnopolsky; Nadége Tinant; Ivailo Tournev; Haluk Topaloglu; Kristin Nielsen Varhaug; France Woimant; Nicole I Wolf; Gilad Yahalom; Grace Yoon; Millie Young; ...More
PUBLISHED: 2017, SOURCE: Annals of Neurology, VOLUME: 82, ISSUE: 6
INDEXED IN: Scopus
IN MY: ORCID
48
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
INDEXED IN: Scopus WOS CrossRef: 37
IN MY: ORCID
49
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
INDEXED IN: Scopus WOS
IN MY: ORCID
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