21
TITLE: TBC1D24 Mutations in a Sibship with Multifocal Polymyocl2
AUTHORS: Adeline Ngoh; Jose Bras; Rita Guerreiro; Amy McTague; Joanne Ng; Esther Meyer; Kling K Chong; Stewart Boyd; Linda MacLellan; Martin Kirkpatrick; Manju A Kurian;
PUBLISHED: 2017, SOURCE: TREMOR AND OTHER HYPERKINETIC MOVEMENTS
INDEXED IN: WOS
22
TITLE: CSF Tau proteins reduce misdiagnosis of sporadic Creutzfeldt-Jakob disease suspected cases with inconclusive 14-3-3 result  Full Text
AUTHORS: Leito, MJ; Baldeiras, I; Almeida, MR; Ribeiro, MH; Santos, AC; Ribeiro, M; Tomas, J; Rocha, S; Santana, I; Oliveira, CR;
PUBLISHED: 2016, SOURCE: JOURNAL OF NEUROLOGY, VOLUME: 263, ISSUE: 9
INDEXED IN: WOS
23
TITLE: Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients  Full Text
AUTHORS: Gamze Guven; Ebba Lohmann; Jose Bras; Raphael R Gibbs; Hakan Gurvit; Basar Bilgic; Hasmet Hanagasi; Patrizia Rizzu; Peter Heutink; Murat Emre; Nihan Erginel Unaltuna; Walter Just; John Hardy; Andrew Singleton; Rita Guerreiro;
PUBLISHED: 2016, SOURCE: PLOS ONE, VOLUME: 11, ISSUE: 9
INDEXED IN: Scopus WOS
24
TITLE: Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation  Full Text
AUTHORS: Jose Bras; Ruth Djaldetti; Ana Margarida Alves; Simon Mead; Lee Darwent; Alberto Lleo; Jose L Luis Molinuevo; Rafael Blesa; Andrew Singleton; John Hardy; Jordi Clarimon; Rita Guerreiro;
PUBLISHED: 2016, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 46
INDEXED IN: WOS
25
TITLE: Aeromonas piscicola AH-3 expresses an extracellular collagenase with cytotoxic properties  Full Text
AUTHORS: Duarte, AS; Cavaleiro, E; Pereira, C; Merino, S; Esteves, AC; Duarte, EP; Tomas, JM; Correia, AC;
PUBLISHED: 2015, SOURCE: LETTERS IN APPLIED MICROBIOLOGY, VOLUME: 60, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 5
26
TITLE: Mutant ADA2 in Vasculopathies
AUTHORS: Jose Bras; Rita Guerreiro; Gustavo C Santo;
PUBLISHED: 2014, SOURCE: NEW ENGLAND JOURNAL OF MEDICINE, VOLUME: 371, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 61
27
TITLE: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers  Full Text
AUTHORS: Niccolo E Mencacci; Ioannis U Isaias; Martin M Reich; Christos Ganos; Vincent Plagnol; James M Polke; Jose Bras; Joshua Hersheson; Maria Stamelou; Alan M Pittman; Alastair J Noyce; Kin Y Mok; Thomas Opladen; Erdmute Kunstmann; Sybille Hodecker; Alexander Muenchau; Jens Volkmann; Samuel Samnick; Katie Sidle; Tina Nanji; Mary G Sweeney; Henry Houlden; Amit Batla; Anna L Zecchinelli; Gianni Pezzoli; Giorgio Marotta; Andrew Lees; Paulo Alegria; Paul Krack; Florence Cormier Dequaire; Suzanne Lesage; Alexis Brice; Peter Heutink; Thomas Gasser; Steven J Lubbe; Huw R Morris; Pille Taba; Sulev Koks; Elisa Majounie; Raphael Gibbs; Andrew Singleton; John Hardy; Stephan Klebe; Kailash P Bhatia; Nicholas W Wood; ...More
PUBLISHED: 2014, SOURCE: BRAIN, VOLUME: 137, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 72
28
TITLE: Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia-like Syndrome Without Bone Involvement
AUTHORS: Rita Joao Guerreiro; Ebba Lohmann; Jose Miguel Bras; Jesse Raphael Gibbs; Jonathan D Rohrer; Nicole Gurunlian; Burcu Dursun; Basar Bilgic; Hasmet Hanagasi; Hakan Gurvit; Murat Emre; Andrew Singleton; John Hardy;
PUBLISHED: 2013, SOURCE: JAMA NEUROLOGY, VOLUME: 70, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 148
29
TITLE: Genetic Analysis of Inherited Leukodystrophies Genotype-Phenotype Correlations in the CSF1R Gene
AUTHORS: Rita Guerreiro; Eleanna Kara; Isabelle Le Ber; Jose Bras; Jonathan D Rohrer; Ricardo Taipa; Tammaryn Lashley; Celine Dupuits; Nicole Gurunlian; Fanny Mochel; Jason D Warren; Didier Hannequin; Frederic Sedel; Christel Depienne; Agnes Camuzat; Veronique Golfier; Foucaud Du Boisgueheneuc; Lucia Schottlaender; Nick C Fox; Jonathan Beck; Simon Mead; Martin N Rossor; John Hardy; Tamas Revesz; Alexis Brice; Henry Houlden; ...More
PUBLISHED: 2013, SOURCE: JAMA NEUROLOGY, VOLUME: 70, ISSUE: 7
INDEXED IN: Scopus WOS
30
TITLE: Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP  Full Text
AUTHORS: Rita Joao Guerreiro; Miguel Baquero; Rafael Blesa; Merce Boada; Jose Miguel Bras; Maria J Bullido; Ana Calado; Richard Crook; Carla Ferreira; Ana Frank; Teresa Gomez Isla; Isabel Hernandez; Alberto Lleo; Alvaro Machado; Pablo Martinez Lage; Jose Masdeu; Laura Molina Porcel; Jose L Molinuevo; Pau Pastor; Jordi Perez Tur; Rute Relvas; Catarina Resende Oliveira ; Maria Helena Ribeiro; Ekaterina Rogaeva; Alfredo Sa; Lluis Samaranch; Raquel Sanchez Valle; Isabel Santana ; Lluis Tarraga; Fernando Valdivieso; Andrew Singleton; John Hardy; Jordi Clarimon; ...More
PUBLISHED: 2010, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 31, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 97
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