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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
32
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
33
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
34
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
35
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
36
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
37
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
38
TITLE: Network analysis and wine routes: the case of the Bairrada Wine Route
AUTHORS: Jose Miguel Bras; Carlos Costa; Dimitrios Buhalis;
PUBLISHED: 2010, SOURCE: SERVICE INDUSTRIES JOURNAL, VOLUME: 30, ISSUE: 10
INDEXED IN: Scopus WOS
39
TITLE: Genome-wide association study reveals genetic risk underlying Parkinson's disease  Full Text
AUTHORS: Javier Simon Sanchez; Claudia Schulte; Jose M Bras; Manu Sharma; Raphael R Gibbs; Daniela Berg; Coro Paisan Ruiz; Peter Lichtner; Sonja W Scholz; Dena G Hernandez; Rejko Krueger; Monica Federoff; Christine Klein; Alison Goate; Joel Perlmutter; Michael Bonin; Michael A Nalls; Thomas Illig; Christian Gieger; Henry Houlden; Michael Steffens; Michael S Okun; Brad A Racette; Mark R Cookson; Kelly D Foote; Hubert H Fernandez; Bryan J Traynor; Stefan Schreiber; Sampath Arepalli; Ryan Zonozi; Katrina Gwinn; Marcel van der Brug; Grisel Lopez; Stephen J Chanock; Arthur Schatzkin; Yikyung Park; Albert Hollenbeck; Jianjun J Gao; Xuemei M Huang; Nick W Wood; Delia Lorenz; Guenther Deuschl; Honglei L Chen; Olaf Riess; John A Hardy; Andrew B Singleton; Thomas Gasser; ...More
PUBLISHED: 2009, SOURCE: NATURE GENETICS, VOLUME: 41, ISSUE: 12
INDEXED IN: Scopus WOS
40
TITLE: Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal  Full Text
AUTHORS: Jose Bras; Coro Paisan Ruiz; Rita Guerreiro; Maria Helena Ribeiro; Ana Morgadinho; Cristina Januario; Ellen Sidransky; Catarina Oliveira ; Andrew Singleton;
PUBLISHED: 2009, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 30, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 50
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