21
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
22
TITLE: Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series  Full Text
AUTHORS: Natalie S Ryan; Jennifer M Nicholas; Philip S J Weston; Yuying Y Liang; Tammaryn Lashley; Rita Guerreiro; Gary Adamson; Janna Kenny; Jon Beck; Lucia Chavez Gutierrez; Bart de Strooper; Tamas Revesz; Janice Holton; Simon Mead; Martin N Rossor; Nick C Fox;
PUBLISHED: 2016, SOURCE: LANCET NEUROLOGY, VOLUME: 15, ISSUE: 13
INDEXED IN: Scopus WOS
23
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
24
TITLE: Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4
AUTHORS: Jose Bras; Isabel Alonso; Clara Barbot; Maria Manuela Costa; Lee Darwent; Tatiana Orme; Jorge Sequeiros; John Hardy; Paula Coutinho; Rita Guerreiro;
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 96, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 40
25
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
26
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
27
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
28
TITLE: NOTCH3 Variants and Risk of Ischemic Stroke  Full Text
AUTHORS: Owen A Ross; Alexandra I Soto Ortolaza; Michael G Heckman; Christophe Verbeeck; Daniel J Serie; Sruti Rayaprolu; Stephen S Rich; Michael A Nalls; Andrew Singleton; Rita Guerreiro; Emma Kinsella; Zbigniew K Wszolek; Thomas G Brott; Robert D Brown; Bradford B Worrall; James F Meschia;
PUBLISHED: 2013, SOURCE: PLOS ONE, VOLUME: 8, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 18
29
TITLE: TREM2 Variants in Alzheimer's Disease
AUTHORS: Rita Guerreiro; Aleksandra Wojtas; Jose Bras; Minerva Carrasquillo; Ekaterina Rogaeva; Elisa Majounie; Carlos Cruchaga; Celeste Sassi; John S K Kauwe; Michelle K Lupton; Mina Ryten; Kristelle Brown; James Lowe; Perry G Ridge; Monia B Hammer; Yosuke Wakutani; Petroula Proitsi; Stephen Newhouse; Ebba Lohmann; Nihan Erginel Unaltuna; Christopher Medway; Hasmet Hanagasi; Claire Troakes; Hakan Gurvit; Basar Bilgic; Safa Al Sarraj; Bruno Benitez; Breanna Cooper; David Carrell; Murat Emre; Fanggeng G Zou; Li Ma; Melissa E Murray; Dennis W Dickson; Steven Younkin; Lilinaz Hazrati; Ronald C Petersen; Christopher D Corcoran; Yefei F Cai; Catarina Oliveira; Maria Helena Ribeiro; Isabel Santana; JoAnn T Tschanz; Raphael R Gibbs; Maria C Norton; Iwona Kloszewska; Patrizia Mecocci; Hilkka Soininen; Magda Tsolaki; Bruno Vellas; Ronald G Munger; David M A Mann; Stuart Pickering Brown; Simon Lovestone; Jonathan Beck; Simon Mead; John Collinge; Linda Parsons; Jennifer Pocock; John C Morris; Tamas Revesz; Tammaryn Lashley; Nick C Fox; Martin N Rossor; Benjamin Grenier Boley; Celine Bellenguez; Valentina Moskvina; Rebecca Sims; Denise Harold; Julie Williams; Jean Charles Lambert; Philippe Amouyel; Neill Graff Radford; Alison Goate; Rosa Rademakers; Kevin Morgan; John Powell; Peter St George Hyslop; Andrew Singleton; John Hardy; ...More
PUBLISHED: 2013, SOURCE: NEW ENGLAND JOURNAL OF MEDICINE, VOLUME: 368, ISSUE: 2
INDEXED IN: WOS CrossRef: 911
30
TITLE: Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients  Full Text
AUTHORS: Ebba Lohmann; Rita J Guerreiro; Nihan Erginel Unaltuna; Nicole Gurunlian; Basar Bilgic; Hakan Gurvit; Hasmet A Hanagasi; Nga Luu; Murat Emre; Andrew Singleton;
PUBLISHED: 2012, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 33, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 11
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