11
TITLE: The role of TREM2 in Alzheimer's disease and other neurodegenerative disorders  Full Text
AUTHORS: Susana Carmona; Kathleen Zahs; Elizabeth Wu; Kelly Dakin; Jose Bras; Rita Guerreiro;
PUBLISHED: 2018, SOURCE: LANCET NEUROLOGY, VOLUME: 17, ISSUE: 8
INDEXED IN: Scopus WOS
12
TITLE: The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions
AUTHORS: Tatiana Orme; Rita Guerreiro; Jose Bras;
PUBLISHED: 2018, SOURCE: CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, VOLUME: 18, ISSUE: 10
INDEXED IN: Scopus WOS
13
TITLE: AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria
AUTHORS: Susana Carmona; Clara Marecos; Marta Amorim; Ana C Ferreira; Carla Conceicao; Jose Bras; Sofia T Duarte; Rita Guerreiro;
PUBLISHED: 2018, SOURCE: NEUROLOGY-GENETICS, VOLUME: 4, ISSUE: 6
INDEXED IN: WOS
14
TITLE: Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease
AUTHORS: Cornelis Blauwendraat; Xylena Reed; Demis A Kia; Ziv Gan Or; Suzanne Lesage; Lasse Pihistrom; Rita Guerreiro; Raphael R Gibbs; Marya Sabir; Sarah Ahmed; Jinhui H Ding; Roy N Alcalay; Sharon Hassin Baer; Alan M Pittman; Janet Brooks; Connor Edsall; Dena G Hernandez; Sun Ju Chung; Stefano Goldwurm; Mathias Toft; Claudia Schulte; Jose Bras; Nicholas W Wood; Alexis Brice; Huw R Morris; Sonja W Scholz; Mike A Nalls; Andrew B Singleton; Mark R Cookson; ...More
PUBLISHED: 2018, SOURCE: JAMA NEUROLOGY, VOLUME: 75, ISSUE: 11
INDEXED IN: Scopus WOS
15
TITLE: CLN8 disease caused by large genomic deletions
AUTHORS: Clare Beesley; Rita J Guerreiro; Jose T Bras; Ruth E Williams; Ana Lia Taratuto; Christin Eltze; Sara E Mole;
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 5, ISSUE: 1
INDEXED IN: Scopus WOS
16
TITLE: Multi-infarct dementia of Swedish type is caused by a 3 ' UTR mutation of COL4A1  Full Text
AUTHORS: Maija Siitonen; Anne Borjesson Hanson; Minna Poyhonen; Ari Ora; Petra Pasanen; Jose Bras; Silke Kern; Jurgen Kern; Oluf Andersen; Horia Stanescu; Robert Kleta; Marc Baumann; Rajesh Kalaria; Hannu Kalimo; Andy Singleton; John Hardy; Matti Viitanen; Liisa Myllykangas; Rita Guerreiro;
PUBLISHED: 2017, SOURCE: BRAIN, VOLUME: 140, ISSUE: 5
INDEXED IN: Scopus WOS
17
TITLE: TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus
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, VOLUME: 7
INDEXED IN: Scopus WOS
18
TITLE: Mutations in TYROBP are not a common cause of dementia in a Turkish cohort
AUTHORS: Lee Darwent; Susana Carmona; Ebba Lohmann; Gamze Guven; Celia Kun Rodrigues; Basar Bilgic; Hasmet Hanagasi; Hakan Gurvit; Nihan Erginel Unaltuna; Meltem Pak; John Hardy; Andrew Singleton; Jose Bras; Rita Guerreiro;
PUBLISHED: 2017, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 58
INDEXED IN: WOS
19
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
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