31
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
32
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
34
TITLE: Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation  Full Text
AUTHORS: Guerreiro, R; Bras, J; Batista, S; Pires, P; Ribeiro, MH; Almeida, MR; Oliveira, C; Hardy, J; Santana, I;
PUBLISHED: 2016, SOURCE: GENES BRAIN AND BEHAVIOR, VOLUME: 15, ISSUE: 7
INDEXED IN: WOS
35
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
36
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
37
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
38
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
39
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
40
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
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