ProfileOfResearchers

TITLE: TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients Full Text
AUTHORS: Foddis, Marco; Blumenau, Sonja; Holtgrewe, Manuel; Paquette, Kimberly; Westra, Kaitlyn; Alonso, Isabel; Macario, Maria do Carmo; Morgadinho, Ana Sofia; Velon, Ana Graca; Santo, Gustavo; Santana, Isabel; Monkare, Saana; Kuuluvainen, Liina; Schleutker, Johanna; Poyhonen, Minna; Myllykangas, Liisa; Pavlovic, Aleksandra; Kostic, Vladimir; Dobricic, Valerija; Lohmann, Ebba; Hanagasi, Hasmet; Santos, Mariana; Guven, Gamze; Bilgic, Basar; Bras, Jose; Beule, Dieter; Dirnagl, Ulrich; Guerreiro, Rita; Sassi, Celeste; ...More
PUBLISHED: 2023, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 123

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TITLE: PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice Full Text
AUTHORS: Messerschmidt, C; Foddis, M; Blumenau, S; Muller, S; Bentele, K; Holtgrewe, M; Kun Rodrigues, C; Alonso, I; Macario, MD; Morgadinho, AS; Velon, AG; Santo, G; Santana, I; Monkare, S; Kuuluvainen, L; Schleutker, J; Poyhonen, M; Myllykangas, L; Senatore, A; Berchtold, D; Winek, K; Meisel, A; Pavlovic, A; Kostic, V; Dobricic, V; Lohmann, E; Hanagasi, H; Guven, G; Bilgic, B; Bras, J; Guerreiro, R; Beule, D; Dirnagl, U; Sassi, C; ...More
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1

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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

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TITLE: A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy Full Text
AUTHORS: Mikko Muona; Samuel F Berkovic; Leanne M Dibbens; Karen L Oliver; Snezana Maljevic; Marta A Bayly; Tarja Joensuu; Laura Canafoglia; Silvana Franceschetti; Roberto Michelucci; Salla Markkinen; Sarah E Heron; Michael S Hildebrand; Eva Andermann; Frederick Andermann; Antonio Gambardella; Paolo Tinuper; Laura Licchetta; Ingrid E Scheffer; Chiara Criscuolo; Alessandro Filla; Edoardo Ferlazzo; Jamil Ahmad; Adeel Ahmad; Betul Baykan; Edith Said; Meral Topcu; Patrizia Riguzzi; Mary D King; Cigdem Ozkara; Danielle M Andrade; Bernt A Engelsen; Arielle Crespel; Matthias Lindenau; Ebba Lohmann; Veronica Saletti; João Massano ; Michael Privitera; Alberto J Espay; Birgit Kauffmann; Michael Duchowny; Rikke S Moller; Rachel Straussberg; Zaid Afawi; Bruria Ben Zeev; Kaitlin E Samocha; Mark J Daly; Steven Petrou; Holger Lerche; Aarno Palotie; Anna Elina Lehesjoki; ...More
PUBLISHED: 2015, SOURCE: NATURE GENETICS, VOLUME: 47, ISSUE: 1

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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

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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

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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

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