Ebba Lohmann
AuthID: R-00F-CYR
1
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; ...More
PUBLISHED: 2023, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 123
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; ...More
PUBLISHED: 2023, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 123
INDEXED IN: Scopus WOS
2
TITLE: Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia
AUTHORS: Gamze Guven; Briar Bilgic; Zeynep Tufekcioglu; Nihan Erginel Unaltuna; Hasmet Hanagasi; Hakan Gurvit; Andrew Singleton; John Hardy; Murat Emre; Cagri Gulec; Jose Bras; Rita Guerreiro; Ebba Lohmann;
PUBLISHED: 2019, SOURCE: JOURNAL OF ALZHEIMERS DISEASE, VOLUME: 67, ISSUE: 1
AUTHORS: Gamze Guven; Briar Bilgic; Zeynep Tufekcioglu; Nihan Erginel Unaltuna; Hasmet Hanagasi; Hakan Gurvit; Andrew Singleton; John Hardy; Murat Emre; Cagri Gulec; Jose Bras; Rita Guerreiro; Ebba Lohmann;
PUBLISHED: 2019, SOURCE: JOURNAL OF ALZHEIMERS DISEASE, VOLUME: 67, ISSUE: 1
INDEXED IN: Scopus WOS
3
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
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
4
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; ...More
PUBLISHED: 2015, SOURCE: NATURE GENETICS, VOLUME: 47, ISSUE: 1
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; ...More
PUBLISHED: 2015, SOURCE: NATURE GENETICS, VOLUME: 47, ISSUE: 1
5
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
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
6
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; ...More
PUBLISHED: 2013, SOURCE: NEW ENGLAND JOURNAL OF MEDICINE, VOLUME: 368, ISSUE: 2
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; ...More
PUBLISHED: 2013, SOURCE: NEW ENGLAND JOURNAL OF MEDICINE, VOLUME: 368, ISSUE: 2
7
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
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