Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Marnie Kopp"'
Autor:
Claire S Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Rastam, Henrik Anckarsäter, Gudrun Nygren, I Carina Gillberg, Jonas Melke, Roberto Toro, Beatrice Regnault, Fabien Fauchereau, Oriane Mercati, Nathalie Lemière, David Skuse, Martin Poot, Richard Holt, Anthony P Monaco, Irma Järvelä, Katri Kantojärvi, Raija Vanhala, Sarah Curran, David A Collier, Patrick Bolton, Andreas Chiocchetti, Sabine M Klauck, Fritz Poustka, Christine M Freitag, Regina Waltes, Marnie Kopp, Eftichia Duketis, Elena Bacchelli, Fiorella Minopoli, Liliana Ruta, Agatino Battaglia, Luigi Mazzone, Elena Maestrini, Ana F Sequeira, Barbara Oliveira, Astrid Vicente, Guiomar Oliveira, Dalila Pinto, Stephen W Scherer, Diana Zelenika, Marc Delepine, Mark Lathrop, Dominique Bonneau, Vincent Guinchat, Françoise Devillard, Brigitte Assouline, Marie-Christine Mouren, Marion Leboyer, Christopher Gillberg, Tobias M Boeckers, Thomas Bourgeron
Publikováno v:
PLoS Genetics, Vol 8, Iss 2, p e1002521 (2012)
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects
Externí odkaz:
https://doaj.org/article/03767000fd224a4884ce09193bcfd6c7
Autor:
Thorsten M. Kranz, Marnie Kopp, Christine M. Freitag, Michael Sachse, Eftichia Duketis, Regina Waltes, Katharina Görgen, Franziska Degenhardt, Andreas G. Chiocchetti, Tomasz A. Jarczok, Jobst Meyer
Publikováno v:
Autism Research. 9:1036-1045
Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3831c78721f88971030862aafdcc19f2
https://doi.org/10.1002/aur.1597
https://doi.org/10.1002/aur.1597
Autor:
Silke Kauferstein, Tina Jenewein, Markus A. Rothschild, Damir Erkapic, Rainer König, Nadine Kiehne, Stephanie Biel, Marnie Kopp, Thomas Neumann
Publikováno v:
Forensic Science International. 229:122-127
A B S T R A C T Each year infants, children and young adults die suddenly and unexpectedly. In many cases the cause of death can be elucidated by medico-legal autopsy, however, a significant number of these cases remain unexplained despite a detailed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24621c2902e6d4e3ba225243233568c8
https://doi.org/10.1016/j.forsciint.2013.03.050
https://doi.org/10.1016/j.forsciint.2013.03.050
Autor:
Thorsten M, Kranz, Marnie, Kopp, Regina, Waltes, Michael, Sachse, Eftichia, Duketis, Tomasz A, Jarczok, Franziska, Degenhardt, Katharina, Görgen, Jobst, Meyer, Christine M, Freitag, Andreas G, Chiocchetti
Publikováno v:
Autism research : official journal of the International Society for Autism Research. 9(10)
Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ac926f98f8d8f42b15048dda7fb79d50
https://pubmed.ncbi.nlm.nih.gov/26788924
https://pubmed.ncbi.nlm.nih.gov/26788924
Autor:
Jobst Meyer, Regina Waltes, Anette Voran, Marnie Kopp, Ulrike Graab, Christine M. Freitag, Denise Haslinger, Sabine M. Klauck, Eftichia Duketis, Simone Fulda, Tomasz A. Jarczok, Andreas G. Chiocchetti, Fritz Poustka
Publikováno v:
Molecular psychiatry. 20(7)
Contactin-associated protein-like 2 gene (CNTNAP2), a member of the Neurexin gene superfamily, is one of the best-replicated risk genes for autism spectrum disorders (ASD). ASD are predominately genetically determined neurodevelopmental disorders cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a0d053c2a7e82694e97a9666914d085
https://pubmed.ncbi.nlm.nih.gov/25224256
https://pubmed.ncbi.nlm.nih.gov/25224256
Autor:
Christian Proepper, Dominique Bonneau, Catalina Betancur, Sarah Curran, Astrid M. Vicente, Henrik Anckarsäter, Elena Bacchelli, Sabine M. Klauck, Eftichia Duketis, Guiomar Oliveira, Fabien Fauchereau, Richard Delorme, Irma Järvelä, I. Carina Gillberg, Marina Konyukh, Stephen W. Scherer, Pauline Chaste, Elena Maestrini, Guillaume Huguet, Dalila Pinto, David Skuse, Marie-Christine Mouren, Béatrice Regnault, Nathalie Lemière, Jonas Melke, Christopher Gillberg, Bárbara Oliveira, Maria Råstam, Thomas Bourgeron, Marnie Kopp, Marc Delepine, Oriane Mercati, Raija Vanhala, Luigi Mazzone, Marion Leboyer, Richard Holt, Agatino Battaglia, Fiorella Minopoli, Katri Kantojärvi, Diana Zelenika, Liliana Ruta, Roberto Toro, Ana Filipa Sequeira, Françoise Devillard, Brigitte Assouline, Martin Poot, Elodie Ey, Regina Waltes, Vincent Guinchat, Tobias M. Boeckers, Jutta Heinrich, Anthony P. Monaco, Gudrun Nygren, Fritz Poustka, Mark Lathrop, David A. Collier, Claire S. Leblond, Patrick Bolton, Christine M. Freitag, Andreas G. Chiocchetti
Publikováno v:
PLoS Genetics
PLoS Genetics, 2012, 8 (2), pp.e1002521. ⟨10.1371/journal.pgen.1002521⟩
PLoS Genetics; 8(2) (2012)
Leblond, C S, Heinrich, J, Delorme, R, Proepper, C, Betancur, C, Huguet, G, Konyukh, M, Chaste, P, Ey, E, Rastam, M, Anckarsater, H, Nygren, G, Gillberg, I C, Melke, J, Toro, R, Regnault, B, Fauchereau, F, Mercati, O, Lemiere, N, Skuse, D, Poot, M, Holt, R, Monaco, A P, Jarvela, I, Kantojarvi, K, Vanhala, R, Curran, S, Collier, D A, Bolton, P, Chiocchetti, A, Klauck, S M, Poustka, F, Freitag, C M, Waltes, R, Kopp, M, Duketis, E, Bacchelli, E, Minopoli, F, Ruta, L, Battaglia, A, Mazzone, L, Maestrini, E, Sequeira, A F, Oliveira, B, Vicente, A, Oliveira, G, Pinto, D, Scherer, S W, Zelenika, D, Delepine, M, Lathrop, M, Bonneau, D, Guinchat, V, Devillard, F, Assouline, B, Mouren, M-C, Leboyer, M, Gillberg, C, Boeckers, T M & Bourgeron, T 2012, ' Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders ', PL o S Genetics, vol. 8, no. 2, e1002521 . https://doi.org/10.1371/journal.pgen.1002521
PLoS Genetics, Vol 8, Iss 2, p e1002521 (2012)
PLoS Genetics, Public Library of Science, 2012, 8 (2), pp.e1002521. ⟨10.1371/journal.pgen.1002521⟩
PLoS Genetics, 2012, 8 (2), pp.e1002521. ⟨10.1371/journal.pgen.1002521⟩
PLoS Genetics; 8(2) (2012)
Leblond, C S, Heinrich, J, Delorme, R, Proepper, C, Betancur, C, Huguet, G, Konyukh, M, Chaste, P, Ey, E, Rastam, M, Anckarsater, H, Nygren, G, Gillberg, I C, Melke, J, Toro, R, Regnault, B, Fauchereau, F, Mercati, O, Lemiere, N, Skuse, D, Poot, M, Holt, R, Monaco, A P, Jarvela, I, Kantojarvi, K, Vanhala, R, Curran, S, Collier, D A, Bolton, P, Chiocchetti, A, Klauck, S M, Poustka, F, Freitag, C M, Waltes, R, Kopp, M, Duketis, E, Bacchelli, E, Minopoli, F, Ruta, L, Battaglia, A, Mazzone, L, Maestrini, E, Sequeira, A F, Oliveira, B, Vicente, A, Oliveira, G, Pinto, D, Scherer, S W, Zelenika, D, Delepine, M, Lathrop, M, Bonneau, D, Guinchat, V, Devillard, F, Assouline, B, Mouren, M-C, Leboyer, M, Gillberg, C, Boeckers, T M & Bourgeron, T 2012, ' Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders ', PL o S Genetics, vol. 8, no. 2, e1002521 . https://doi.org/10.1371/journal.pgen.1002521
PLoS Genetics, Vol 8, Iss 2, p e1002521 (2012)
PLoS Genetics, Public Library of Science, 2012, 8 (2), pp.e1002521. ⟨10.1371/journal.pgen.1002521⟩
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56ed2154762e7bb93d3fa700c4c094ca
https://www.hal.inserm.fr/inserm-00834560
https://www.hal.inserm.fr/inserm-00834560
Autor:
Guillaume Huguet, Tomasz A. Jarczok, Christine M. Freitag, Jobst Meyer, Sven Bölte, Anette Voran, Michael Sachse, Gabriele Schmötzer, Sabine M. Klauck, Sabine Schlitt, Tina Kleinböck, Thomas Bourgeron, Laura M. Kämpfer, Regina Waltes, Eftichia Duketis, Richard Anney, Michael Knapp, Ellen Huy, Fritz Poustka, Andreas G. Chiocchetti
Publikováno v:
Human Genetics
Human Genetics, Springer Verlag, 2014, 133 (6), pp.781-92. ⟨10.1007/s00439-013-1416-y⟩
Human Genetics, 2014, 133 (6), pp.781-92. ⟨10.1007/s00439-013-1416-y⟩
Human Genetics, Springer Verlag, 2014, 133 (6), pp.781-92. ⟨10.1007/s00439-013-1416-y⟩
Human Genetics, 2014, 133 (6), pp.781-92. ⟨10.1007/s00439-013-1416-y⟩
International audience; Autism spectrum disorders (ASD) are heterogeneous disorders with a high heritability and complex genetic architecture. Due to the central role of the fragile X mental retardation gene 1 protein (FMRP) pathway in ASD we investi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::910dc5b6317dc7490dc60cbef7f6dc18
https://hal-pasteur.archives-ouvertes.fr/pasteur-01579800
https://hal-pasteur.archives-ouvertes.fr/pasteur-01579800