T
Tobias M. Boeckers
Researcher at University of Ulm
Publications - 204
Citations - 12572
Tobias M. Boeckers is an academic researcher from University of Ulm. The author has contributed to research in topics: Postsynaptic density & Postsynaptic potential. The author has an hindex of 51, co-authored 183 publications receiving 10524 citations. Previous affiliations of Tobias M. Boeckers include University of Münster & German Center for Neurodegenerative Diseases.
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Journal ArticleDOI
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
Christelle M. Durand,Catalina Betancur,Tobias M. Boeckers,Juergen Bockmann,Pauline Chaste,Fabien Fauchereau,Gudrun Nygren,Maria Råstam,I. Carina Gillberg,Henrik Anckarsäter,Eili Sponheim,Hany Goubran-Botros,Richard Delorme,Nadia Chabane,Marie-Christine Mouren-Simeoni,Philippe de Mas,Eric Bieth,Bernadette Rogé,Delphine Héron,Lydie Burglen,Christopher Gillberg,Marion Leboyer,Thomas Bourgeron +22 more
TL;DR: It is reported that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders.
Journal ArticleDOI
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Axel Freischmidt,Thomas Wieland,Benjamin Richter,Wolfgang Ruf,Veronique Schaeffer,Kathrin Muller,Nicolai Marroquin,Frida Nordin,Annemarie Hübers,Patrick Weydt,Susana Pinto,Rayomond Press,Stéphanie Millecamps,Nicolas Molko,Emilien Bernard,Claude Desnuelle,Marie-Hélène Soriani,Johannes Dorst,Elisabeth Graf,Ulrika Nordström,Marisa S. Feiler,Stefan Putz,Tobias M. Boeckers,Thomas F. Meyer,Andrea Sylvia Winkler,Juliane Winkelman,Mamede de Carvalho,Dietmar Rudolf Thal,Markus Otto,Thomas Brännström,Alexander E Volk,Petri Kursula,Karin M Danzer,Peter Lichtner,Ivan Dikic,Thomas Meitinger,Albert C. Ludolph,Tim M. Strom,Peter M Andersen,Jochen H. Weishaupt +39 more
TL;DR: It is concluded that haploinsufficiency of TBK1 causes ALS and fronto-temporal dementia.
Journal ArticleDOI
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2
Michael J. Schmeisser,Elodie Ey,Stephanie Wegener,Juergen Bockmann,A. Vanessa Stempel,Angelika Kuebler,Anna-Lena Janssen,Patrick T Udvardi,Ehab Shiban,Christina Spilker,Detlef Balschun,Boris V. Skryabin,Susanne tom Dieck,Karl-Heinz Smalla,Dirk Montag,Claire S. Leblond,Philippe Faure,Nicolas Torquet,Anne-Marie Le Sourd,Roberto Toro,Andreas M. Grabrucker,Sarah A. Shoichet,Dietmar Schmitz,Michael R. Kreutz,Thomas Bourgeron,Eckart D. Gundelfinger,Tobias M. Boeckers +26 more
TL;DR: It is shown that different abnormalities in synaptic glutamate receptor expression can cause alterations in social interactions and communication, and it is proposed that appropriate therapies for autism spectrum disorders are to be carefully matched to the underlying synaptopathic phenotype.
Journal ArticleDOI
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Claire S. Leblond,Caroline Nava,Anne Polge,Julie Gauthier,Guillaume Huguet,Serge Lumbroso,Fabienne Giuliano,Coline Stordeur,Christel Depienne,Kevin Mouzat,Dalila Pinto,Jennifer L. Howe,Nathalie Lemière,Christelle M. Durand,Jessica Guibert,Elodie Ey,Roberto Toro,Hugo Peyre,Alexandre Mathieu,Frédérique Amsellem,Maria Råstam,I. Carina Gillberg,Gudrun A. Rappold,Richard Holt,Anthony P. Monaco,Elena Maestrini,Pilar Galan,Delphine Héron,Aurélia Jacquette,Alexandra Afenjar,Agnès Rastetter,Alexis Brice,Françoise Devillard,Brigitte Assouline,Fanny Laffargue,James Lespinasse,Jean Chiesa,François Rivier,Dominique Bonneau,Béatrice Regnault,Diana Zelenika,Marc Delepine,Mark Lathrop,Damien Sanlaville,Caroline Schluth-Bolard,Patrick Edery,Laurence Perrin,Anne Claude Tabet,Michael J. Schmeisser,Tobias M. Boeckers,Mary Coleman,Daisuke Sato,Peter Szatmari,Stephen W. Scherer,Guy A. Rouleau,Catalina Betancur,Marion Leboyer,Christopher Gillberg,Richard Delorme,Thomas Bourgeron +59 more
TL;DR: Mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment and the clinical relevance of these genes remains to be ascertained.
Journal ArticleDOI
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
Claire S. Leblond,Jutta Heinrich,Richard Delorme,Christian Proepper,Catalina Betancur,Guillaume Huguet,Marina Konyukh,Pauline Chaste,Elodie Ey,Maria Råstam,Henrik Anckarsäter,Gudrun Nygren,I. Carina Gillberg,Jonas Melke,Roberto Toro,Béatrice 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 G. 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 Filipa Sequeira,Bárbara Oliveira,Astrid M. 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 +59 more
TL;DR: The identification of a novel 421 kb de novo SHANK2 deletion in a patient with autism strengthens the role of synaptic gene dysfunction in ASD but also highlights the presence of putative modifier genes, in keeping with the “multiple hit model” for ASD.