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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, Chaste P, Ey E, Rastam M, Anckarsäter H, Nygren G, Gillberg IC, Melke J, Toro R, Regnault B, Fauchereau F, Mercati O, Lemière N, Skuse D, Poot M, Holt R, Monaco AP, Järvelä I, Kantojärvi K, Vanhala R, Curran S, Collier DA, Bolton P, Chiocchetti A, Klauck SM, Poustka F, Freitag CM, Waltes R, Kopp M, Duketis E, Bacchelli E, Minopoli F, Ruta L, Battaglia A, Mazzone L, Maestrini E, Sequeira AF, Oliveira B, Vicente A, Oliveira G, Pinto D, Scherer SW, Zelenika D, Delepine M, Lathrop M, Bonneau D, Guinchat V, Devillard F, Assouline B, Mouren MC, Leboyer M, Gillberg C, Boeckers TM, Bourgeron T. Leblond CS, et al. Among authors: toro r. PLoS Genet. 2012 Feb;8(2):e1002521. doi: 10.1371/journal.pgen.1002521. Epub 2012 Feb 9. PLoS Genet. 2012. PMID: 22346768 Free PMC article.
Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
Konyukh M, Delorme R, Chaste P, Leblond C, Lemière N, Nygren G, Anckarsäter H, Rastam M, Ståhlberg O, Amsellem F, Gillberg IC, Mouren-Simeoni MC, Herbrecht E, Fauchereau F, Toro R, Gillberg C, Leboyer M, Bourgeron T. Konyukh M, et al. Among authors: toro r. PLoS One. 2011 Mar 4;6(3):e17289. doi: 10.1371/journal.pone.0017289. PLoS One. 2011. PMID: 21394203 Free PMC article.
Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.
Chaste P, Clement N, Botros HG, Guillaume JL, Konyukh M, Pagan C, Scheid I, Nygren G, Anckarsäter H, Rastam M, Ståhlberg O, Gillberg IC, Melke J, Delorme R, Leblond C, Toro R, Huguet G, Fauchereau F, Durand C, Boudarene L, Serrano E, Lemière N, Launay JM, Leboyer M, Jockers R, Gillberg C, Bourgeron T. Chaste P, et al. Among authors: toro r. J Pineal Res. 2011 Nov;51(4):394-9. doi: 10.1111/j.1600-079X.2011.00902.x. Epub 2011 May 26. J Pineal Res. 2011. PMID: 21615493
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2.
Schmeisser MJ, Ey E, Wegener S, Bockmann J, Stempel AV, Kuebler A, Janssen AL, Udvardi PT, Shiban E, Spilker C, Balschun D, Skryabin BV, Dieck St, Smalla KH, Montag D, Leblond CS, Faure P, Torquet N, Le Sourd AM, Toro R, Grabrucker AM, Shoichet SA, Schmitz D, Kreutz MR, Bourgeron T, Gundelfinger ED, Boeckers TM. Schmeisser MJ, et al. Among authors: toro r. Nature. 2012 Apr 29;486(7402):256-60. doi: 10.1038/nature11015. Nature. 2012. PMID: 22699619
Progress toward treatments for synaptic defects in autism.
Delorme R, Ey E, Toro R, Leboyer M, Gillberg C, Bourgeron T. Delorme R, et al. Among authors: toro r. Nat Med. 2013 Jun;19(6):685-94. doi: 10.1038/nm.3193. Epub 2013 Jun 6. Nat Med. 2013. PMID: 23744158 Review.
The Roots of Autism and ADHD Twin Study in Sweden (RATSS).
Bölte S, Willfors C, Berggren S, Norberg J, Poltrago L, Mevel K, Coco C, Fransson P, Borg J, Sitnikov R, Toro R, Tammimies K, Anderlid BM, Nordgren A, Falk A, Meyer U, Kere J, Landén M, Dalman C, Ronald A, Anckarsäter H, Lichtenstein P. Bölte S, et al. Among authors: toro r. Twin Res Hum Genet. 2014 Jun;17(3):164-76. doi: 10.1017/thg.2014.12. Epub 2014 Apr 15. Twin Res Hum Genet. 2014. PMID: 24735654
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, Bourgeron T. Leblond CS, et al. Among authors: toro r. PLoS Genet. 2014 Sep 4;10(9):e1004580. doi: 10.1371/journal.pgen.1004580. eCollection 2014 Sep. PLoS Genet. 2014. PMID: 25188300 Free PMC article.
11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.
Maruani A, Huguet G, Beggiato A, ElMaleh M, Toro R, Leblond CS, Mathieu A, Amsellem F, Lemière N, Verloes A, Leboyer M, Gillberg C, Bourgeron T, Delorme R. Maruani A, et al. Among authors: toro r. Am J Med Genet A. 2015 Dec;167A(12):3019-30. doi: 10.1002/ajmg.a.37345. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26334118 Free article.
495 results