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Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.
Breuss M, Heng JI, Poirier K, Tian G, Jaglin XH, Qu Z, Braun A, Gstrein T, Ngo L, Haas M, Bahi-Buisson N, Moutard ML, Passemard S, Verloes A, Gressens P, Xie Y, Robson KJ, Rani DS, Thangaraj K, Clausen T, Chelly J, Cowan NJ, Keays DA. Breuss M, et al. Among authors: verloes a. Cell Rep. 2012 Dec 27;2(6):1554-62. doi: 10.1016/j.celrep.2012.11.017. Epub 2012 Dec 13. Cell Rep. 2012. PMID: 23246003 Free PMC article. Clinical Trial.
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Cavallin M, Rujano MA, Bednarek N, Medina-Cano D, Bernabe Gelot A, Drunat S, Maillard C, Garfa-Traore M, Bole C, Nitschké P, Beneteau C, Besnard T, Cogné B, Eveillard M, Kuster A, Poirier K, Verloes A, Martinovic J, Bidat L, Rio M, Lyonnet S, Reilly ML, Boddaert N, Jenneson-Liver M, Motte J, Doco-Fenzy M, Chelly J, Attie-Bitach T, Simons M, Cantagrel V, Passemard S, Baffet A, Thomas S, Bahi-Buisson N. Cavallin M, et al. Among authors: verloes a. Brain. 2017 Oct 1;140(10):2597-2609. doi: 10.1093/brain/awx218. Brain. 2017. PMID: 28969387
Microcephaly.
Passemard S, Kaindl AM, Verloes A. Passemard S, et al. Among authors: verloes a. Handb Clin Neurol. 2013;111:129-41. doi: 10.1016/B978-0-444-52891-9.00013-0. Handb Clin Neurol. 2013. PMID: 23622158 Review.
Many roads lead to primary autosomal recessive microcephaly.
Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B, Verloes A, Mani S, Gressens P. Kaindl AM, et al. Among authors: verloes a. Prog Neurobiol. 2010 Mar;90(3):363-83. doi: 10.1016/j.pneurobio.2009.11.002. Epub 2009 Dec 2. Prog Neurobiol. 2010. PMID: 19931588 Review.
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
Harding BN, Moccia A, Drunat S, Soukarieh O, Tubeuf H, Chitty LS, Verloes A, Gressens P, El Ghouzzi V, Joriot S, Di Cunto F, Martins A, Passemard S, Bielas SL. Harding BN, et al. Among authors: verloes a. Am J Hum Genet. 2016 Aug 4;99(2):511-20. doi: 10.1016/j.ajhg.2016.07.003. Epub 2016 Jul 21. Am J Hum Genet. 2016. PMID: 27453579 Free PMC article.
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S. Létard P, et al. Among authors: verloes a. Hum Mutat. 2018 Mar;39(3):319-332. doi: 10.1002/humu.23381. Epub 2018 Jan 16. Hum Mutat. 2018. PMID: 29243349 Free article.
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K. Izumi K, et al. Among authors: verloes a. Am J Hum Genet. 2016 Aug 4;99(2):451-9. doi: 10.1016/j.ajhg.2016.06.011. Epub 2016 Jul 28. Am J Hum Genet. 2016. PMID: 27476655 Free PMC article.
Golgipathies in Neurodevelopment: A New View of Old Defects.
Rasika S, Passemard S, Verloes A, Gressens P, El Ghouzzi V. Rasika S, et al. Among authors: verloes a. Dev Neurosci. 2018;40(5-6):396-416. doi: 10.1159/000497035. Epub 2019 Mar 15. Dev Neurosci. 2018. PMID: 30878996 Review.
Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory.
Passemard S, Verloes A, Billette de Villemeur T, Boespflug-Tanguy O, Hernandez K, Laurent M, Isidor B, Alberti C, Pouvreau N, Drunat S, Gérard B, El Ghouzzi V, Gallego J, Elmaleh-Bergès M, Huttner WB, Eliez S, Gressens P, Schaer M. Passemard S, et al. Among authors: verloes a. Cortex. 2016 Jan;74:158-76. doi: 10.1016/j.cortex.2015.10.010. Epub 2015 Oct 31. Cortex. 2016. PMID: 26691732
VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling.
Passemard S, El Ghouzzi V, Nasser H, Verney C, Vodjdani G, Lacaud A, Lebon S, Laburthe M, Robberecht P, Nardelli J, Mani S, Verloes A, Gressens P, Lelièvre V. Passemard S, et al. Among authors: verloes a. J Clin Invest. 2011 Aug;121(8):3071-87. doi: 10.1172/JCI43824. J Clin Invest. 2011. PMID: 21737879 Free PMC article.
512 results