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222 results

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Page 1
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: motte j. Brain. 2017 Oct 1;140(10):2597-2609. doi: 10.1093/brain/awx218. Brain. 2017. PMID: 28969387
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, Tardieu M, Viot G, Jaubert F, Munnich A, Colleaux L, Vekemans M, Etchevers H, Lyonnet S, Amiel J. de Pontual L, et al. Among authors: motte j. Hum Mutat. 2009 Apr;30(4):669-76. doi: 10.1002/humu.20935. Hum Mutat. 2009. PMID: 19235238
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
Van Maldergem L, Hou Q, Kalscheuer VM, Rio M, Doco-Fenzy M, Medeira A, de Brouwer AP, Cabrol C, Haas SA, Cacciagli P, Moutton S, Landais E, Motte J, Colleaux L, Bonnet C, Villard L, Dupont J, Man HY. Van Maldergem L, et al. Among authors: motte j. Hum Mol Genet. 2013 Aug 15;22(16):3306-14. doi: 10.1093/hmg/ddt187. Epub 2013 Apr 24. Hum Mol Genet. 2013. PMID: 23615299 Free PMC article.
The three stages of epilepsy in patients with CDKL5 mutations.
Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gérard M, Giuliano F, Motte J, Héron D, Morel MA, Plouin P, Richelme C, des Portes V, Dulac O, Philippe C, Chiron C, Nabbout R, Bienvenu T. Bahi-Buisson N, et al. Among authors: motte j. Epilepsia. 2008 Jun;49(6):1027-37. doi: 10.1111/j.1528-1167.2007.01520.x. Epub 2008 Feb 7. Epilepsia. 2008. PMID: 18266744 Free article.
Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients.
Gitiaux C, Roze E, Kinugawa K, Flamand-Rouvière C, Boddaert N, Apartis E, Valayannopoulos V, Touati G, Motte J, Devos D, Mention K, Dobbelaere D, Rodriguez D, Roubertie A, Chabrol B, Feillet F, Vidailhet M, Bahi-Buisson N. Gitiaux C, et al. Among authors: motte j. Mov Disord. 2008 Dec 15;23(16):2392-7. doi: 10.1002/mds.22313. Mov Disord. 2008. PMID: 18823014
222 results