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TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
Delplanque J, Devos D, Huin V, Genet A, Sand O, Moreau C, Goizet C, Charles P, Anheim M, Monin ML, Buée L, Destée A, Grolez G, Delmaire C, Dujardin K, Dellacherie D, Brice A, Stevanin G, Strubi-Vuillaume I, Dürr A, Sablonnière B. Delplanque J, et al. Brain. 2014 Oct;137(Pt 10):2657-63. doi: 10.1093/brain/awu202. Epub 2014 Jul 28. Brain. 2014. PMID: 25070513
Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: two individual consequences of CUG trinucleotide repeats.
Dhaenens CM, Schraen-Maschke S, Tran H, Vingtdeux V, Ghanem D, Leroy O, Delplanque J, Vanbrussel E, Delacourte A, Vermersch P, Maurage CA, Gruffat H, Sergeant A, Mahadevan MS, Ishiura S, Buée L, Cooper TA, Caillet-Boudin ML, Charlet-Berguerand N, Sablonnière B, Sergeant N. Dhaenens CM, et al. Among authors: delplanque j. Exp Neurol. 2008 Apr;210(2):467-78. doi: 10.1016/j.expneurol.2007.11.020. Epub 2007 Dec 4. Exp Neurol. 2008. PMID: 18177861
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L, Marre M, Balkau B, Fajardy I, Vambergue A, Vatin V, Delplanque J, Le Guilcher D, De Graeve F, Lecoeur C, Sand O, Vaxillaire M, Froguel P. Bonnefond A, et al. Among authors: delplanque j. PLoS One. 2012;7(6):e37423. doi: 10.1371/journal.pone.0037423. Epub 2012 Jun 11. PLoS One. 2012. PMID: 22701567 Free PMC article.
Endocannabinoid receptor 1 gene variations increase risk for obesity and modulate body mass index in European populations.
Benzinou M, Chèvre JC, Ward KJ, Lecoeur C, Dina C, Lobbens S, Durand E, Delplanque J, Horber FF, Heude B, Balkau B, Borch-Johnsen K, Jørgensen T, Hansen T, Pedersen O, Meyre D, Froguel P. Benzinou M, et al. Among authors: delplanque j. Hum Mol Genet. 2008 Jul 1;17(13):1916-21. doi: 10.1093/hmg/ddn089. Epub 2008 Mar 28. Hum Mol Genet. 2008. PMID: 18375449
62 results