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Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease.
Coku I, Mutez E, Eddarkaoui S, Carrier S, Marchand A, Deldycke C, Goveas L, Baille G, Tir M, Magnez R, Thuru X, Vermeersch G, Vandenberghe W, Buée L, Defebvre L, Sablonnière B, Chartier-Harlin MC, Taymans JM, Huin V. Coku I, et al. Among authors: buee l. Mov Disord. 2022 Aug;37(8):1761-1767. doi: 10.1002/mds.29124. Epub 2022 Jun 16. Mov Disord. 2022. PMID: 35708213 Free PMC article.
A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease.
Dhaenens CM, Burnouf S, Simonin C, Van Brussel E, Duhamel A, Defebvre L, Duru C, Vuillaume I, Cazeneuve C, Charles P, Maison P, Debruxelles S, Verny C, Gervais H, Azulay JP, Tranchant C, Bachoud-Levi AC, Dürr A, Buée L, Krystkowiak P, Sablonnière B, Blum D; Huntington French Speaking Network. Dhaenens CM, et al. Among authors: buee l. Neurobiol Dis. 2009 Sep;35(3):474-6. doi: 10.1016/j.nbd.2009.06.009. Epub 2009 Jul 8. Neurobiol Dis. 2009. PMID: 19591938
Analysis of exonic regions involved in nuclear localization, splicing activity, and dimerization of Muscleblind-like-1 isoforms.
Tran H, Gourrier N, Lemercier-Neuillet C, Dhaenens CM, Vautrin A, Fernandez-Gomez FJ, Arandel L, Carpentier C, Obriot H, Eddarkaoui S, Delattre L, Van Brussels E, Holt I, Morris GE, Sablonnière B, Buée L, Charlet-Berguerand N, Schraen-Maschke S, Furling D, Behm-Ansmant I, Branlant C, Caillet-Boudin ML, Sergeant N. Tran H, et al. Among authors: buee l. J Biol Chem. 2011 May 6;286(18):16435-46. doi: 10.1074/jbc.M110.194928. Epub 2011 Mar 18. J Biol Chem. 2011. PMID: 21454535 Free PMC article.
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. Among authors: buee l. Brain. 2014 Oct;137(Pt 10):2657-63. doi: 10.1093/brain/awu202. Epub 2014 Jul 28. Brain. 2014. PMID: 25070513
A geographical cluster of progressive supranuclear palsy in northern France.
Caparros-Lefebvre D, Golbe LI, Deramecourt V, Maurage CA, Huin V, Buée-Scherrer V, Obriot H, Sablonnière B, Caparros F, Buée L, Lees AJ. Caparros-Lefebvre D, et al. Among authors: buee scherrer v, buee l. Neurology. 2015 Oct 13;85(15):1293-300. doi: 10.1212/WNL.0000000000001997. Epub 2015 Sep 9. Neurology. 2015. PMID: 26354981 Free PMC article.
The MAPT gene is differentially methylated in the progressive supranuclear palsy brain.
Huin V, Deramecourt V, Caparros-Lefebvre D, Maurage CA, Duyckaerts C, Kovari E, Pasquier F, Buée-Scherrer V, Labreuche J, Behal H, Buée L, Dhaenens CM, Sablonnière B. Huin V, et al. Among authors: buee scherrer v, buee l. Mov Disord. 2016 Dec;31(12):1883-1890. doi: 10.1002/mds.26820. Epub 2016 Oct 6. Mov Disord. 2016. PMID: 27709663 Free article.
335 results