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Motor neuron pathology in CANVAS due to RFC1 expansions.
Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F, Stojkovic T, Grabli D, Maisonobe T, Gaymard B, Lenglet T, Tard C, Davion JB, Sablonnière B, Monin ML, Ewenczyk C, Viala K, Charles P, Le Ber I, Reilly MM, Houlden H, Cortese A, Seilhean D, Brice A, Durr A. Huin V, et al. Among authors: sablonniere b. Brain. 2022 Jun 30;145(6):2121-2132. doi: 10.1093/brain/awab449. Brain. 2022. PMID: 34927205 Free 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: sablonniere b. 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: sablonniere b. Neurology. 2015 Oct 13;85(15):1293-300. doi: 10.1212/WNL.0000000000001997. Epub 2015 Sep 9. Neurology. 2015. PMID: 26354981 Free PMC article.
MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.
Huin V, Vasseur F, Schraen-Maschke S, Dhaenens CM, Devos P, Dupont K, Sergeant N, Buée L, Lacour A, Hofmann-Radvanyi H, Sablonnière B. Huin V, et al. Among authors: sablonniere b. J Neurol. 2013 Apr;260(4):998-1003. doi: 10.1007/s00415-012-6740-y. Epub 2012 Nov 16. J Neurol. 2013. PMID: 23161457
Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.
Huin V, Strubi-Vuillaume I, Dujardin K, Brion M, Delliaux M, Dellacherie D, Cuvellier JC, Cuisset JM, Riquet A, Moreau C, Defebvre L, Sablonnière B, Devos D. Huin V, et al. Among authors: sablonniere b. Parkinsonism Relat Disord. 2017 Dec;45:85-89. doi: 10.1016/j.parkreldis.2017.09.014. Epub 2017 Sep 19. Parkinsonism Relat Disord. 2017. PMID: 28947073 Free 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: sablonniere b. Mov Disord. 2016 Dec;31(12):1883-1890. doi: 10.1002/mds.26820. Epub 2016 Oct 6. Mov Disord. 2016. PMID: 27709663 Free article.
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: sablonniere b. 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.
103 results