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Page 1
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations.
Carneiro F, Saracino D, Huin V, Clot F, Delorme C, Méneret A, Thobois S, Cormier F, Corvol JC, Lenglet T, Vidailhet M, Habert MO, Gabelle A, Beaufils É, Mondon K, Tir M, Andriuta D, Brice A, Deramecourt V, Le Ber I. Carneiro F, et al. Among authors: huin v. Parkinsonism Relat Disord. 2020 Nov;80:73-81. doi: 10.1016/j.parkreldis.2020.09.019. Epub 2020 Sep 15. Parkinsonism Relat Disord. 2020. PMID: 32961397
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: huin v. Brain. 2014 Oct;137(Pt 10):2657-63. doi: 10.1093/brain/awu202. Epub 2014 Jul 28. Brain. 2014. PMID: 25070513
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. 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.
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. Brain. 2022 Jun 30;145(6):2121-2132. doi: 10.1093/brain/awab449. Brain. 2022. PMID: 34927205 Free article.
33 results