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Page 1
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
Le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, Bras J, Nicolas G, Gabelle A, Didic M, De Septenville A, Millecamps S, Lenglet T, Latouche M, Kabashi E, Campion D, Hannequin D, Hardy J, Brice A; French Clinical and Genetic Research Network on FTD/FTD-ALS. Le Ber I, et al. Among authors: bouya ahmed k. JAMA Neurol. 2013 Nov;70(11):1403-10. doi: 10.1001/jamaneurol.2013.3849. JAMA Neurol. 2013. PMID: 24042580 Free PMC article.
hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.
Le Ber I, Van Bortel I, Nicolas G, Bouya-Ahmed K, Camuzat A, Wallon D, De Septenville A, Latouche M, Lattante S, Kabashi E, Jornea L, Hannequin D, Brice A; French research Network on FTLD/FTLD-ALS. Le Ber I, et al. Among authors: bouya ahmed k. Neurobiol Aging. 2014 Apr;35(4):934.e5-6. doi: 10.1016/j.neurobiolaging.2013.09.016. Epub 2013 Oct 9. Neurobiol Aging. 2014. PMID: 24119545
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.
Le Ber I, De Septenville A, Guerreiro R, Bras J, Camuzat A, Caroppo P, Lattante S, Couarch P, Kabashi E, Bouya-Ahmed K, Dubois B, Brice A. Le Ber I, et al. Among authors: bouya ahmed k. Neurobiol Aging. 2014 Oct;35(10):2419.e23-2419.e25. doi: 10.1016/j.neurobiolaging.2014.04.010. Epub 2014 Apr 18. Neurobiol Aging. 2014. PMID: 24910390 Free PMC article.
A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.
Boutoleau-Bretonnière C, Camuzat A, Le Ber I, Bouya-Ahmed K, Guerreiro R, Deruet AL, Evrard C, Bras J, Lamy E, Auffray-Calvier E, Pallardy A, Hardy J, Brice A, Derkinderen P, Vercelletto M. Boutoleau-Bretonnière C, et al. Among authors: bouya ahmed k. J Alzheimers Dis. 2015;43(2):625-30. doi: 10.3233/JAD-141512. J Alzheimers Dis. 2015. PMID: 25114083 Free PMC article.