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Page 1
The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency.
Saracino D, Sellami L, Clot F, Camuzat A, Lamari F, Rucheton B, Benyounes I, Roué-Jagot C, Lagarde J, Sarazin M, Jornea L, Forlani S, LeGuern E, Dubois B, Brice A, Le Ber I. Saracino D, et al. Among authors: camuzat a. Neurobiol Aging. 2020 Jan;85:154.e9-154.e11. doi: 10.1016/j.neurobiolaging.2019.06.002. Epub 2019 Jun 10. Neurobiol Aging. 2020. PMID: 31262553
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, Frebourg T. Campion D, et al. Among authors: camuzat a. Am J Hum Genet. 1999 Sep;65(3):664-70. doi: 10.1086/302553. Am J Hum Genet. 1999. PMID: 10441572 Free PMC article.
Association between the extended tau haplotype and frontotemporal dementia.
Verpillat P, Camuzat A, Hannequin D, Thomas-Anterion C, Puel M, Belliard S, Dubois B, Didic M, Michel BF, Lacomblez L, Moreaud O, Sellal F, Golfier V, Campion D, Clerget-Darpoux F, Brice A. Verpillat P, et al. Among authors: camuzat a. Arch Neurol. 2002 Jun;59(6):935-9. doi: 10.1001/archneur.59.6.935. Arch Neurol. 2002. PMID: 12056929
Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis.
Verpillat P, Camuzat A, Hannequin D, Thomas-Anterion C, Puel M, Belliard S, Dubois B, Didic M, Lacomblez L, Moreaud O, Golfier V, Campion D, Brice A, Clerget-Darpoux F. Verpillat P, et al. Among authors: camuzat a. Eur J Hum Genet. 2002 Jul;10(7):399-405. doi: 10.1038/sj.ejhg.5200820. Eur J Hum Genet. 2002. PMID: 12107813
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak CP, Camuzat A, Lagueny A, Vercueil L, Doummar D, Guyant-Maréchal L, Houeto JL, Ponsot G, Thobois S, Cournelle MA, Durr A, Durif F, Echenne B, Hannequin D, Tranchant C, Brice A; French Dystonia Network. Tezenas du Montcel S, et al. Among authors: camuzat a. J Med Genet. 2006 May;43(5):394-400. doi: 10.1136/jmg.2005.036780. Epub 2005 Oct 14. J Med Genet. 2006. PMID: 16227522 Free PMC article.
127 results