Frebourg T - Search Results

1

Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

Dumanchin C, Camuzat A, Campion D, Verpillat P, Hannequin D, Dubois B, Saugier-Veber P, Martin C, Penet C, Charbonnier F, Agid Y, Frebourg T, Brice A. Dumanchin C, et al. Among authors: frebourg t. Hum Mol Genet. 1998 Oct;7(11):1825-9. doi: 10.1093/hmg/7.11.1825. Hum Mol Genet. 1998. PMID: 9736786

2

No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.

Campion D, Brice A, Hannequin D, Charbonnier F, Dubois B, Martin C, Michon A, Penet C, Bellis M, Calenda A, Martinez M, Agid Y, Clerget-Darpoux F, Frebourg T. Campion D, et al. Among authors: frebourg t. J Med Genet. 1996 Aug;33(8):661-4. doi: 10.1136/jmg.33.8.661. J Med Genet. 1996. PMID: 8863158 Free PMC article.

3

A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years.

Campion D, Brice A, Dumanchin C, Puel M, Baulac M, De La Sayette V, Hannequin D, Duyckaerts C, Michon A, Martin C, Moreau V, Penet C, Martinez M, Clerget-Darpoux F, Agid Y, Frebourg T. Campion D, et al. Among authors: frebourg t. Neuroreport. 1996 Jul 8;7(10):1582-4. doi: 10.1097/00001756-199607080-00009. Neuroreport. 1996. PMID: 8904759

4

De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.

Dumanchin C, Brice A, Campion D, Hannequin D, Martin C, Moreau V, Agid Y, Martinez M, Clerget-Darpoux F, Frebourg T. Dumanchin C, et al. Among authors: frebourg t. J Med Genet. 1998 Aug;35(8):672-3. doi: 10.1136/jmg.35.8.672. J Med Genet. 1998. PMID: 9719376 Free PMC article.

5

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: frebourg t. Am J Hum Genet. 1999 Sep;65(3):664-70. doi: 10.1086/302553. Am J Hum Genet. 1999. PMID: 10441572 Free PMC article.

6

Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.

Raux G, Gantier R, Thomas-Anterion C, Boulliat J, Verpillat P, Hannequin D, Brice A, Frebourg T, Campion D. Raux G, et al. Among authors: frebourg t. Neurology. 2000 Nov 28;55(10):1577-8. doi: 10.1212/wnl.55.10.1577. Neurology. 2000. PMID: 11094121

7

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.

Le Ber I, Martinez M, Campion D, Laquerrière A, Bétard C, Bassez G, Girard C, Saugier-Veber P, Raux G, Sergeant N, Magnier P, Maisonobe T, Eymard B, Duyckaerts C, Delacourte A, Frebourg T, Hannequin D. Le Ber I, et al. Among authors: frebourg t. Brain. 2004 Sep;127(Pt 9):1979-92. doi: 10.1093/brain/awh216. Epub 2004 Jun 23. Brain. 2004. PMID: 15215218

8

Tau is not normally degraded by the proteasome.

Feuillette S, Blard O, Lecourtois M, Frébourg T, Campion D, Dumanchin C. Feuillette S, et al. Among authors: frebourg t. J Neurosci Res. 2005 May 1;80(3):400-5. doi: 10.1002/jnr.20414. J Neurosci Res. 2005. PMID: 15795929

9

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerrière A, Vital A, Dumanchin C, Feuillette S, Brice A, Vercelletto M, Dubas F, Frebourg T, Campion D. Rovelet-Lecrux A, et al. Among authors: frebourg t. Nat Genet. 2006 Jan;38(1):24-6. doi: 10.1038/ng1718. Epub 2005 Dec 20. Nat Genet. 2006. PMID: 16369530

10

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.

Dumanchin C, Tournier I, Martin C, Didic M, Belliard S, Carlander B, Rouhart F, Duyckaerts C, Pellissier JF, Latouche JB, Hannequin D, Frebourg T, Tosi M, Campion D. Dumanchin C, et al. Among authors: frebourg t. Hum Mutat. 2006 Oct;27(10):1063. doi: 10.1002/humu.9458. Hum Mutat. 2006. PMID: 16941492

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