Dumanchin C - Search Results

1

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: dumanchin c. Neuroreport. 1996 Jul 8;7(10):1582-4. doi: 10.1097/00001756-199607080-00009. Neuroreport. 1996. PMID: 8904759

2

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. 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.

3

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. Hum Mol Genet. 1998 Oct;7(11):1825-9. doi: 10.1093/hmg/7.11.1825. Hum Mol Genet. 1998. PMID: 9736786

4

[Genetics of Alzheimer's disease].

Hannequin D, Campion D, Dumanchin C, Martinez M, Agid Y, Clerget-Darpoux F, Frebourg T, Brice A. Hannequin D, et al. Among authors: dumanchin c. Rev Neurol (Paris). 1998;154 Suppl 2:S65-74. Rev Neurol (Paris). 1998. PMID: 9834545 Review. French.

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: dumanchin c. 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

The L392V mutation of presenilin 1 associated with autosomal dominant early-onset Alzheimer's disease alters the secondary structure of the hydrophilic loop.

Gantier R, Dumanchin C, Campion D, Loutelier C, Lange C, Gagnon J, Davoust D, Frébourg T, Toma F. Gantier R, et al. Among authors: dumanchin c. Neuroreport. 1999 Sep 29;10(14):3071-4. doi: 10.1097/00001756-199909290-00036. Neuroreport. 1999. PMID: 10549825

7

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: dumanchin c. Nat Genet. 2006 Jan;38(1):24-6. doi: 10.1038/ng1718. Epub 2005 Dec 20. Nat Genet. 2006. PMID: 16369530

8

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. Hum Mutat. 2006 Oct;27(10):1063. doi: 10.1002/humu.9458. Hum Mutat. 2006. PMID: 16941492

9

Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.

Ancolio K, Dumanchin C, Barelli H, Warter JM, Brice A, Campion D, Frébourg T, Checler F. Ancolio K, et al. Among authors: dumanchin c. Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):4119-24. doi: 10.1073/pnas.96.7.4119. Proc Natl Acad Sci U S A. 1999. PMID: 10097173 Free PMC article.

10

The pathogenic L392V mutation of presenilin 1 decreases the affinity to glycogen synthase kinase-3 beta.

Gantier R, Gilbert D, Dumanchin C, Campion D, Davoust D, Toma F, Frébourg T. Gantier R, et al. Among authors: dumanchin c. Neurosci Lett. 2000 Apr 14;283(3):217-20. doi: 10.1016/s0304-3940(00)00949-6. Neurosci Lett. 2000. PMID: 10754226

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