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Items: 16

1.

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.

Hum Mutat. 2006 Oct;27(10):1063.

PMID:
16941492
2.

Valosin-containing protein gene mutations: clinical and neuropathologic features.

Guyant-Maréchal L, Laquerrière A, Duyckaerts C, Dumanchin C, Bou J, Dugny F, Le Ber I, Frébourg T, Hannequin D, Campion D.

Neurology. 2006 Aug 22;67(4):644-51. Epub 2006 Jun 21.

PMID:
16790606
3.

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.

Nat Genet. 2006 Jan;38(1):24-6. Epub 2005 Dec 20.

PMID:
16369530
4.

JLK inhibitors: isocoumarin compounds as putative probes to selectively target the gamma-secretase pathway.

Checler F, Alves da Costa C, Ayral E, Andrau D, Dumanchin C, Farzan M, Hernandez JF, Martinez J, Lefranc-Jullien S, Marambaud P, Pasini A, Petit A, Phiel C, Robert P, St George-Hyslop P, Wilk S.

Curr Alzheimer Res. 2005 Jul;2(3):327-34. Review. Erratum in: Curr Alzheimer Res. 2005 Oct;2(4):493. Frédéric, Checler [corrected to Checler, Frédéric]; Cristine, Alves da Costa [corrected to Alves da Costa, Cristine]; Erwan, Ayral [corrected to Ayral, Erwan]; David, Andrau [corrected to Andrau, David]; Cécile, Dumanchin [corrected to Dumanchin, Céc.

PMID:
15974898
5.

Tau is not normally degraded by the proteasome.

Feuillette S, Blard O, Lecourtois M, Frébourg T, Campion D, Dumanchin C.

J Neurosci Res. 2005 May 1;80(3):400-5.

PMID:
15795929
6.

Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation.

Maréchal L, Raux G, Dumanchin C, Lefebvre G, Deslandre E, Girard C, Campion D, Parain D, Frebourg T, Hannequin D.

Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):114-7.

PMID:
12707948
7.

Overexpression of Rab11 or constitutively active Rab11 does not affect sAPPalpha and Abeta secretions by wild-type and Swedish mutated betaAPP-expressing HEK293 cells.

Lopez-Perez E, Dumanchin C, Czech C, Campion D, Goud B, Pradier L, Frebourg T, Checler F.

Biochem Biophys Res Commun. 2000 Sep 7;275(3):910-5.

PMID:
10973821
8.

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.

Neurosci Lett. 2000 Apr 14;283(3):217-20.

PMID:
10754226
9.

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.

Neuroreport. 1999 Sep 29;10(14):3071-4.

PMID:
10549825
10.

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.

Am J Hum Genet. 1999 Sep;65(3):664-70.

11.

Presenilins interact with Rab11, a small GTPase involved in the regulation of vesicular transport.

Dumanchin C, Czech C, Campion D, Cuif MH, Poyot T, Martin C, Charbonnier F, Goud B, Pradier L, Frebourg T.

Hum Mol Genet. 1999 Jul;8(7):1263-9.

PMID:
10369872
12.

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.

Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):4119-24.

13.

[Genetics of Alzheimer's disease].

Hannequin D, Campion D, Dumanchin C, Martinez M, Agid Y, Clerget-Darpoux F, Frebourg T, Brice A.

Rev Neurol (Paris). 1998;154 Suppl 2:S65-74. Review. French.

PMID:
9834545
14.

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.

Hum Mol Genet. 1998 Oct;7(11):1825-9.

PMID:
9736786
15.

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.

J Med Genet. 1998 Aug;35(8):672-3.

16.

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.

Neuroreport. 1996 Jul 8;7(10):1582-4.

PMID:
8904759

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