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

2

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: martin 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.

3

Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.

Campion D, Flaman JM, Brice A, Hannequin D, Dubois B, Martin C, Moreau V, Charbonnier F, Didierjean O, Tardieu S, et al. Campion D, et al. Among authors: martin c. Hum Mol Genet. 1995 Dec;4(12):2373-7. doi: 10.1093/hmg/4.12.2373. Hum Mol Genet. 1995. PMID: 8634712

4

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: martin c. 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.

5

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: martin c. 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.

6

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

7

A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease.

Raux G, Gantier R, Martin C, Pothin Y, Brice A, Frebourg T, Campion D. Raux G, et al. Among authors: martin c. Hum Mutat. 2000 Jul;16(1):95. doi: 10.1002/1098-1004(200007)16:1<95::AID-HUMU28>3.0.CO;2-H. Hum Mutat. 2000. PMID: 10874324 No abstract available.

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

9

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. Dumanchin C, et al. Among authors: martin c. Hum Mol Genet. 1999 Jul;8(7):1263-9. doi: 10.1093/hmg/8.7.1263. Hum Mol Genet. 1999. PMID: 10369872

10

APOE promoter polymorphisms do not confer independent risk for Alzheimer's disease in a French population.

Zurutuza L, Verpillat P, Raux G, Hannequin D, Puel M, Belliard S, Michon A, Pothin Y, Camuzat A, Penet C, Martin C, Brice A, Campion D, Clerget-Darpoux F, Frebourg T. Zurutuza L, et al. Among authors: martin c. Eur J Hum Genet. 2000 Sep;8(9):713-6. doi: 10.1038/sj.ejhg.5200513. Eur J Hum Genet. 2000. PMID: 10980578

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