Chartier-Harlin MC - Search Results

1

Screening for mutations in the open reading frame and promoter of the beta-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val-->Ile.

Fidani L, Rooke K, Chartier-Harlin MC, Hughes D, Tanzi R, Mullan M, Roques P, Rossor M, Hardy J, Goate A. Fidani L, et al. Hum Mol Genet. 1992 Jun;1(3):165-8. doi: 10.1093/hmg/1.3.165. Hum Mol Genet. 1992. PMID: 1303172

2

A polymorphic dinucleotide repeat in intron 2 of the human cystatin-C gene.

Hughes D, Brown J, Hardy J, Chartier-Harlin MC. Hughes D, et al. Hum Mol Genet. 1992 May;1(2):143. doi: 10.1093/hmg/1.2.143. Hum Mol Genet. 1992. PMID: 1301159 No abstract available.

3

Alzheimer disease: the new agenda.

Hardy J, Chartier-Harlin MC, Mullan M. Hardy J, et al. Am J Hum Genet. 1992 Mar;50(3):648-51. Am J Hum Genet. 1992. PMID: 1539602 Free PMC article. No abstract available.

4

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.

Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving N, James L, et al. Goate A, et al. Nature. 1991 Feb 21;349(6311):704-6. doi: 10.1038/349704a0. Nature. 1991. PMID: 1671712

5

Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the beta-amyloid sequence.

Crawford F, Hardy J, Mullan M, Goate A, Hughes D, Fidani L, Roques P, Rossor M, Chartier-Harlin MC. Crawford F, et al. Neurosci Lett. 1991 Nov 25;133(1):1-2. doi: 10.1016/0304-3940(91)90042-r. Neurosci Lett. 1991. PMID: 1791986

6

Screening for the beta-amyloid precursor protein mutation (APP717: Val----Ile) in extended pedigrees with early onset Alzheimer's disease.

Chartier-Harlin MC, Crawford F, Hamandi K, Mullan M, Goate A, Hardy J, Backhovens H, Martin JJ, Broeckhoven CV. Chartier-Harlin MC, et al. Neurosci Lett. 1991 Aug 5;129(1):134-5. doi: 10.1016/0304-3940(91)90738-f. Neurosci Lett. 1991. PMID: 1922963

7

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.

Chartier-Harlin MC, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J, et al. Chartier-Harlin MC, et al. Nature. 1991 Oct 31;353(6347):844-6. doi: 10.1038/353844a0. Nature. 1991. PMID: 1944558

8

The Cystatin-C gene is not linked to early onset familial Alzheimer's disease.

Parfitt M, Crook R, Roques P, Rossor M, Chartier-Harlin MC. Parfitt M, et al. Neurosci Lett. 1993 May 14;154(1-2):81-3. doi: 10.1016/0304-3940(93)90176-l. Neurosci Lett. 1993. PMID: 8361651

9

Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine-->glycine).

Kennedy AM, Newman S, McCaddon A, Ball J, Roques P, Mullan M, Hardy J, Chartier-Harlin MC, Frackowiak RS, Warrington EK, et al. Kennedy AM, et al. Brain. 1993 Apr;116 ( Pt 2):309-24. doi: 10.1093/brain/116.2.309. Brain. 1993. PMID: 8461968

10

A full genome scan for late onset Alzheimer's disease.

Kehoe P, Wavrant-De Vrieze F, Crook R, Wu WS, Holmans P, Fenton I, Spurlock G, Norton N, Williams H, Williams N, Lovestone S, Perez-Tur J, Hutton M, Chartier-Harlin MC, Shears S, Roehl K, Booth J, Van Voorst W, Ramic D, Williams J, Goate A, Hardy J, Owen MJ. Kehoe P, et al. Hum Mol Genet. 1999 Feb;8(2):237-45. doi: 10.1093/hmg/8.2.237. Hum Mol Genet. 1999. PMID: 9931331

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