Perez-Tur J - Search Results

1

A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene.

Perez-Tur J, Froelich S, Prihar G, Crook R, Baker M, Duff K, Wragg M, Busfield F, Lendon C, Clark RF, et al. Perez-Tur J, et al. Neuroreport. 1995 Dec 29;7(1):297-301. Neuroreport. 1995. PMID: 8742474

2

Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.

Hutton M, Busfield F, Wragg M, Crook R, Perez-Tur J, Clark RF, Prihar G, Talbot C, Phillips H, Wright K, Baker M, Lendon C, Duff K, Martinez A, Houlden H, Nichols A, Karran E, Roberts G, Roques P, Rossor M, Venter JC, Adams MD, Cline RT, Phillips CA, Goate A, et al. Hutton M, et al. Neuroreport. 1996 Feb 29;7(3):801-5. doi: 10.1097/00001756-199602290-00029. Neuroreport. 1996. PMID: 8733749

3

Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1.

Duff K, Eckman C, Zehr C, Yu X, Prada CM, Perez-tur J, Hutton M, Buee L, Harigaya Y, Yager D, Morgan D, Gordon MN, Holcomb L, Refolo L, Zenk B, Hardy J, Younkin S. Duff K, et al. Nature. 1996 Oct 24;383(6602):710-3. doi: 10.1038/383710a0. Nature. 1996. PMID: 8878479

4

Structure and alternative splicing of the presenilin-2 gene.

Prihar G, Fuldner RA, Perez-Tur J, Lincoln S, Duff K, Crook R, Hardy J, Philips CA, Venter C, Talbot C, Clark RF, Goate A, Li J, Potter H, Karran E, Roberts GW, Hutton M, Adams MD. Prihar G, et al. Neuroreport. 1996 Jul 8;7(10):1680-4. doi: 10.1097/00001756-199607080-00031. Neuroreport. 1996. PMID: 8904781

5

A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.

Perez-Tur J, Croxton R, Wright K, Phillips H, Zehr C, Crook R, Hutton M, Hardy J, Karran E, Roberts GW, Lancaster S, Haltia T. Perez-Tur J, et al. Neurodegeneration. 1996 Sep;5(3):207-12. doi: 10.1006/neur.1996.0028. Neurodegeneration. 1996. PMID: 8910898

6

Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.

Crook R, Ellis R, Shanks M, Thal LJ, Perez-Tur J, Baker M, Hutton M, Haltia T, Hardy J, Galasko D. Crook R, et al. Ann Neurol. 1997 Jul;42(1):124-8. doi: 10.1002/ana.410420121. Ann Neurol. 1997. PMID: 9225696

7

The role of presenilin 1 in the genetics of Alzheimer's disease.

Clark RF, Hutton M, Talbot C, Wragg M, Lendon C, Busfield F, Han SW, Perez-Tur J, Adams M, Fuldner R, Roberts G, Karran E, Hardy J, Goate A. Clark RF, et al. Cold Spring Harb Symp Quant Biol. 1996;61:551-8. Cold Spring Harb Symp Quant Biol. 1996. PMID: 9246481

8

A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43).

Eckman CB, Mehta ND, Crook R, Perez-tur J, Prihar G, Pfeiffer E, Graff-Radford N, Hinder P, Yager D, Zenk B, Refolo LM, Prada CM, Younkin SG, Hutton M, Hardy J. Eckman CB, et al. Hum Mol Genet. 1997 Nov;6(12):2087-9. doi: 10.1093/hmg/6.12.2087. Hum Mol Genet. 1997. PMID: 9328472

9

Increased Abeta42(43) from cell lines expressing presenilin 1 mutations.

Mehta ND, Refolo LM, Eckman C, Sanders S, Yager D, Perez-Tur J, Younkin S, Duff K, Hardy J, Hutton M. Mehta ND, et al. Ann Neurol. 1998 Feb;43(2):256-8. doi: 10.1002/ana.410430217. Ann Neurol. 1998. PMID: 9485068

10

Low frequency of alpha-synuclein mutations in familial Parkinson's disease.

Farrer M, Wavrant-De Vrieze F, Crook R, Boles L, Perez-Tur J, Hardy J, Johnson WG, Steele J, Maraganore D, Gwinn K, Lynch T. Farrer M, et al. Ann Neurol. 1998 Mar;43(3):394-7. doi: 10.1002/ana.410430320. Ann Neurol. 1998. PMID: 9506559

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