Tysoe C - Search Results

1

Analysis of the apo E/apo C-I, angiotensin converting enzyme and methylenetetrahydrofolate reductase genes as candidates affecting human longevity.

Galinsky D, Tysoe C, Brayne CE, Easton DF, Huppert FA, Dening TR, Paykel ES, Rubinsztein DC. Galinsky D, et al. Among authors: tysoe c. Atherosclerosis. 1997 Mar 21;129(2):177-83. doi: 10.1016/s0021-9150(96)06027-3. Atherosclerosis. 1997. PMID: 9105559

2

Analysis of alpha-1 antichymotrypsin, presenilin-1, angiotensin-converting enzyme, and methylenetetrahydrofolate reductase loci as candidates for dementia.

Tysoe C, Galinsky D, Robinson D, Brayne CE, Easton DF, Huppert FA, Dening T, Paykel ES, Rubinsztein DC. Tysoe C, et al. Am J Med Genet. 1997 Apr 18;74(2):207-12. doi: 10.1002/(sici)1096-8628(19970418)74:2<207::aid-ajmg20>3.0.co;2-l. Am J Med Genet. 1997. PMID: 9129727

3

Apo E and Apo CI loci are associated with dementia in younger but not older late-onset cases.

Tysoe C, Galinsky D, Robinson D, Brayne C, Huppert FA, Dening T, Paykel ES, Easton DF, Rubinsztein DC. Tysoe C, et al. Dement Geriatr Cogn Disord. 1998 Jul-Aug;9(4):191-8. doi: 10.1159/000017046. Dement Geriatr Cogn Disord. 1998. PMID: 9681640

4

Apo E genotypes and risk of dementia in Down syndrome.

Rubinsztein DC, Hon J, Stevens F, Pyrah I, Tysoe C, Huppert FA, Easton DF, Holland AJ. Rubinsztein DC, et al. Among authors: tysoe c. Am J Med Genet. 1999 Aug 20;88(4):344-7. doi: 10.1002/(sici)1096-8628(19990820)88:4<344::aid-ajmg10>3.0.co;2-1. Am J Med Genet. 1999. PMID: 10402500

5

The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years.

Tysoe C, Robinson D, Brayne C, Dening T, Paykel ES, Huppert FA, Rubinsztein DC. Tysoe C, et al. J Med Genet. 1996 Dec;33(12):1002-6. doi: 10.1136/jmg.33.12.1002. J Med Genet. 1996. PMID: 9004131 Free PMC article.

6

Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease.

Tysoe C, Whittaker J, Cairns NJ, Atkinson PF, Harrington CR, Xuereb J, Wilcock G, Rubinsztein DC. Tysoe C, et al. Neurosci Lett. 1997 Jan 24;222(1):68-9. doi: 10.1016/s0304-3940(97)13339-0. Neurosci Lett. 1997. PMID: 9121726

7

A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.

Tysoe C, Whittaker J, Xuereb J, Cairns NJ, Cruts M, Van Broeckhoven C, Wilcock G, Rubinsztein DC. Tysoe C, et al. Am J Hum Genet. 1998 Jan;62(1):70-6. doi: 10.1086/301672. Am J Hum Genet. 1998. PMID: 9443865 Free PMC article.

8

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.

De Jonghe C, Cruts M, Rogaeva EA, Tysoe C, Singleton A, Vanderstichele H, Meschino W, Dermaut B, Vanderhoeven I, Backhovens H, Vanmechelen E, Morris CM, Hardy J, Rubinsztein DC, St George-Hyslop PH, Van Broeckhoven C. De Jonghe C, et al. Among authors: tysoe c. Hum Mol Genet. 1999 Aug;8(8):1529-40. doi: 10.1093/hmg/8.8.1529. Hum Mol Genet. 1999. PMID: 10401002

9

Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation.

Singleton AB, Hall R, Ballard CG, Perry RH, Xuereb JH, Rubinsztein DC, Tysoe C, Matthews P, Cordell B, Kumar-Singh S, De Jonghe C, Cruts M, van Broeckhoven C, Morris CM. Singleton AB, et al. Among authors: tysoe c. Brain. 2000 Dec;123 Pt 12:2467-74. doi: 10.1093/brain/123.12.2467. Brain. 2000. PMID: 11099448

10

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.

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