Schofield PR - Search Results

1

Investigating Olfactory Gene Variation and Odour Identification in Older Adults.

Raj S, Thalamuthu A, Armstrong NJ, Wright MJ, Kwok JB, Trollor JN, Ames D, Schofield PR, Brodaty H, Sachdev PS, Mather KA. Raj S, et al. Among authors: schofield pr. Genes (Basel). 2021 Apr 29;12(5):669. doi: 10.3390/genes12050669. Genes (Basel). 2021. PMID: 33946865 Free PMC article.

2

A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease.

Brooks WS, Martins RN, De Voecht J, Nicholson GA, Schofield PR, Kwok JB, Fisher C, Yeung LU, Van Broeckhoven C. Brooks WS, et al. Among authors: schofield pr. Neurosci Lett. 1995 Oct 27;199(3):183-6. doi: 10.1016/0304-3940(95)12046-7. Neurosci Lett. 1995. PMID: 8577393

3

Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.

Kwok JB, Taddei K, Hallupp M, Fisher C, Brooks WS, Broe GA, Hardy J, Fulham MJ, Nicholson GA, Stell R, St George Hyslop PH, Fraser PE, Kakulas B, Clarnette R, Relkin N, Gandy SE, Schofield PR, Martins RN. Kwok JB, et al. Among authors: schofield pr. Neuroreport. 1997 Apr 14;8(6):1537-42. doi: 10.1097/00001756-199704140-00043. Neuroreport. 1997. PMID: 9172170

4

Exclusion of linkage between bipolar affective disorder and chromosome 16 in 12 Australian pedigrees.

Adams LJ, Salmon JA, Kwok JB, Vivero C, Donald JA, Mitchell PB, Schofield PR. Adams LJ, et al. Among authors: schofield pr. Am J Med Genet. 1997 May 31;74(3):304-10. doi: 10.1002/(sici)1096-8628(19970531)74:3<304::aid-ajmg12>3.0.co;2-s. Am J Med Genet. 1997. PMID: 9184315

5

Nonparametric simulation-based statistical analyses for bipolar affective disorder locus on chromosome 21q22.3.

Kwok JB, Adams LJ, Salmon JA, Donald JA, Mitchell PB, Schofield PR. Kwok JB, et al. Among authors: schofield pr. Am J Med Genet. 1999 Feb 5;88(1):99-102. doi: 10.1002/(sici)1096-8628(19990205)88:1<99::aid-ajmg18>3.0.co;2-9. Am J Med Genet. 1999. PMID: 10050976

6

Novel Leu723Pro amyloid precursor protein mutation increases amyloid beta42(43) peptide levels and induces apoptosis.

Kwok JB, Li QX, Hallupp M, Whyte S, Ames D, Beyreuther K, Masters CL, Schofield PR. Kwok JB, et al. Among authors: schofield pr. Ann Neurol. 2000 Feb;47(2):249-53. doi: 10.1002/1531-8249(200002)47:2<249::aid-ana18>3.0.co;2-8. Ann Neurol. 2000. PMID: 10665499

7

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

Stanford PM, Halliday GM, Brooks WS, Kwok JB, Storey CE, Creasey H, Morris JG, Fulham MJ, Schofield PR. Stanford PM, et al. Among authors: schofield pr. Brain. 2000 May;123 ( Pt 5):880-93. doi: 10.1093/brain/123.5.880. Brain. 2000. PMID: 10775534

8

Variable phenotype of Alzheimer's disease with spastic paraparesis.

Smith MJ, Kwok JB, McLean CA, Kril JJ, Broe GA, Nicholson GA, Cappai R, Hallupp M, Cotton RG, Masters CL, Schofield PR, Brooks WS. Smith MJ, et al. Among authors: schofield pr. Ann Neurol. 2001 Jan;49(1):125-9. doi: 10.1002/1531-8249(200101)49:1<125::aid-ana21>3.0.co;2-1. Ann Neurol. 2001. PMID: 11198283

9

Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q.

Brodaty H, Mitchell P, Luscombe G, Kwok JJ, Badenhop RF, McKenzie R, Schofield PR. Brodaty H, et al. Among authors: schofield pr. Hum Genet. 2002 Jan;110(1):8-14. doi: 10.1007/s00439-001-0650-x. Epub 2001 Dec 4. Hum Genet. 2002. PMID: 11810290

10

A missense mutation in kynurenine aminotransferase-1 in spontaneously hypertensive rats.

Kwok JB, Kapoor R, Gotoda T, Iwamoto Y, Iizuka Y, Yamada N, Isaacs KE, Kushwaha VV, Church WB, Schofield PR, Kapoor V. Kwok JB, et al. Among authors: schofield pr. J Biol Chem. 2002 Sep 27;277(39):35779-82. doi: 10.1074/jbc.C200303200. Epub 2002 Jul 26. J Biol Chem. 2002. PMID: 12145272 Free article.

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