Kwok JB - Search Results

1

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. 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

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: kwok jb. 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. 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: kwok jb. 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

Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22.

Baker M, Kwok JB, Kucera S, Crook R, Farrer M, Houlden H, Isaacs A, Lincoln S, Onstead L, Hardy J, Wittenberg L, Dodd P, Webb S, Hayward N, Tannenberg T, Andreadis A, Hallupp M, Schofield P, Dark F, Hutton M. Baker M, et al. Among authors: kwok jb. Ann Neurol. 1997 Nov;42(5):794-8. doi: 10.1002/ana.410420516. Ann Neurol. 1997. PMID: 9392579

6

Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease.

Taddei K, Kwok JB, Kril JJ, Halliday GM, Creasey H, Hallupp M, Fisher C, Brooks WS, Chung C, Andrews C, Masters CL, Schofield PR, Martins RN. Taddei K, et al. Among authors: kwok jb. Neuroreport. 1998 Oct 5;9(14):3335-9. doi: 10.1097/00001756-199810050-00034. Neuroreport. 1998. PMID: 9831473

7

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. 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

8

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: kwok jb. Brain. 2000 May;123 ( Pt 5):880-93. doi: 10.1093/brain/123.5.880. Brain. 2000. PMID: 10775534

9

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: kwok jb. 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

10

Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C.

Kwok JB, Raskin S, Morgan G, Antoniuk SA, Bruk I, Schofield PR. Kwok JB, et al. J Med Genet. 2001 Jun;38(6):E17. doi: 10.1136/jmg.38.6.e17. J Med Genet. 2001. PMID: 11389164 Free PMC article. No abstract available.

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