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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
Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.
Kwok JB, Halliday GM, Brooks WS, Dolios G, Laudon H, Murayama O, Hallupp M, Badenhop RF, Vickers J, Wang R, Naslund J, Takashima A, Gandy SE, Schofield PR. Kwok JB, et al. Among authors: schofield pr. J Biol Chem. 2003 Feb 28;278(9):6748-54. doi: 10.1074/jbc.M211827200. Epub 2002 Dec 19. J Biol Chem. 2003. PMID: 12493737 Free article.
Genetic refinement and physical mapping of a 2.3 Mb probable disease region associated with a bipolar affective disorder susceptibility locus on chromosome 4q35.
Badenhop RF, Moses MJ, Scimone A, Adams LJ, Kwok JB, Jones AM, Davison G, Evans MR, Kirkby KC, Hewitt JE, Donald JA, Mitchell PB, Schofield PR. Badenhop RF, et al. Among authors: schofield pr. Am J Med Genet B Neuropsychiatr Genet. 2003 Feb;117B(1):23-32. doi: 10.1002/ajmg.b.10023. Am J Med Genet B Neuropsychiatr Genet. 2003. PMID: 12555231
485 results