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Publications
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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. 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. Neuroreport 8: 1537-1542, 1997 (PubMed ID: 9172170) |
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PSEN1:
(Met233Thr)
(Pro264Leu)
(Arg278Thr)
(Glu280Ala)
(Δ9)
(Δ9)
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ID: 25 | |
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Kwok JBJ, Smith MJ, Brooks WS, Kril J, Mclean C, Hallupp M, Schofield PR. Variable presentation of Alzheimer's disease and / or spastic paraparesis phenotypes in pedigrees with a novel PS-1 exon 9 gene deletion or exon 9 splice acceptor mutations. Neurobiology of Aging 21 Supp1: S25, 2000 |
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PSEN1:
(Δ9)
(Δ9)
(Δ9)
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ID: 99 | |
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Smith MJ, Kwok JBJ, McLean CA, Kril JJ, Broe GA, Nicholson GA, Cappai R, Hallupp M, Cotton RGH, Masters CL, Schofield PR, Brooks WS. Variable phenotype of Alzheimer's disease with spastic paraparesis. Annals of Neurology 49: 125-129, 2001 (PubMed ID: 11198283) |
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PSEN1:
(Δ9)
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ID: 108 | |
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Halliday GM, Song YJ, Lepar G, Brooks WS, Kwok JB, Kersaitis C, Gregory G, Shepherd CE, Rahimi F, Schofield PR, Kril JJ. Pick bodies in a family with presenilin-1 Alzheimer's disease. Annals of Neurology 57: 139-143, 2005 (PubMed ID: 15622541) |
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PSEN1:
(Met146Leu)
(Δ9)
(Δ9)
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ID: 385 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
Selection:
Publication ID In (99,25,108,385)
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