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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
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P. Hutton M, et al. Among authors: kwok jb. Nature. 1998 Jun 18;393(6686):702-5. doi: 10.1038/31508. Nature. 1998. PMID: 9641683
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
188 results