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Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D, Graff … See abstract for full author list ➔ Pottier C, et al. Among authors: kwok jb. Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30. Lancet Neurol. 2018. PMID: 29724592 Free PMC article.
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
Similar early clinical presentations in familial and non-familial frontotemporal dementia.
Piguet O, Brooks WS, Halliday GM, Schofield PR, Stanford PM, Kwok JB, Spillantini MG, Yancopoulou D, Nestor PJ, Broe GA, Hodges JR. Piguet O, et al. Among authors: kwok jb. J Neurol Neurosurg Psychiatry. 2004 Dec;75(12):1743-5. doi: 10.1136/jnnp.2003.031948. J Neurol Neurosurg Psychiatry. 2004. PMID: 15548495 Free PMC article.
186 results