| 1 | CJD,PRNP
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| Phenotypic variability in familial prion diseases due to the D178N mutation.
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| Zarranz JJ, Digon A, Atares B, Rodriguez-Martinez AB, Arce A, Carrera N, Fernandez-Manchola I, Fernandez-Martinez M, Fernandez-Maiztegui C, Forcadas I, Galdos L, Gomez-Esteban JC, Ibanez A, Lezcano E, Lopez de Munain A, Marti-Masso JF, Mendibe MM, Urtasun M, Uterga JM, Saracibar N, Velasco F, de Pancorbo MM.
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| J Neurol Neurosurg Psychiatry 76(11):1491-6. 2005
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| 2 | CJD, PRNP
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| Identification of cryptic nuclear localization signals in the prion protein.
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| Gu Y, Hinnerwisch J, Fredricks R, Kalepu S, Mishra RS, Singh N.
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| Neurobiol Dis 12(2):133-49. 2003
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| 3 | CJD, PRNP
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| Rapidly progressive dementia syndrome associated with a novel four extra repeat mutation in the prion protein gene.
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| Yanagihara C, Yasuda M, Maeda K, Miyoshi K, Nishimura Y.
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| J Neurol Neurosurg Psychiatry 72(6):788-91. 2002
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| 4 | CJD, PRNP
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| Neuropathologic variants of sporadic Creutzfeldt-Jakob disease and codon 129 of PrP gene.
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| Hauw JJ, Sazdovitch V, Laplanche JL, Peoc'h K, Kopp N, Kemeny J, Privat N, Delasnerie-Laupretre N, Brandel JP, Deslys JP, Dormont D, Alperovitch A.
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| Neurology 54(8):1641-6. 2000
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| 5 | CJD, PRNP
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| Ancestral Origins and Worldwide Distribution of the PRNP 200K Mutation Causing Familial Creutzfeldt-Jakob Disease.
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| Lee HS, et al.
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| Am J Hum Genet 64(4):1063-1070. 1999
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| 6 | CJD, PRNP
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| A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein.
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| Hainfellner JA, et al.
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| Ann Neurol 45(6):812-6. 1999
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| 7 | CJD, PRNP
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| Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene.
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| Skworc KH, Windl O, Schulz-Schaeffer WJ, Giese A, Bergk J, Nagele A, Vieregge P, Zerr I, Poser S, Kretzschmar HA.
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| Ann Neurol 46(5):693-700 1999
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| 8 | CJD, PRNP
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| Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene.
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| Mallucci GR, Campbell TA, Dickinson A, Beck J, Holt M, Plant G, de Pauw KW, Hakin RN, Clarke CE, Howell S, Davies-Jones GA, Lawden M, Smith CM, Ince P, Ironside JW, Bridges LR, Dean A, Weeks I, Collinge J.
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| Brain 122 ( Pt 10):1823-37. 1999
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| 9 | CJD, PRNP
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| Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease.
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| Shibuya S, et al.
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| Ann Neurol 43 : 826-828. 1998
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| 10 | CJD, GSSS, PRNP
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| Familial mutations and the thermodynamic stability of the recombinant human prion protein.
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| Swietnicki W, Petersen RB, Gambetti P, Surewicz WK.
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| J Biol Chem 273 : 31048-31052. 1998
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| 11 | CJD, PRNP
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| Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family.
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| Capellari S, Vital C, Parchi P, Petersen RB, Ferrer X, Jarnier D, Pegoraro E, Gambetti P, Julien J.
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| Neurology 49(1):133-41. 1997
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| 12 | CJD, PRNP
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| A case of Creutzfeldt-Jakob disease with a point mutation at codon 232: correlation of MRI and neurologic findings.
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| Satoh A, Goto H, Satoh H, Tomita I, Seto M, Furukawa H, Tsujihata M.
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| Neurology 49(5):1469-70. 1997
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| 13 | PRNP, CJD
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| A prion disease with a novel 96-base pair insertional mutation in the prion protein gene.
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| Campbell TA, et al.
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| Neurology 46 : 761-766. 1996
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| 14 | CJD, PRNP
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| Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom : a systematic analysis of predisposing mutations and allelic variation in the PRNP gene.
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| Windl O, et al.
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| Hum Genet 98 : 259-264. 1996
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| 15 | CJD, PRNP
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| Mutation in the prion protein gene at codon 232 in Japanese patients with Creutzfeldt-Jakob disease : a clinicopathological, immunohistochemical and transmission study.
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| Hoque MZ, et al.
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| Acta Neuropathol 92 : 441-446. 1996
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| 16 | CJD, PRNP
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| Prion disease with 144 base pair insertion in a Japanese family line.
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| Oda T, et al.
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| Acta Neuropathol 90 : 80-86. 1995
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| 17 | PRNP, CJD
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| Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene.
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| Nicholl D, et al.
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| J Neurol Neurosurg Psychiatry 58 : 65-69. 1995
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| 18 | CJD, PRNP
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| Two novel insertions in the prion protein gene in patients with late-onset dementia.
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| Laplanche JL, et al.
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| Hum Mol Genet 4 : 1109-1111. 1995
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| 19 | CJD, GSSS, PRNP
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| Detecting prion protein gene mutations by denaturing gradient gel electrophoresis.
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| Fink JK, et al.
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| Hum Mutat 4 : 42-50. 1994
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| 20 | CJD, PRNP
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| A new point mutation in the prion protein gene at codon 210 in Creutzfeldt-Jakob disease.
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| Ripoll L, et al.
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| Neurology 43 : 1934-1938. 1993
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| 21 | CJD, PRNP
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| Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation.
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| Chapman J, et al.
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| J Neurol Neurosurg Psychiatry 56 : 1109-1112. 1993
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| 22 | CJD, PRNP
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| A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.
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| Pocchiari M, et al.
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| Ann Neurol 34 : 802-807. 1993
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| 23 | CJD, PRNP
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| A new inherited Prion disease (PrP-P105L mutation) showing spastic paraparesis.
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| Kitamoto T, et al.
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| Ann Neurol 34 : 808-813. 1993
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| 24 | CJD, PRNP
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| Double mutations at codon 180 and codon 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease.
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| Hitoshi S, et al.
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| J Neurol Sci 120 : 208-212. 1993
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| 25 | CJD, PRNP
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| Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-StrŠussler syndrome.
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| Kitamoto T, et al.
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| Biochem Biophys Res Commun 191 : 709-714. 1993
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| 26 | PRNP, CJD
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| Deletions in the prion protein gene are not associated with CJD.
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| Palmer MS, et al.
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| Hum Mol Genet 2 : 541-544. 1993
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| 27 | CJD, GSSS, PRNP
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| Mutations and polymorphisms in the prion protein gene.
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| Palmer MS, et al.
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| Hum Mutat 2 : 168-173. 1993
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| 28 | PRNP, CJD
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| Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD).
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| Gabizon R, et al.
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| Am J Hum Genet 53 : 828-835. 1993
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| 29 | CJD
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| Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutation.
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| Brown P, et al.
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| Ann Neurol 31 : 282-285. 1992
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| 30 | CJD
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| Uncommon phenotype for a codon 178 mutation of the human PrP gene.
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| Laplanche JL, et al.
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| Ann Neurol 31 : 345. 1992
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| 31 | CJD
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| Creutzfeldt-Jakob disea se cosegregates with the codon 178Asn PRNP mutation in families of European origin.
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| Goldfarb LG, et al.
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| Ann Neurol 31 : 274-281. 1992
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| 32 | CJD
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| Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene.
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| Brown P, et al.
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| Neurology 42 : 422-427. 1992
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| 33 | PRNP, CJD
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| Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy.
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| Bertoni JM, et al.
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| JAMA 268 : 2413-2415. 1992
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| 34 | CJD
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| Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease.
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| Collinge J, et al.
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| Lancet 337 : 1441-1442. 1991
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| 35 | CJD
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| Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease.
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| Palmer MS, et al.
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| Nature 352 : 340-342. 1991
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| 36 | CJD
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| Prion proteins in fibroblasts and leukocytes of patients with familial Creutzfeldt-Jakob disease carrying a mutation at codon 200 of the PrP gene.
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| Gabizon R, et al.
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| Am J Hum Genet 49S : 188. 1991
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| 37 | CJD
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| Familial Creutzfeldt-Jakob disease is associated with 3 separate mutations.
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| Goldfarb LG, et al.
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| Am J Hum Genet 49S : 188. 1991
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| 38 | CJD
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| Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.
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| Goldfarb LG, et al.
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| Proc Natl Acad Sci U S A 88 : 10926-10930. 1991
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| 39 | CJD
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| Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases.
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| Collinge J, et al.
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| Am J Hum Genet 49 : 1351-1354. 1991
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| 40 | CJD
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| The molecular genetics of familial Creutzfeldt-Jakob disease in France.
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| Brown P, et al.
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| J Neurol Sci 105 : 240-246. 1991
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| 41 | CJD
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| New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.
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| Goldfarb LG, et al.
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| Lancet 337 : 425. 1991
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| 42 | CJD
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| Codon 178 mutation in ethnically diverse Creutzfeldt-Jakob disease families.
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| Nieto A, et al.
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| Lancet 337 : 622-623. 1991
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| 43 | CJD, GSSS
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| Creutzfeldt-Jakob disease patients with congophilic kuru plaques have the missense variant prion protein common to Gerstmann-StrŠussler syndrome.
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| Dohura K, et al.
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| Ann Neurol 27 : 121-126. 1990
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| 44 | CJD
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| An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease.
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| Owen F, et al.
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| Brain Res Mol Brain Res 7 : 273-276. 1990
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| 45 | CJD
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| Deletion in prion protein gene in a Moroccan family.
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| Laplanche JL, et al.
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| Nucleic Acids Res 18 : 6745. 1990
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| 46 | CJD
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| Insertion in prion protein gene in familial Creutzfeldt-Jakob disease.
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| Owen F, Poulter M, Lofthouse R, Collinge J, Crow TJ, Risby D, Baker HF, Ridley RM, Hsiao K, Prusiner SB.
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| Lancet I : 51-52. 1989
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| 47 | CJD, GSSS
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| Patients with Creutzfeldt-Jakob disease and kuru lack the mutation in the PRIP gene found in Gerstmann-StrŠussler syndrome, but they show a different double-allele mutation in the same gene.
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| Goldfarb LG, et al.
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| Am J Hum Genet 45 : A189. 1989
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| 48 | CJD, GSSS, PRNP
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| Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-StrŠussler-Scheinker's syndrome.
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| Goldgaber D, et al.
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| Exp Neurol 106 : 204-206. 1989
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| 49 | CJD
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| Evidence suggesting that PrP is not the infectious agent in Creutzfeldt-Jakob disease.
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| Manuelidis L, et al.
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| EMBO J 6 : 341-347. 1987
|