| 1 | GSSS, PRNP
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| Gerstmann-Straussler-Scheinker disease due to a novel prion protein gene mutation.
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| Hinnell C, Coulthart MB, Jansen GH, Cashman NR, Lauzon J, Clark A, Costello F, White C, Midha R, Wiebe S, Furtado S.
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| Neurology 76(5):485-7. No abstract available.
2011
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| 2 | GSSS, PRNP
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| Novel prion protein gene mutation presenting with subacute PSP-like syndrome.
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| Rowe DB, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ.
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| Neurology 68(11):868-70.
2007
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| 3 | PRNP, GSSS
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| A new PRNP mutation (G131V) associated with Gerstmann-Straussler-Scheinker disease.
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| Panegyres PK, Toufexis K, Kakulas BA, Cernevakova L, Brown P, Ghetti B, Piccardo P, Dlouhy SR.
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| Arch Neurol 58(11):1899-902. 2001
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| 4 | GSSS, PRNP
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| Novel PRNP sequence variant associated with familial encephalopathy.
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| Cervenakova L, Buetefisch C, Lee HS, Taller I, Stone G, Gibbs CJ Jr, Brown P, Hallett M, Goldfarb LG.
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| Am J Med Genet 88(6):653-6 1999
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| 5 | GSSS, PRNP
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| Variant Gerstmann-Straussler syndrome with the P105L prion gene mutation: an unusual case with nigral degeneration and widespread neurofibrillary tangles.
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| Yamazaki M, Oyanagi K, Mori O, Kitamura S, Ohyama M, Terashi A, Kitamoto T, Katayama Y.
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| Acta Neuropathol (Berl) 98(5):506-11 1999
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| 6 | GSSS, HDL1, PRNP
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| Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene.
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| Laplanche JL, Hachimi KH, Durieux I, Thuillet P, Defebvre L, Delasnerie-Laupretre N, Peoc'h K, Foncin JF, Destee A.
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| Brain 122 ( Pt 12):2375-86. 1999
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| 7 | 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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| 8 | GSSS, PRNP
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| Gerstmann-StrŠussler-Scheinker disease with the PRNP P102L, mutation and valine at codon 129.
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| Young K, et al.
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| Brain Res Mol Brain Res 44 : 147-150. 1997
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| 9 | GSSS, PRNP
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| Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-StrŠussler-Scheinker disease (PrP-P102L mutation).
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| Barbanti P, et al.
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| Neurology 47 : 734-741. 1996
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| 10 | GSSS, PRNP
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| Gerstmann-StrŠussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.
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| Young K, et al.
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| Neurology 45 : 1127-1134. 1995
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| 11 | 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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| 12 | GSSS, PRNP
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| A variant of Gerstmann-StrŠussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene : a clinicopathological study.
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| Itoh Y, et al.
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| J Neurol Sci 127 : 77-86. 1994
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| 13 | PRNP, GSSS
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| An amber mutation of prion protein in Gerstmann-StrŠussler syndrome with mutant PrP plaques.
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| Kitamoto T, et al.
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| Biochem Biophys Res Commun 192 : 525-531. 1993
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| 14 | CJD, GSSS, PRNP
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| Mutations and polymorphisms in the prion protein gene.
|
| Palmer MS, et al.
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| Hum Mutat 2 : 168-173. 1993
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| 15 | GSSS
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| Linkage of the Indiana kindred of Gerstmann-StrŠussler-Scheinker disease to the prion protein gene.
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| Dlouhy SR, et al.
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| Nat Genet 1 : 64-67. 1992
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| 16 | GSSS
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| Mutant prion proteins in Gerstmann-StrŠussler-Scheinker disease with neurofibrillar tangles.
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| Hsiao K, et al.
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| Nat Genet 1 : 68-71. 1992
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| 17 | GSSS
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| Prion protein mutation in family first reported by Gerstmann, StrŠussler, and Scheinker.
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| Kretzschmar HA, et al.
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| Lancet 337 : 1160. 1991
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| 18 | GSSS
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| Clinical and molecular genetic study of a large German kindred with Gerstmann-StrŠussler-Scheinker syndrome.
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| Brown P, et al.
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| Neurology 41 : 375-379. 1991
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| 19 | GSSS
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| A prion protein variant in a family with the telencephalic form of Gerstmann-StrŠussler-Scheinker syndrome.
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| Hsiao KK, et al.
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| Neurology 41 : 681-684. 1991
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| 20 | GSSS
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| Amyloid protein of Gerstmann-StrŠussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58.
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| Tagliavini F, et al.
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| EMBO J 10 : 513-519. 1991
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| 21 | GSSS, PRNP
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| Support of linkage of Gerstmann-StrŠussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter.
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| Speer MC, et al.
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| Genomics 9 : 366-368. 1991
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| 22 | 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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| 23 | GSSS
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| Diagnosis of Gerstmann-Straussler syndrome in familial dementia with prion protein gene analysis.
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| Collinge J, Harding AE, Owen F, Poulter M, Lofthouse R, Boughey AM, Shah T, Crow TJ.
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| Lancet 2 : 15-17. 1989
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| 24 | GSSS
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| Pro-Leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-StrŠussler syndrome.
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| Dohura K, et al.
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| Biochem Biophys Res Commun 163 : 974-979. 1989
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| 25 | 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.
|
| Goldfarb LG, et al.
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| Am J Hum Genet 45 : A189. 1989
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| 26 | GSSS
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| Alternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorder.
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| Rivera H, et al.
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| J Med Genet 26 : 626-630. 1989
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| 27 | 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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