Citations for
1GSSS, PRNP
Gerstmann-Straussler-Scheinker disease due to a novel prion protein gene mutation.
Hinnell C, Coulthart MB, Jansen GH, Cashman NR, Lauzon J, Clark A, Costello F, White C, Midha R, Wiebe S, Furtado S.
Neurology 76(5):485-7. No abstract available. 2011
2GSSS, PRNP
Novel prion protein gene mutation presenting with subacute PSP-like syndrome.
Rowe DB, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ.
Neurology 68(11):868-70. 2007
3PRNP, GSSS
A new PRNP mutation (G131V) associated with Gerstmann-Straussler-Scheinker disease.
Panegyres PK, Toufexis K, Kakulas BA, Cernevakova L, Brown P, Ghetti B, Piccardo P, Dlouhy SR.
Arch Neurol 58(11):1899-902. 2001
4GSSS, PRNP
Novel PRNP sequence variant associated with familial encephalopathy.
Cervenakova L, Buetefisch C, Lee HS, Taller I, Stone G, Gibbs CJ Jr, Brown P, Hallett M, Goldfarb LG.
Am J Med Genet 88(6):653-6 1999
5GSSS, PRNP
Variant Gerstmann-Straussler syndrome with the P105L prion gene mutation: an unusual case with nigral degeneration and widespread neurofibrillary tangles.
Yamazaki M, Oyanagi K, Mori O, Kitamura S, Ohyama M, Terashi A, Kitamoto T, Katayama Y.
Acta Neuropathol (Berl) 98(5):506-11 1999
6GSSS, HDL1, PRNP
Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene.
Laplanche JL, Hachimi KH, Durieux I, Thuillet P, Defebvre L, Delasnerie-Laupretre N, Peoc'h K, Foncin JF, Destee A.
Brain 122 ( Pt 12):2375-86. 1999
7CJD, GSSS, PRNP
Familial mutations and the thermodynamic stability of the recombinant human prion protein.
Swietnicki W, Petersen RB, Gambetti P, Surewicz WK.
J Biol Chem 273 : 31048-31052. 1998
8GSSS, PRNP
Gerstmann-StrŠussler-Scheinker disease with the PRNP P102L, mutation and valine at codon 129.
Young K, et al.
Brain Res Mol Brain Res 44 : 147-150. 1997
9GSSS, PRNP
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).
Barbanti P, et al.
Neurology 47 : 734-741. 1996
10GSSS, PRNP
Gerstmann-StrŠussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.
Young K, et al.
Neurology 45 : 1127-1134. 1995
11CJD, GSSS, PRNP
Detecting prion protein gene mutations by denaturing gradient gel electrophoresis.
Fink JK, et al.
Hum Mutat 4 : 42-50. 1994
12GSSS, PRNP
A variant of Gerstmann-StrŠussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene : a clinicopathological study.
Itoh Y, et al.
J Neurol Sci 127 : 77-86. 1994
13PRNP, GSSS
An amber mutation of prion protein in Gerstmann-StrŠussler syndrome with mutant PrP plaques.
Kitamoto T, et al.
Biochem Biophys Res Commun 192 : 525-531. 1993
14CJD, GSSS, PRNP
Mutations and polymorphisms in the prion protein gene.
Palmer MS, et al.
Hum Mutat 2 : 168-173. 1993
15GSSS
Linkage of the Indiana kindred of Gerstmann-StrŠussler-Scheinker disease to the prion protein gene.
Dlouhy SR, et al.
Nat Genet 1 : 64-67. 1992
16GSSS
Mutant prion proteins in Gerstmann-StrŠussler-Scheinker disease with neurofibrillar tangles.
Hsiao K, et al.
Nat Genet 1 : 68-71. 1992
17GSSS
Prion protein mutation in family first reported by Gerstmann, StrŠussler, and Scheinker.
Kretzschmar HA, et al.
Lancet 337 : 1160. 1991
18GSSS
Clinical and molecular genetic study of a large German kindred with Gerstmann-StrŠussler-Scheinker syndrome.
Brown P, et al.
Neurology 41 : 375-379. 1991
19GSSS
A prion protein variant in a family with the telencephalic form of Gerstmann-StrŠussler-Scheinker syndrome.
Hsiao KK, et al.
Neurology 41 : 681-684. 1991
20GSSS
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.
Tagliavini F, et al.
EMBO J 10 : 513-519. 1991
21GSSS, PRNP
Support of linkage of Gerstmann-StrŠussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter.
Speer MC, et al.
Genomics 9 : 366-368. 1991
22CJD, GSSS
Creutzfeldt-Jakob disease patients with congophilic kuru plaques have the missense variant prion protein common to Gerstmann-StrŠussler syndrome.
Dohura K, et al.
Ann Neurol 27 : 121-126. 1990
23GSSS
Diagnosis of Gerstmann-Straussler syndrome in familial dementia with prion protein gene analysis.
Collinge J, Harding AE, Owen F, Poulter M, Lofthouse R, Boughey AM, Shah T, Crow TJ.
Lancet 2 : 15-17. 1989
24GSSS
Pro-Leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-StrŠussler syndrome.
Dohura K, et al.
Biochem Biophys Res Commun 163 : 974-979. 1989
25CJD, GSSS
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.
Am J Hum Genet 45 : A189. 1989
26GSSS
Alternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorder.
Rivera H, et al.
J Med Genet 26 : 626-630. 1989
27CJD, GSSS, PRNP
Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-StrŠussler-Scheinker's syndrome.
Goldgaber D, et al.
Exp Neurol 106 : 204-206. 1989