Literature DB >> 21426368

A case of Gerstmann-Sträussler-Scheinker disease with a novel six octapeptide repeat insertion.

A Vital, J-L Laplanche, J-R Bastard, X Xiao, W-Q Zou, C Vital.   

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Year:  2011        PMID： 21426368      PMCID： PMC3135713          DOI： 10.1111/j.1365-2990.2011.01174.x

Source DB:  PubMed          Journal:  Neuropathol Appl Neurobiol        ISSN： 0305-1846            Impact factor:   8.090


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  30 in total

1.  The primary structure of the prion protein influences the distribution of abnormal prion protein in the central nervous system.

Authors:  T Kitamoto; K Doh-ura; T Muramoto; M Miyazono; J Tateishi
Journal:  Am J Pathol       Date:  1992-08       Impact factor: 4.307

2.  Immunochemical, molecular genetic, and transmission studies on a case of Gerstmann-Sträussler-Scheinker syndrome.

Authors:  J Tateishi; T Kitamoto; K Doh-ura; Y Sakaki; G Steinmetz; C Tranchant; J M Warter; N Heldt
Journal:  Neurology       Date:  1990-10       Impact factor: 9.910

3.  A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region required for infectivity, is the major amyloid protein in Gerstmann-Sträussler-Scheinker disease A117V.

Authors:  F Tagliavini; P M Lievens; C Tranchant; J M Warter; M Mohr; G Giaccone; F Perini; G Rossi; M Salmona; P Piccardo; B Ghetti; R C Beavis; O Bugiani; B Frangione; F Prelli
Journal:  J Biol Chem       Date:  2000-11-21       Impact factor: 5.157

4.  Prion disease (PrP-A117V) presenting with ataxia instead of dementia.

Authors:  J A Mastrianni; M T Curtis; J C Oberholtzer; M M Da Costa; S DeArmond; S B Prusiner; J Y Garbern
Journal:  Neurology       Date:  1995-11       Impact factor: 9.910

Review 5.  A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study.

Authors:  Y Itoh; M Yamada; M Hayakawa; T Shozawa; J Tanaka; M Matsushita; T Kitamoto; J Tateishi; E Otomo
Journal:  J Neurol Sci       Date:  1994-12-01       Impact factor: 3.181

6.  The original Gerstmann-Sträussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype.

Authors:  J A Hainfellner; S Brantner-Inthaler; L Cervenáková; P Brown; T Kitamoto; J Tateishi; H Diringer; P P Liberski; H Regele; M Feucht
Journal:  Brain Pathol       Date:  1995-07       Impact factor: 6.508

7.  [Gerstmann-Sträussler-Scheinker disease. Anatomoclinical and genealogical study].

Authors:  J F Foncin; J L Cardot; Y Martinet; G Arnott
Journal:  Rev Neurol (Paris)       Date:  1982       Impact factor: 2.607

8.  An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Sträussler-Scheinker family.

Authors:  L G Goldfarb; P Brown; A Vrbovská; H Baron; W R McCombie; F Cathala; C J Gibbs; D C Gajdusek
Journal:  J Neurol Sci       Date:  1992-09       Impact factor: 3.181

Review 9.  [Gerstmann-Sträussler-Scheinker disease. Pathologal and genetic study].

Authors:  R Genthon; F Gray; J Salama; C Duyckaerts; C Belin; J M Brucher; H Baron; P Delaporte
Journal:  Rev Neurol (Paris)       Date:  1992       Impact factor: 2.607

Review 10.  A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature.

Authors:  Casper Jansen; Willem Voet; Mark W Head; Piero Parchi; Helen Yull; Aad Verrips; Pieter Wesseling; Jan Meulstee; Frank Baas; Willem A van Gool; James W Ironside; Annemieke J M Rozemuller
Journal:  Acta Neuropathol       Date:  2010-03-03       Impact factor: 17.088
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  2 in total

Review 1.  Hereditary Human Prion Diseases: an Update.

Authors:  Matthias Schmitz; Kathrin Dittmar; Franc Llorens; Ellen Gelpi; Isidre Ferrer; Walter J Schulz-Schaeffer; Inga Zerr
Journal:  Mol Neurobiol       Date:  2016-06-20       Impact factor: 5.590

2.  Protease-sensitive prions with 144-bp insertion mutations.

Authors:  Xiangzhu Xiao; Ignazio Cali; Zhiqian Dong; Gianfranco Puoti; Jue Yuan; Liuting Qing; Heming Wang; Qingzhong Kong; Pierluigi Gambetti; Wen-Quan Zou
Journal:  Aging (Albany NY)       Date:  2013-03       Impact factor: 5.682
  2 in total

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