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Results: 1 to 20 of 25

1.

Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.

Jansen C, Parchi P, Capellari S, Vermeij AJ, Corrado P, Baas F, Strammiello R, van Gool WA, van Swieten JC, Rozemuller AJ.

Acta Neuropathol. 2010 Feb;119(2):189-97. doi: 10.1007/s00401-009-0609-x. Epub 2009 Nov 13.

PMID:
19911184
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Hereditary prion protein amyloidoses.

Ghetti B, Tagliavini F, Takao M, Bugiani O, Piccardo P.

Clin Lab Med. 2003 Mar;23(1):65-85, viii. Review.

PMID:
12733425
[PubMed - indexed for MEDLINE]
3.

Prion protein amyloidosis.

Ghetti B, Piccardo P, Frangione B, Bugiani O, Giaccone G, Young K, Prelli F, Farlow MR, Dlouhy SR, Tagliavini F.

Brain Pathol. 1996 Apr;6(2):127-45. Review.

PMID:
8737929
[PubMed - indexed for MEDLINE]
4.

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.

Jansen C, Voet W, Head MW, Parchi P, Yull H, Verrips A, Wesseling P, Meulstee J, Baas F, van Gool WA, Ironside JW, Rozemuller AJ.

Acta Neuropathol. 2011 Jan;121(1):59-68. doi: 10.1007/s00401-010-0656-3. Epub 2010 Mar 3. Review.

PMID:
20198483
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

[Gerstmann-Straüssler-Scheinker syndrome].

Tranchant C, Warter JM.

Rev Neurol (Paris). 1998 Feb;154(2):152-7. Review. French.

PMID:
9773036
[PubMed - indexed for MEDLINE]
6.

Gerstmann-Sträussler-Scheinker disease and the Indiana kindred.

Ghetti B, Dlouhy SR, Giaccone G, Bugiani O, Frangione B, Farlow MR, Tagliavini F.

Brain Pathol. 1995 Jan;5(1):61-75. Review.

PMID:
7767492
[PubMed - indexed for MEDLINE]
7.

[Genetic background of human prion diseases].

Kovács GG.

Ideggyogy Sz. 2007 Nov 30;60(11-12):438-46. Review. Hungarian.

PMID:
18198790
[PubMed - indexed for MEDLINE]
8.

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

Itoh Y, Yamada M, Hayakawa M, Shozawa T, Tanaka J, Matsushita M, Kitamoto T, Tateishi J, Otomo E.

J Neurol Sci. 1994 Dec 1;127(1):77-86. Review.

PMID:
7699395
[PubMed - indexed for MEDLINE]
9.

Gerstmann-Sträussler-Scheinker disease.

Liberski PP.

Adv Exp Med Biol. 2012;724:128-37. doi: 10.1007/978-1-4614-0653-2_10. Review.

PMID:
22411239
[PubMed - indexed for MEDLINE]
10.

An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity.

Yamada M, Itoh Y, Inaba A, Wada Y, Takashima M, Satoh S, Kamata T, Okeda R, Kayano T, Suematsu N, Kitamoto T, Otomo E, Matsushita M, Mizusawa H.

Neurology. 1999 Jul 13;53(1):181-8. Review.

PMID:
10408557
[PubMed - indexed for MEDLINE]
11.

Intracerebral distribution of the abnormal isoform of the prion protein in sporadic Creutzfeldt-Jakob disease and fatal insomnia.

Parchi P, Capellari S, Gambetti P.

Microsc Res Tech. 2000 Jul 1;50(1):16-25. Review.

PMID:
10871544
[PubMed - indexed for MEDLINE]
12.

Neuropathology of Gerstmann-Sträussler-Scheinker disease.

Bugiani O, Giaccone G, Piccardo P, Morbin M, Tagliavini F, Ghetti B.

Microsc Res Tech. 2000 Jul 1;50(1):10-5. Review.

PMID:
10871543
[PubMed - indexed for MEDLINE]
13.

Familial Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles.

Ghetti B, Tagliavini F, Giaccone G, Bugiani O, Frangione B, Farlow MR, Dlouhy SR.

Mol Neurobiol. 1994 Feb;8(1):41-8. Review.

PMID:
7916191
[PubMed - indexed for MEDLINE]
14.

Hereditary Creutzfeldt-Jakob disease and fatal familial insomnia.

Gambetti P, Parchi P, Chen SG.

Clin Lab Med. 2003 Mar;23(1):43-64. Review.

PMID:
12733424
[PubMed - indexed for MEDLINE]
15.

Prion protein transgenes and the neuropathology in prion diseases.

DeArmond SJ, Prusiner SB.

Brain Pathol. 1995 Jan;5(1):77-89. Review.

PMID:
7767493
[PubMed - indexed for MEDLINE]
16.

Molecular approaches to mechanisms of prion diseases.

Bratosiewicz-Wasik J, Wasik TJ, Liberski PP.

Folia Neuropathol. 2004;42 Suppl A:33-46. Review.

PMID:
15449458
[PubMed - indexed for MEDLINE]
17.

Gerstmann-Sträussler-Scheinker disease. I. Human diseases.

Liberski PP, Budka H.

Folia Neuropathol. 2004;42 Suppl B:120-40. Review.

PMID:
16903147
[PubMed - indexed for MEDLINE]
18.

PrP knock-out and PrP transgenic mice in prion research.

Weissmann C, Flechsig E.

Br Med Bull. 2003;66:43-60. Review.

PMID:
14522848
[PubMed - indexed for MEDLINE]
19.

The prion gene complex encoding PrP(C) and Doppel: insights from mutational analysis.

Mastrangelo P, Westaway D.

Gene. 2001 Sep 5;275(1):1-18. Review.

PMID:
11574147
[PubMed - indexed for MEDLINE]
20.

[Molecular genetics in Creutzfeldt-Jakob disease].

Kitamoto T.

Rinsho Shinkeigaku. 1994 Dec;34(12):1222-3. Review. Japanese.

PMID:
7774117
[PubMed - indexed for MEDLINE]
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