由新型朊蛋白基因突变引起的格斯特曼-施特劳斯勒-谢inker病 - Suppr

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Gerstmann-Straussler-Scheinker disease due to a novel prion protein gene mutation.

作者信息

Hinnell C, Coulthart M B, Jansen G H, Cashman N R, Lauzon J, Clark A, Costello F, White C, Midha R, Wiebe S, Furtado S

机构信息

Area 3, University of Calgary Medical Centre, 3350 Hospital Dr., NW, Calgary, AB, T2N 4N1.

出版信息

Neurology. 2011 Feb 1;76(5):485-7. doi: 10.1212/WNL.0b013e31820a0ab2.

DOI:10.1212/WNL.0b013e31820a0ab2

PMID:21282596

Abstract

摘要

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相似文献

Gerstmann-Straussler-Scheinker disease due to a novel prion protein gene mutation.

Neurology. 2011 Feb 1;76(5):485-7. doi: 10.1212/WNL.0b013e31820a0ab2.

Gerstmann-Sträussler-Scheinker disease.

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

De novo P102L mutation in a patient with Gerstmann-Sträussler-Scheinker disease.

Eur J Neurol. 2011 Dec;18(12):e152-3. doi: 10.1111/j.1468-1331.2011.03531.x.

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Semin Neurol. 2000;20(3):337-52. doi: 10.1055/s-2000-9396.

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J Geriatr Psychiatry Neurol. 1998 Summer;11(2):78-97. doi: 10.1177/089198879801100206.

Unusual clinical and molecular-pathological profile of gerstmann-Sträussler-Scheinker disease associated with a novel PRNP mutation (V176G).

JAMA Neurol. 2013 Sep 1;70(9):1180-5. doi: 10.1001/jamaneurol.2013.165.

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J Geriatr Psychiatry Neurol. 2010 Dec;23(4):277-98. doi: 10.1177/0891988710383576. Epub 2010 Oct 11.

[Prion diseases in humans].

Zh Nevrol Psikhiatr Im S S Korsakova. 1998;98(1):61-6.

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Neurol India. 2020 Nov-Dec;68(6):1431-1434. doi: 10.4103/0028-3886.304068.

Gerstmann-Sträussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia.

Acta Neuropathol. 2005 Sep;110(3):317-9. doi: 10.1007/s00401-005-1054-0. Epub 2005 Jul 16.

引用本文的文献

Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.

Int J Mol Sci. 2019 Jul 23;20(14):3606. doi: 10.3390/ijms20143606.

Recent advances in the histo-molecular pathology of human prion disease.

Brain Pathol. 2019 Mar;29(2):278-300. doi: 10.1111/bpa.12695. Epub 2019 Jan 22.

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Acta Neuropathol. 2019 Feb;137(2):183-207. doi: 10.1007/s00401-018-1939-3. Epub 2018 Nov 26.

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PLoS Pathog. 2018 Jan 16;14(1):e1006826. doi: 10.1371/journal.ppat.1006826. eCollection 2018 Jan.

Genetic PrP Prion Diseases.

Cold Spring Harb Perspect Biol. 2018 May 1;10(5):a033134. doi: 10.1101/cshperspect.a033134.

Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

Am J Med Genet B Neuropsychiatr Genet. 2017 Jan;174(1):36-69. doi: 10.1002/ajmg.b.32505.

Prion protein scrapie and the normal cellular prion protein.

Prion. 2016;10(1):63-82. doi: 10.1080/19336896.2015.1110293.

The prion protein modulates A-type K+ currents mediated by Kv4.2 complexes through dipeptidyl aminopeptidase-like protein 6.

J Biol Chem. 2013 Dec 27;288(52):37241-55. doi: 10.1074/jbc.M113.488650. Epub 2013 Nov 13.