额颞叶痴呆综合征中的朊蛋白（PRNP）基因型 - Suppr | 超能文献

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1

Prion protein (PRNP) genotypes in frontotemporal lobar degeneration syndromes.额颞叶痴呆综合征中的朊蛋白（PRNP）基因型

Ann Neurol. 2006 Nov;60(5):616. doi: 10.1002/ana.20931.

2

De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.一名早发性痴呆的意大利患者中PRNP基因出现从头开始的七个额外重复序列扩展突变。

J Neurol Neurosurg Psychiatry. 2007 Dec;78(12):1411-3. doi: 10.1136/jnnp.2007.121137. Epub 2007 Aug 6.

3

Codon 219 in Creutzfeldt-Jakob disease in Poland.波兰克雅氏病中的第219位密码子。

Acta Neurobiol Exp (Wars). 2002;62(3):149-51. doi: 10.55782/ane-2002-1433.

4

Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family.具有PrP-P102L突变的格斯特曼-施特劳斯勒-谢克尔病的一种新临床表型——非典型额颞叶痴呆。一个此前未报道的意大利家族的描述。

Neurol Sci. 2008 Dec;29(6):405-10. doi: 10.1007/s10072-008-1025-z. Epub 2008 Nov 21.

5

Absence of association between codon 129 and 219 polymorphisms of the prion protein gene and vascular dementia.

Dement Geriatr Cogn Disord. 2007;24(2):86-90. doi: 10.1159/000103913. Epub 2007 Jun 14.

6

Polymorphism of PRNP codons in the normal Icelandic population.冰岛正常人群中PRNP密码子的多态性。

Acta Neurol Scand. 2006 Jun;113(6):419-25. doi: 10.1111/j.1600-0404.2006.00632.x.

7

Novel human pathological mutations. Gene symbol: PRNP. Disease: dementia.新型人类病理突变。基因符号：PRNP。疾病：痴呆症。

Hum Genet. 2007 Dec;122(5):545. doi: 10.1007/s00439-007-0423-2.

8

A case of dementia with PRNP D178Ncis-129M and no insomnia.一种不伴失眠的 PRNP D178Ncis-129M 杂合子相关的朊病毒病病例。

Alzheimer Dis Assoc Disord. 2009 Oct-Dec;23(4):415-7. doi: 10.1097/WAD.0b013e3181ae3a76.

9

Inherited prion disease with 5-OPRI: phenotype modification by repeat length and codon 129.伴有5-OPRI的遗传性朊病毒病：重复长度和密码子129对表型的修饰

Neurology. 2007 Aug 21;69(8):730-8. doi: 10.1212/01.wnl.0000267642.41594.9d.

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Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease.在散发性克雅氏病中未发现PRNP基因的219位密码子赖氨酸等位基因。

Ann Neurol. 1998 Jun;43(6):826-8. doi: 10.1002/ana.410430618.

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Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.C9ORF72基因重复扩增携带者中的遗传修饰因子。

Mol Neurodegener. 2014 Sep 20;9:38. doi: 10.1186/1750-1326-9-38.

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Are there susceptibility factors for primary progressive aphasia?原发性进行性失语症是否存在易感性因素？

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3

Association between the PRNP 1368 polymorphism and the occurrence of sporadic Creutzfeldt-Jakob disease.PRNP 1368 多态性与散发性克雅氏病发生的关联。