Mutations in PDYN are not responsible for multiple system atrophy.
作者信息
Fogel Brent L, Baker Cameron, Curnow Andrew, Perlman Susan L, Geschwind Daniel H, Coppola Giovanni
出版信息
J Neurol. 2013 Mar;260(3):927-8. doi: 10.1007/s00415-012-6830-x. Epub 2013 Jan 25.
Abstract
摘要
相似文献
1
Mutations in PDYN are not responsible for multiple system atrophy.PDYN基因的突变与多系统萎缩无关。
J Neurol. 2013 Mar;260(3):927-8. doi: 10.1007/s00415-012-6830-x. Epub 2013 Jan 25.
2
The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene.首例伴有PDYN基因新突变的日本23型脊髓小脑共济失调家族病例。
Parkinsonism Relat Disord. 2015 Mar;21(3):332-4. doi: 10.1016/j.parkreldis.2014.12.028. Epub 2015 Jan 3.
3
Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy.108例经神经病理学确诊的多系统萎缩病例中的葡萄糖脑苷脂酶突变
Neurology. 2009 Mar 31;72(13):1185-6. doi: 10.1212/01.wnl.0000345356.40399.eb.
4
Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe.PDYN基因（脊髓小脑共济失调23型，SCA23）突变并非中欧显性共济失调的常见病因。
Clin Genet. 2011 Nov;80(5):503-4. doi: 10.1111/j.1399-0004.2011.01651.x.
5
Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.鉴定和分析显性小脑共济失调病例中新型 PDYN 突变。
J Neurol. 2013 Jul;260(7):1807-12. doi: 10.1007/s00415-013-6882-6. Epub 2013 Mar 8.
6
Downregulation of the neuronal opioid gene expression concomitantly with neuronal decline in dorsolateral prefrontal cortex of human alcoholics.酒精中毒患者背外侧前额皮质神经元中阿片类基因表达下调与神经元减少同时发生。
Transl Psychiatry. 2018 Jun 20;8(1):122. doi: 10.1038/s41398-017-0075-5.
7
Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy.用于评估与多系统萎缩相关的COQ2变体的氧消耗率。
Neurogenetics. 2019 Mar;20(1):51-52. doi: 10.1007/s10048-018-0563-7. Epub 2019 Jan 7.
8
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.前强啡肽原突变导致神经退行性疾病脊髓小脑共济失调 23 型。
Am J Hum Genet. 2010 Nov 12;87(5):593-603. doi: 10.1016/j.ajhg.2010.10.001. Epub 2010 Oct 28.
9
Prodynorphin transcripts and proteins differentially expressed and regulated in the adult human brain.强啡肽原转录本和蛋白质在成人大脑中差异表达和调控。
FASEB J. 2005 Sep;19(11):1543-5. doi: 10.1096/fj.05-3743fje. Epub 2005 Jul 12.
10
Expanding the clinical phenotype of DYT5 mutations: is multiple system atrophy a possible one?扩展DYT5突变的临床表型：多系统萎缩有可能是吗？
Neurology. 2013 Jul 16;81(3):301-2. doi: 10.1212/WNL.0b013e31829bfd7c. Epub 2013 Jun 14.
引用本文的文献
1
Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family.由新型TGM6变异导致的35型脊髓小脑共济失调：一个德国家庭的视频记录
Mov Disord Clin Pract. 2023 Mar 27;10(6):1016-1019. doi: 10.1002/mdc3.13717. eCollection 2023 Jun.
2
Multiple System Atrophy: An Oligodendroglioneural Synucleinopathy1.多系统萎缩：一种少突胶质神经元核内包涵体病 1.
J Alzheimers Dis. 2018;62(3):1141-1179. doi: 10.3233/JAD-170397.
3
The neurogenetics of atypical parkinsonian disorders.非典型帕金森病的神经遗传学
Semin Neurol. 2014 Apr;34(2):217-24. doi: 10.1055/s-0034-1381738. Epub 2014 Jun 25.
本文引用的文献
1
The frequency of spinocerebellar ataxia type 23 in a UK population.23 型脊髓小脑共济失调在英国人群中的频率。
J Neurol. 2013 Mar;260(3):856-9. doi: 10.1007/s00415-012-6721-1. Epub 2012 Oct 30.
2
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.罕见的共济失调基因突变是散发性小脑共济失调的不常见病因。
Mov Disord. 2012 Mar;27(3):442-6. doi: 10.1002/mds.24064. Epub 2012 Jan 27.
3
Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe.PDYN基因（脊髓小脑共济失调23型，SCA23）突变并非中欧显性共济失调的常见病因。
Clin Genet. 2011 Nov;80(5):503-4. doi: 10.1111/j.1399-0004.2011.01651.x.
4
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.利用外显子组测序发现 TGM6 是一种新型的脊髓小脑共济失调致病基因。
Brain. 2010 Dec;133(Pt 12):3510-8. doi: 10.1093/brain/awq323. Epub 2010 Nov 23.
5
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.前强啡肽原突变导致神经退行性疾病脊髓小脑共济失调 23 型。
Am J Hum Genet. 2010 Nov 12;87(5):593-603. doi: 10.1016/j.ajhg.2010.10.001. Epub 2010 Oct 28.
6
Advances in understanding the molecular basis of FXTAS.理解脆性 X 智力低下震颤/共济失调综合征分子基础的进展。
Hum Mol Genet. 2010 Apr 15;19(R1):R83-9. doi: 10.1093/hmg/ddq166. Epub 2010 Apr 29.
7
Second consensus statement on the diagnosis of multiple system atrophy.关于多系统萎缩诊断的第二篇共识声明。
Neurology. 2008 Aug 26;71(9):670-6. doi: 10.1212/01.wnl.0000324625.00404.15.
8
Transglutaminase activity, protein, and mRNA expression are increased in progressive supranuclear palsy.在进行性核上性麻痹中，转谷氨酰胺酶活性、蛋白质及信使核糖核酸表达均增加。
J Neuropathol Exp Neurol. 2003 Feb;62(2):173-84. doi: 10.1093/jnen/62.2.173.
9
Transglutaminase-induced cross-linking of tau proteins in progressive supranuclear palsy.转谷氨酰胺酶诱导进行性核上性麻痹中tau蛋白的交联
J Neuropathol Exp Neurol. 2000 Nov;59(11):983-9. doi: 10.1093/jnen/59.11.983.
Zotero 插件