Familial Inclusion Body Myositis Associated with Digenic Inheritance of Mutations in Valosin-Containing Protein and Filamin C

Michelle Elizabeth H.; Castro Christine; Aksentijevich Ivona; Schiffenbauer Adam; Zhou Qing; Remmers Elaine F.; Deng Zuoming; Katz James D.; Mankodi Ami; Kastner Daniel; Mammen Andrew; Weihl Conrad C.; Siegel Richard; Lloyd Thomas E.

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Familial Inclusion Body Myositis Associated with Digenic Inheritance of Mutations in Valosin-Containing Protein and Filamin C

机译：家族包涵体肌炎与Valosin包含蛋白和丝蛋白C突变的双基因遗传有关。

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来源
《Annals of neurology》 |2016年第s20期|共2页
作者
Michelle Elizabeth H.; Castro Christine; Aksentijevich Ivona; Schiffenbauer Adam; Zhou Qing; Remmers Elaine F.; Deng Zuoming; Katz James D.; Mankodi Ami; Kastner Daniel; Mammen Andrew; Weihl Conrad C.; Siegel Richard; Lloyd Thomas E.;
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正文语种 eng
中图分类神经病学;
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1. Familial Inclusion Body Myositis Associated with Digenic Inheritance of Mutations in Valosin-Containing Protein and Filamin C [J] . Michelle Elizabeth H., Castro Christine, Aksentijevich Ivona, Annals of neurology . 2016,第S20期

机译：家族包涵体肌炎与Valosin包含蛋白和丝蛋白C突变的双基因遗传有关。
2. Nuclear localization of valosin-containing protein in normal muscle and muscle affected by inclusion-body myositis. [J] . Greenberg SA, Watts GD, Kimonis VE, Muscle and Nerve . 2007,第4期

机译：正常肌和受包涵体肌炎影响的肌肉中含缬氨酸蛋白的核定位。
3. HEREDITARY INCLUSION BODY MYOPATHY WITHOUT PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA ASSOCIATED WITH VALOSIN-CONTAINING PROTEIN MUTATION: A CASE REPORT [J] . Pack Katrina, Walsh Alison, Rakocevic Goran Muscle and Nerve . 2015,第S2期

机译：遗传性肌无肌病，伴有缬沙蛋白的蛋白质突变，未发生疾病和前颞叶痴呆：一例病例报告
4. Ion Mobility-Mass Spectrometry Reveals the Early Assembly of Amyloid γ-Protein: The Effects of Familial Mutations A2T and A2V [C] . Xueyun Zheng, David Teplow, Michael T. Bowers ASMS Conference on Mass Spectrometry and Allied Topics . 2015

机译：离子迁移率 - 质谱显示淀粉样蛋白γ-蛋白的早期组装：家族性突变A2T和A2V的影响
5. Familial Alzheimer's disease mutations decrease gamma-secretase processing of beta amyloid precursor protein. [D] . Wiley, Jesse Carey. 2003

机译：家族性阿尔茨海默氏病突变减少了β淀粉样蛋白前体蛋白的γ-分泌酶加工。
6. Association of Active Extracellular Signal-Regulated Protein Kinase with Paired Helical Filaments of Inclusion-Body Myositis Muscle Suggests Its Role in Inclusion-Body Myositis Tau Phosphorylation [O] . Grzegorz M. Wilczynski, W. King Engel, Valerie Askanas 2000

机译：活跃的细胞外信号调节蛋白激酶与包涵体肌炎肌肉的成对螺旋丝的关联表明其在包涵体肌炎Tau磷酸化中的作用
7. An inflammatory, familial, inclusion body myositis with autoimmune features and a phenotype identical to sporadic inclusion body myositis. Studies in three families [O] . K Sivakumar 1997

机译：具有自身免疫特征的炎症，家族，包容体肌炎和与散孔包涵体肌炎相同的表型。三个家庭的研究

Familial Inclusion Body Myositis Associated with Digenic Inheritance of Mutations in Valosin-Containing Protein and Filamin C

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