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

被引：0
|
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.
机构：
来源：
ANNALS OF NEUROLOGY | 2016年 / 80卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
M228
引用
收藏
页码：S201 / S202
页数：2
相关论文
共 50 条
  • [1] Filamin and Valosin Containing Protein (VCP) interaction in Inclusion Body Myositis.
    Britson, K.
    Michelle, E. H.
    Castro, C.
    Aksentijevich, I.
    Schiffenbauer, A.
    Mankodi, A.
    Kastner, D.
    Mammen, A.
    Weihl, C. C.
    Siegel, R.
    Lloyd, T. E.
    MOLECULAR BIOLOGY OF THE CELL, 2017, 28
  • [2] Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy
    Jake B. Guinto
    Gillian P. Ritson
    J. Paul Taylor
    Mark S. Forman
    Acta Neuropathologica, 2007, 114 : 55 - 61
  • [3] Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy
    Guinto, Jake B.
    Ritson, Gillian P.
    Taylor, J. Paul
    Forman, Mark S.
    ACTA NEUROPATHOLOGICA, 2007, 114 (01) : 55 - 61
  • [4] Nuclear localization of valosin-containing protein in normal muscle and muscle affected by inclusion-body myositis
    Greenberg, Steven A.
    Watts, Giles D.
    Kimonis, Virginia E.
    Amato, Anthony A.
    Pinkus, Jack L.
    MUSCLE & NERVE, 2007, 36 (04) : 447 - 454
  • [5] Novel valosin-containing protein mutations associated with multisystem proteinopathy
    Al-Tahan, Sejad
    Al-Obeidi, Ebaa
    Yoshioka, Hiroshi
    Lakatos, Anita
    Weiss, Lan
    Grafe, Marjorie
    Palmio, Johanna
    Wicklund, Matt
    Harati, Yadollah
    Omizo, Molly
    Udd, Bjarne
    Kimonis, Virginia
    NEUROMUSCULAR DISORDERS, 2018, 28 (06) : 491 - 501
  • [6] VALOSIN CONTAINING PROTEIN (VCP) AND MYOFIBRILLAR MYOPATHIES (MFM) GENES' MUTATIONS ARE NOT ASSOCIATED WITH SPORADIC INCLUSION BODY MYOSITIS (sIBM)
    Machado, P.
    Hudson, J.
    Miller, A.
    Morrow, J.
    Parton, M.
    Bushby, K.
    Hanna, M.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2012, 83 (03):
  • [7] mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy
    Ching, James K.
    Elizabeth, Sarita V.
    Ju, Jeong-Sun
    Lusk, Caleb
    Pittman, Sara K.
    Weihl, Conrad C.
    HUMAN MOLECULAR GENETICS, 2013, 22 (06) : 1167 - 1179
  • [8] Valosin-containing protein (VCP) is focally accumulated and associated with amyloid-β (Aβ) in sporadic inclusion-body myositis (s-IBM) muscle fibers
    McFerrin, J
    Engel, WK
    Askanas, V
    NEUROLOGY, 2005, 64 (06) : A337 - A337
  • [9] Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
    Giles D J Watts
    Jill Wymer
    Margaret J Kovach
    Sarju G Mehta
    Steven Mumm
    Daniel Darvish
    Alan Pestronk
    Michael P Whyte
    Virginia E Kimonis
    Nature Genetics, 2004, 36 : 377 - 381
  • [10] Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
    Watts, GDJ
    Wymer, J
    Kovach, MJ
    Mehta, SG
    Mumm, S
    Darvish, D
    Pestronk, A
    Whyte, MP
    Kimonis, VE
    NATURE GENETICS, 2004, 36 (04) : 377 - 381
12345