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Quoted phrase not found in phrase index: "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1"
Page 1
Characteristics of VCP mutation-associated cardiomyopathy.
Wang SC, Smith CD, Lombardo DM, Kimonis V. Wang SC, et al. Neuromuscul Disord. 2021 Aug;31(8):701-705. doi: 10.1016/j.nmd.2021.06.005. Epub 2021 Jun 12. Neuromuscul Disord. 2021. PMID: 34244020
VCP associated inclusion body myopathy, Paget's disease of bone, and Frontotemporal Dementia (IBMPFD, VCP disease, or multisystem proteinopathy type 1 (MSP1)) is an autosomal dominant disease caus …
VCP associated inclusion body myopathy, Paget's disease of bone, and Frontotemporal Deme …
Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.
Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis VE. Watts GD, et al. Clin Genet. 2007 Nov;72(5):420-6. doi: 10.1111/j.1399-0004.2007.00887.x. Clin Genet. 2007. PMID: 17935506
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD, OMIM 167320) has recently been attributed to eight missense mutations in valosin-containing protein (VCP). ...Front …
Inclusion body myopathy associated with Paget disease of bone and frontotemporal …
Clinical, Biochemical, Radiological, and Genetic Analyses of a Patient with VCP Gene Variant-Induced Paget's Disease of Bone.
Zhang Y, Gao P, Yan S, Zhang Q, Wang O, Jiang Y, Xing X, Xia W, Li M. Zhang Y, et al. Calcif Tissue Int. 2022 Apr;110(4):518-528. doi: 10.1007/s00223-021-00929-x. Epub 2021 Nov 20. Calcif Tissue Int. 2022. PMID: 34800131
Paget's disease of bone (PDB) is a rare metabolic bone disorder, which is extremely rare in Asian population. ...We also evaluated the effects of intravenous infusion of zoledronic acid on the bones of the patient and summarized the phenotypic characte …
Paget's disease of bone (PDB) is a rare metabolic bone disorder, which is extremely rare in Asian population. .. …
The Myoblast C2C12 Transfected with Mutant Valosin-Containing Protein Exhibits Delayed Stress Granule Resolution on Oxidative Stress.
Rodriguez-Ortiz CJ, Flores JC, Valenzuela JA, Rodriguez GJ, Zumkehr J, Tran DN, Kimonis VE, Kitazawa M. Rodriguez-Ortiz CJ, et al. Am J Pathol. 2016 Jun;186(6):1623-34. doi: 10.1016/j.ajpath.2016.02.007. Epub 2016 Apr 20. Am J Pathol. 2016. PMID: 27106764 Free PMC article.
Valosin-containing protein (VCP) mutations cause inclusion body myopathy with Paget disease and frontotemporal dementia. ...Mutant VCP produced more T-intracellular antigen-1-positive granules than wild-type in the po …
Valosin-containing protein (VCP) mutations cause inclusion body myopathy with Paget disease and fronto …
Valosin-containing protein (VCP) is a novel IQ motif-containing GTPase activating protein 1 (IQGAP1)-interacting protein.
Itoh N, Nagai T, Watanabe T, Taki K, Nabeshima T, Kaibuchi K, Yamada K. Itoh N, et al. Biochem Biophys Res Commun. 2017 Dec 2;493(4):1384-1389. doi: 10.1016/j.bbrc.2017.09.159. Epub 2017 Sep 29. Biochem Biophys Res Commun. 2017. PMID: 28970065
As a novel IQGAP1-interacting protein, we identified valosin-containing protein (VCP) which is a causative gene in patients with inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). ...W …
As a novel IQGAP1-interacting protein, we identified valosin-containing protein (VCP) which is a causative gene in patients with inclusio …
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His.
van der Zee J, Pirici D, Van Langenhove T, Engelborghs S, Vandenberghe R, Hoffmann M, Pusswald G, Van den Broeck M, Peeters K, Mattheijssens M, Martin JJ, De Deyn PP, Cruts M, Haubenberger D, Kumar-Singh S, Zimprich A, Van Broeckhoven C. van der Zee J, et al. Neurology. 2009 Aug 25;73(8):626-32. doi: 10.1212/WNL.0b013e3181b389d9. Neurology. 2009. PMID: 19704082 Clinical Trial.
BACKGROUND: Families associated with missense mutations in the valosin-containing protein (VCP) present with a rare autosomal dominant multisystem disorder of frontotemporal lobar degeneration (FTLD), inclusion body myopathy (IBM), and Paget …
BACKGROUND: Families associated with missense mutations in the valosin-containing protein (VCP) present with a rare autosomal dominant multi …