标题
Phenotypic variability in three families withvalosin-containing proteinmutation
作者
关键词
-
出版物
EUROPEAN JOURNAL OF NEUROLOGY
Volume 20, Issue 2, Pages 251-258
出版商
Wiley
发表日期
2012-08-20
DOI
10.1111/j.1468-1331.2012.03831.x
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Inclusion Body Myopathy With Paget Disease of Bone and Frontotemporal Dementia Linked to VCP p.Arg155Cys in a Korean Family
- (2011) Eun-Joo Kim et al. ARCHIVES OF NEUROLOGY
- Valosin Containing Protein Associated Fronto-Temporal Lobar Degeneration:Clinical Presentation, Pathologic Features and Pathogenesis
- (2011) C. C. Weihl Current Alzheimer Research
- Characterization of the Asian myopathy patients with VCP mutations
- (2011) Z. Shi et al. EUROPEAN JOURNAL OF NEUROLOGY
- The Multiple Faces of Valosin-Containing Protein-Associated Diseases: Inclusion Body Myopathy with Paget’s Disease of Bone, Frontotemporal Dementia, and Amyotrophic Lateral Sclerosis
- (2011) Angèle Nalbandian et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- Mutational analysis of the VCP gene in Parkinson's disease
- (2011) Elisa Majounie et al. NEUROBIOLOGY OF AGING
- VCP mutations in familial and sporadic amyotrophic lateral sclerosis
- (2011) Max Koppers et al. NEUROBIOLOGY OF AGING
- Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS
- (2011) M. DeJesus-Hernandez et al. NEUROLOGY
- Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family
- (2011) Johanna Palmio et al. NEUROMUSCULAR DISORDERS
- Valosin-containing protein mutation and Parkinson’s disease
- (2011) Nora Chan et al. PARKINSONISM & RELATED DISORDERS
- Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy
- (2010) J. S. Ju et al. HUMAN MOLECULAR GENETICS
- Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: Novel clinical and genetic findings
- (2010) Kishore R. Kumar et al. NEUROMUSCULAR DISORDERS
- Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
- (2010) Janel O. Johnson et al. NEURON
- Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease
- (2009) Jeong-Sun Ju et al. JOURNAL OF CELL BIOLOGY
- Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His
- (2009) J. van der Zee et al. NEUROLOGY
- Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia
- (2009) Tanya Stojkovic et al. NEUROMUSCULAR DISORDERS
- Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations
- (2008) Ian R. A. Mackenzie et al. ACTA NEUROPATHOLOGICA
- Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
- (2008) Virginia. E. Kimonis et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: Review of a unique disorder
- (2008) Virginia E. Kimonis et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation
- (2007) Anna Bersano et al. NEUROBIOLOGY OF AGING
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