Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

Giles D. Watts, Jill Wymer, Margaret J. Kovach et al. · Nature Genetics · 2004 · 1.4K citations · Full text

Medicine, Genetics, Neurology +13

AAA-ATPase p97/Cdc48p, a Cytosolic Chaperone Required for Endoplasmic Reticulum-Associated Protein Degradation

E Rabinovich, Anat Kerem, Kai‐Uwe Fröhlich et al. · Molecular and Cellular Biology · 2002 · 545 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +15

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

Jeong-Sun Ju, Rodrigo A. Fuentealba, Sara Miller et al. · The Journal of Cell Biology · 2009 · 489 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

Novel Ubiquitin Neuropathology in Frontotemporal Dementia With<i>Valosin-Containing Protein</i>Gene Mutations

Mark S. Forman, Ian R. Mackenzie, Nigel J. Cairns et al. · Journal of Neuropathology & Experimental Neurology · 2006 · 222 citations · Full text

Medicine, Neurology, Pathology +17

Clinical Delineation and Localization to Chromosome 9p13.3–p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia

Margaret J. Kovach, Brook Waggoner, Suzanne M. Leal et al. · Molecular Genetics and Metabolism · 2001 · 198 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15