Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia

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

A brief cognitive test battery to differentiate Alzheimer's disease and frontotemporal dementia

PS Mathuranath, Peter J. Nestor, G. E. Berrios et al. · Neurology · 2000 · 1K citations

Medicine, Geriatric Medicine, Neurology +17

Disorders of Voluntary Muscle

The Medical Journal of Australia · 1965 · 591 citations

Medicine, Anatomy, Neuromuscular Disorders +2

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Peter Hackman, Anna Vihola, Henna Haravuori et al. · The American Journal of Human Genetics · 2002 · 484 citations · Full text

Medicine, Genetics, Molecular Genetics +9

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