Validation of next-generation sequencing technologies in genetic diagnosis of dementia

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

Jennifer Gass, Ashley Cannon, Ian R. Mackenzie et al. · Human Molecular Genetics · 2006 · 578 citations

Life Sciences, Genetics, Molecular Genetics +17

<i>SQSTM1</i> mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Elisa Rubino, Innocenzo Rainero, Adriano Chiò et al. · Neurology · 2012 · 281 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Identification of New Presenilin Gene Mutations in Early-Onset Familial Alzheimer Disease

Andrea Tedde, Benedetta Nacmias, Monica Ciantelli et al. · Archives of Neurology · 2003 · 48 citations

Life Sciences, Genetics, Neurology +17

A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes

Jonathan D. Rohrer, Jason D. Warren, David Reiman et al. · Journal of Neurology · 2011 · 37 citations

Life Sciences, Genetics, Molecular Genetics +9

Familial Alzheimer's disease and inherited prion disease in the UK are poorly ascertained

James C. Stevens, J. A. Beck, Aleksandra Lukić et al. · Journal of Neurology Neurosurgery & Psychiatry · 2010 · 15 citations

Medicine, Genetics, Neurology +17