Article
No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy.
Neurobiology of aging - 1 Aug 2014
Seelen Meinie, Visser Anne E, Overste Daniel J, Kim Hong J, Palud A, Wong Tsz H, van Swieten John C, Scheltens Philip, Voermans Nicol C, Baas Frank, de Jong J M B V, van der Kooi Anneke J, de Visser Marianne, Veldink Jan H, Taylor J Paul, Van Es Michael A, van den Berg Leonard H
Abstract excerpt
Inclusion body myopathy (IBM) associated with Paget disease of the bone, frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS), sometimes called IBMPFD/ALS or multi system proteinopathy, is a rare, autosomal dominant disorder characterized by progressive degeneration of muscle, brain, motor neurons, and bone with prominent TDP-43 pathology. Recently, 2 novel genes for multi system proteinopathy...
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