A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques

INTRODUCTION: Although TDP-43 is the main constituent of the ubiquitinated cytoplasmic inclusions in the most common forms of frontotemporal lobar degeneration, TARDBP mutations are not a common cause of familial frontotemporal dementia, especially in the absence of motor neuron disease. RESULTS: We...

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Detalles Bibliográficos
Autores principales: Moreno, Fermin, Rabinovici, Gil D, Karydas, Anna, Miller, Zachary, Hsu, Sandy Chan, Legati, Andrea, Fong, Jamie, Schonhaut, Daniel, Esselmann, Hermann, Watson, Christa, Stephens, Melanie L, Kramer, Joel, Wiltfang, Jens, Seeley, William W, Miller, Bruce L, Coppola, Giovanni, Grinberg, Lea Tenenholz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382926/
https://www.ncbi.nlm.nih.gov/pubmed/25853458
http://dx.doi.org/10.1186/s40478-015-0190-6

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