Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease-Reference-Cited by-同舟云学术

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

Published:2015-05-06 Issue:1 Volume:130 Page:77-92
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Pottier Cyril,Bieniek Kevin F.,Finch NiCole,van de Vorst Maartje,Baker Matt,Perkersen Ralph,Brown Patricia,Ravenscroft Thomas,van Blitterswijk Marka,Nicholson Alexandra M.,DeTure Michael,Knopman David S.,Josephs Keith A.,Parisi Joseph E.,Petersen Ronald C.,Boylan Kevin B.,Boeve Bradley F.,Graff-Radford Neill R.,Veltman Joris A.,Gilissen Christian,Murray Melissa E.,Dickson Dennis W.,Rademakers Rosa

Funder

National Institutes of Health

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00401-015-1436-x.pdf

Reference61 articles.

1. Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobagyi T, Shaw CE (2011) p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathol 122:691–702. doi: 10.1007/s00401-011-0911-2

2. Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, Mori H, Mann D, Tsuchiya K, Yoshida M, Hashizume Y, Oda T (2006) TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 351:602–611. doi: 10.1016/j.bbrc.2006.10.093

3. Arai T, Nonaka T, Hasegawa M, Akiyama H, Yoshida M, Hashizume Y, Tsuchiya K, Oda T, Ikeda K (2003) Neuronal and glial inclusions in frontotemporal dementia with or without motor neuron disease are immunopositive for p62. Neurosci Lett 342:41–44