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注意：仅列出部分参考文献，下载原文获取全部文献信息。Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders
Tibor Hortobagyi et al.
ACTA NEUROPATHOLOGICA (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
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Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p
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JOURNAL OF NEUROLOGY (2011)
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
Adam L. Boxer et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2011)
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study (vol 9, pg 986, 2010)
A. Shatunov et al.
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Characterizing the RNA targets and position-dependent splicing regulation by TDP-43
James R. Tollervey et al.
NATURE NEUROSCIENCE (2011)
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Mariely DeJesus-Hernandez et al.
NEURON (2011)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Alan E. Renton et al.
NEURON (2011)
Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43
Andrew King et al.
NEUROPATHOLOGY (2011)
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update
Ian R. A. Mackenzie et al.
ACTA NEUROPATHOLOGICA (2010)
Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration
Agnes L. Nishimura et al.
BRAIN (2010)
Mutations of optineurin in amyotrophic lateral sclerosis
Hirofumi Maruyama et al.
NATURE (2010)
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
Aleksey Shatunov et al.
LANCET NEUROLOGY (2010)
Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations
Ian R. A. Mackenzie et al.
ACTA NEUROPATHOLOGICA (2009)
Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation
Danielle Seilhean et al.
ACTA NEUROPATHOLOGICA (2009)
TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations
Satomi Maekawa et al.
NEUROPATHOLOGY (2009)
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Caroline Vance et al.
SCIENCE (2009)
TDP-43 mutation in familial amyotrophic lateral sclerosis
Akio Yokoseki et al.
ANNALS OF NEUROLOGY (2008)
Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease
Emanuele Buratti et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2008)
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions visualized with ubiquitin-binding protein p62 immunohistochemistry
Maria Pikkarainen et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2008)
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology:: a genetic and histopathological analysis
Vivianna M. Van Deerlin et al.
LANCET NEUROLOGY (2008)
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
Jemeen Sreedharan et al.
SCIENCE (2008)
p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy
Serhiy Pankiv et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration
Nigel J. Cairns et al.
ACTA NEUROPATHOLOGICA (2007)
TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions
Nigel J. Cairns et al.
AMERICAN JOURNAL OF PATHOLOGY (2007)
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Manuela Neumann et al.
SCIENCE (2006)
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Matt Baker et al.
NATURE (2006)
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3
C Vance et al.
BRAIN (2006)
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
MJ Greenway et al.
NATURE GENETICS (2006)
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
AL Nishimura et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
p62 is a common component of cytoplasmic inclusions in protein aggregation diseases
K Zatloukal et al.
AMERICAN JOURNAL OF PATHOLOGY (2002)
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