An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline. (Q42499208)

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English	An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.	scientific article

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18 January 2020

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline (English)

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amyotrophic lateral sclerosis

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Ammar Al-Chalabi

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Bradley N. Smith

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Stephen J. Newhouse

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Aleksey Shatunov

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Christopher Shaw

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Safa Al-Sarraj

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Lokesh Wijesekera

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László Siklós

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Christopher Bell

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Lauren Johnson

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Tibor Hortobágyi

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Nigel Leigh

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Andrew King

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19 December 2011

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18 January 2020

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease.

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

1 reference

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21 January 2018

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

1 reference

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21 January 2018

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

1 reference

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21 January 2018

Mutations of optineurin in amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Familial amyotrophic lateral sclerosis. A subgroup characterized by posterior and spinocerebellar tract involvement and hyaline inclusions in the anterior horn cells

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Two rapid and simple methods used for the removal of resins from 1.0 μm thick epoxy sections

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The use of lead citrate at high pH as an electron-opaque stain in electron microscopy

1 reference

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21 January 2018

Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

p62 Is a common component of cytoplasmic inclusions in protein aggregation diseases

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

TDP-43 mutation in familial amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

Mutations in all five exons ofSOD-1 may cause ALS

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111/J.1440-1789.2011.01286.X

21 January 2018

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