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Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

Cell reports (Cambridge), 2013-12, Vol.5 (5), p.1178-1186

2013

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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 neuropathologica, 2011-12, Vol.122 (6), p.691-702

2011

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A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

Brain (London, England : 1878), 2017-06, Vol.140 (6), p.1611-1618

2017

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C9orf72 intermediate expansions of 24-30 repeats are associated with ALS

Acta neuropathologica communications, 2019-07, Vol.7 (1), p.115-7, Article 115

2019

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Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations

PloS one, 2013-10, Vol.8 (10), p.e76055-e76055

2013

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

Lancet neurology, 2010-10, Vol.9 (10), p.986-994

2010

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The evaluation of pain in amyotrophic lateral sclerosis: A case controlled observational study

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2014-12, Vol.15 (7-8), p.520-527

2014

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Latent cluster analysis of ALS phenotypes identifies prognostically differing groups

PloS one, 2009-09, Vol.4 (9), p.e7107-e7107

2009

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Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

Acta neuropathologica, 2011-04, Vol.121 (4), p.519-527

2011

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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Brain (London, England : 1878), 2010-06, Vol.133 (6), p.1798-1809

2010

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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

Neuropathology, 2009-12, Vol.29 (6), p.672-683

2009

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Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

Lancet neurology, 2018-05, Vol.17 (5), p.423-433

2018

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Combination of neurofilament heavy chain and complement C3 as CSF biomarkers for ALS

Journal of neurochemistry, 2011-05, Vol.117 (3), p.528-537

2011

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A proposed staging system for amyotrophic lateral sclerosis

Brain (London, England : 1878), 2012-03, Vol.135 (Pt 3), p.847-852

2012

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A clinical tool for predicting survival in ALS

Journal of neurology, neurosurgery and psychiatry, 2016-12, Vol.87 (12), p.1361-1367

2016

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Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

Journal of neurology, neurosurgery and psychiatry, 2019-03, Vol.90 (3), p.268-271

2019

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The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci

PloS one, 2009-12, Vol.4 (12), p.e8175-e8175

2009

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Analysis of alternative splicing associated with aging and neurodegeneration in the human brain

Genome research, 2011-10, Vol.21 (10), p.1572-1582

2011

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Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2014-12, Vol.15 (7-8), p.557-562

2014

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

Brain (London, England : 1878), 2010-06, Vol.133 (6), p.1763-1771

2010

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Is language impairment more common than executive dysfunction in amyotrophic lateral sclerosis?

Journal of neurology, neurosurgery and psychiatry, 2013-05, Vol.84 (5), p.494-498

2013

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The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

Alzheimer's & dementia, 2015-12, Vol.11 (12), p.1407-1416

2015

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Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

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

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

C9orf72 intermediate expansions of 24-30 repeats are associated with ALS

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations

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

The evaluation of pain in amyotrophic lateral sclerosis: A case controlled observational study

Latent cluster analysis of ALS phenotypes identifies prognostically differing groups

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

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

Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

Combination of neurofilament heavy chain and complement C3 as CSF biomarkers for ALS

A proposed staging system for amyotrophic lateral sclerosis

A clinical tool for predicting survival in ALS

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci

Analysis of alternative splicing associated with aging and neurodegeneration in the human brain

Safety, tolerability, and pharmacokinetics of antisense oligonucleotide BIIB078 in adults with C9orf72-associated amyotrophic lateral sclerosis: a phase 1, randomised, double blinded, placebo-controlled, multiple ascending dose study

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

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

Is language impairment more common than executive dysfunction in amyotrophic lateral sclerosis?

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

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