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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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RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy

Brain (London, England : 1878), 2019-12, Vol.142 (12), p.3753-3770

2019

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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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TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Science (American Association for the Advancement of Science), 2008-03, Vol.319 (5870), p.1668-1672

2008

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Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

Proceedings of the National Academy of Sciences - PNAS, 2012-04, Vol.109 (15), p.5803-5808

2012

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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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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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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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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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Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant

Acta neuropathologica, 2013-02, Vol.125 (2), p.303-310

2013

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Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia

Brain (London, England : 1878), 2024-10, Vol.147 (10), p.3547-3561

2024

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Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration

Acta neuropathologica communications, 2015-06, Vol.3 (1), p.38, Article 38

2015

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Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia

Neurobiology of aging, 2019-01, Vol.73, p.229.e5-229.e9

2019

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Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons

Stem cell reports, 2024-02, Vol.19 (2), p.187-195

2024

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Cortical involvement in four cases of primary lateral sclerosis using [11C]-flumazenil PET

Journal of neurology, 2007-08, Vol.254 (8), p.1033-1036, Article 1033

2007

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

Brain (London, England : 1878), 2006-04, Vol.129 (4), p.868-876

2006

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Objectively Monitoring Amyotrophic Lateral Sclerosis Patient Symptoms During Clinical Trials With Sensors: Observational Study

JMIR mHealth and uHealth, 2019-12, Vol.7 (12), p.e13433

2019

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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

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy

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

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

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

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

Latent cluster analysis of ALS phenotypes identifies prognostically differing groups

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

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

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant

Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia

Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons

Cortical involvement in four cases of primary lateral sclerosis using [11C]-flumazenil PET

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

Objectively Monitoring Amyotrophic Lateral Sclerosis Patient Symptoms During Clinical Trials With Sensors: Observational Study

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

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