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Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations

Neuron (Cambridge, Mass.), 2014-02, Vol.81 (3), p.536-543

2014

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

Nature neuroscience, 2011-04, Vol.14 (4), p.452-458

2011

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Mutant C9orf72 human iPSC‐derived astrocytes cause non‐cell autonomous motor neuron pathophysiology

Glia, 2020-05, Vol.68 (5), p.1046-1064

2020

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The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

Brain (London, England : 1878), 2016-05, Vol.139 (Pt 5), p.1417-1432

2016

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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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Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

Acta neuropathologica, 2013-02, Vol.125 (2), p.273-288

2013

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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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Estimating clinical stage of amyotrophic lateral sclerosis from the ALS Functional Rating Scale

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2014-06, Vol.15 (3-4), p.279-284

2014

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Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

Neuron (Cambridge, Mass.), 2017-04, Vol.94 (2), p.322-336.e5

2017

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The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases

Neurobiology of disease, 2023-05, Vol.180, p.106082-106082, Article 106082

2023

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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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Tar DNA-binding protein-43 (TDP-43) regulates axon growth in vitro and in vivo

Neurobiology of disease, 2014-05, Vol.65 (100), p.25-34

2014

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TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets

Neurotherapeutics, 2015-04, Vol.12 (2), p.352-363

2015

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Heterogeneous Nuclear Ribonucleoprotein E2 (hnRNP E2) Is a Component of TDP-43 Aggregates Specifically in the A and C Pathological Subtypes of Frontotemporal Lobar Degeneration

Frontiers in neuroscience, 2019-06, Vol.13, p.551-551

2019

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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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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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RNA Misprocessing in C9orf72 -Linked Neurodegeneration

Frontiers in cellular neuroscience, 2017-07, Vol.11, p.195-195

2017

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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

Neuropathology, 2012-10, Vol.32 (5), p.505-514

2012

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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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Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

Neuron (Cambridge, Mass.), 2017-05, Vol.94 (4), p.931-931

2017

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Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations

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

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

Mutant C9orf72 human iPSC‐derived astrocytes cause non‐cell autonomous motor neuron pathophysiology

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

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

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

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

Estimating clinical stage of amyotrophic lateral sclerosis from the ALS Functional Rating Scale

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases

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

Tar DNA-binding protein-43 (TDP-43) regulates axon growth in vitro and in vivo

TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets

Heterogeneous Nuclear Ribonucleoprotein E2 (hnRNP E2) Is a Component of TDP-43 Aggregates Specifically in the A and C Pathological Subtypes of Frontotemporal Lobar Degeneration

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

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

RNA Misprocessing in C9orf72 -Linked Neurodegeneration

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

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

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

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