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Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

Science (American Association for the Advancement of Science), 2009-02, Vol.323 (5918), p.1208-1211

2009

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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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The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

European journal of human genetics : EJHG, 2013-01, Vol.21 (1), p.102-108

2013

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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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Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content

Human molecular genetics, 2007-11, Vol.16 (22), p.2720-2728

2007

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Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

Neurobiology of aging, 2015-03, Vol.36 (3), p.1602.e17-1602.e27

2015

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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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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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A proposed staging system for amyotrophic lateral sclerosis

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

2012

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Neurofilament Heavy Chain Side Arm Phosphorylation Regulates Axonal Transport of Neurofilaments

The Journal of cell biology, 2003-05, Vol.161 (3), p.489-495

2003

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Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

Nature genetics, 2009-10, Vol.41 (10), p.1088-1093

2009

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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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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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ATXN2 Trinucleotide Repeat Length Correlates with Risk of ALS

Neurobiology of aging, 2017-03, Vol.51, p.178.e1-178.e9

2017

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Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria

Human molecular genetics, 2012-05, Vol.21 (9), p.1979-1988

2012

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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

Journal of medical genetics, 2014-06, Vol.51 (6), p.419-424

2014

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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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Executive dysfunction predicts social cognition impairment in amyotrophic lateral sclerosis

Journal of neurology, 2015-07, Vol.262 (7), p.1681-1690

2015

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

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

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

Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

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

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

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS

A proposed staging system for amyotrophic lateral sclerosis

Neurofilament Heavy Chain Side Arm Phosphorylation Regulates Axonal Transport of Neurofilaments

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

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

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

ATXN2 Trinucleotide Repeat Length Correlates with Risk of ALS

Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

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

Executive dysfunction predicts social cognition impairment in amyotrophic lateral sclerosis

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