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Decoding ALS: from genes to mechanism

Nature (London), 2016-11, Vol.539 (7628), p.197-206

2016

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Molecular biology of amyotrophic lateral sclerosis: insights from genetics

Nature reviews. Neuroscience, 2006-09, Vol.7 (9), p.710-723

2006

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Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide

Nature medicine, 2022-01, Vol.28 (1), p.117-124

2022

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Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

Nature neuroscience, 2010-11, Vol.13 (11), p.1396-1403

2010

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EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

Nature medicine, 2012-09, Vol.18 (9), p.1418-1422

2012

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TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD

Nature neuroscience, 2018-04, Vol.21 (4), p.552-563

2018

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Variant-selective stereopure oligonucleotides protect against pathologies associated with C9orf72-repeat expansion in preclinical models

Nature communications, 2021-02, Vol.12 (1), p.847-15, Article 847

2021

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Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of amyotrophic lateral sclerosis

Nature communications, 2019-08, Vol.10 (1), p.3827-15, Article 3827

2019

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CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro

Nature communications, 2022-10, Vol.13 (1), p.6286-17, Article 6286

2022

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

Nature genetics, 2006-04, Vol.38 (4), p.411-413

2006

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Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD

Nature communications, 2022-05, Vol.13 (1), p.2799-2799, Article 2799

2022

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AAV gene therapy for Tay-Sachs disease

Nature medicine, 2022-02, Vol.28 (2), p.251-259

2022

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Artificial microRNA suppresses C9ORF72 variants and decreases toxic dipeptide repeat proteins in vivo

Gene therapy, 2024-03, Vol.31 (3-4), p.105-118

2024

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Cytotoxicity of botulinum neurotoxins reveals a direct role of syntaxin 1 and SNAP-25 in neuron survival

Nature communications, 2013, Vol.4 (1), p.1472-1472, Article 1472

2013

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Mutant dynactin in motor neuron disease

Nature genetics, 2003-04, Vol.33 (4), p.455-456

2003

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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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Possible tropical lakes on Titan from observations of dark terrain

Nature (London), 2012-06, Vol.486 (7402), p.237-239

2012

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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Nature genetics, 2001-10, Vol.29 (2), p.166-173

2001

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SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter

Nature neuroscience, 1999-05, Vol.2 (5), p.427-433

1999

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Publisher Correction: TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD

Nature neuroscience, 2018-08, Vol.21 (8), p.1138-1138

2018

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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Nature genetics, 1998-09, Vol.20 (1), p.31-36

1998

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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Nature genetics, 2016-09, Vol.48 (9), p.1037-1042

2016

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SPTLC1 is mutated in hereditary sensory neuropathy, type 1

Nature genetics, 2001-03, Vol.27 (3), p.261-262

2001

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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Nature communications, 2016-04, Vol.7 (1), p.11253-11253, Article 11253

2016

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Decoding ALS: from genes to mechanism

Molecular biology of amyotrophic lateral sclerosis: insights from genetics

Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide

Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD

Variant-selective stereopure oligonucleotides protect against pathologies associated with C9orf72-repeat expansion in preclinical models

Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of amyotrophic lateral sclerosis

CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro

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

Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD

AAV gene therapy for Tay-Sachs disease

Artificial microRNA suppresses C9ORF72 variants and decreases toxic dipeptide repeat proteins in vivo

Cytotoxicity of botulinum neurotoxins reveals a direct role of syntaxin 1 and SNAP-25 in neuron survival

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Mutant dynactin in motor neuron disease

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

Possible tropical lakes on Titan from observations of dark terrain

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter

Publisher Correction: TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

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