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Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

Human molecular genetics, 2015-03, Vol.24 (5), p.1363-1373

2015

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Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

American journal of human genetics, 2012-08, Vol.91 (2), p.313-319

2012

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Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

Acta neuropathologica, 2014-10, Vol.128 (4), p.505-524

2014

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Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

Acta neuropathologica, 2013-12, Vol.126 (6), p.895-905

2013

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ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD

Acta neuropathologica, 2019-07, Vol.138 (1), p.49-65

2019

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Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation

Nature communications, 2023-09, Vol.14 (1), p.5714-5714, Article 5714

2023

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Mutations in FUS cause FALS and SALS in French and French Canadian populations

Neurology, 2009-10, Vol.73 (15), p.1176

2009

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Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia

European journal of human genetics : EJHG, 2013-02, Vol.21 (2), p.237-239

2013

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Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis

Neurobiology of aging, 2011-03, Vol.32 (3), p.555.e13-555.e14

2011

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Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

Nature neuroscience, 2015-08, Vol.18 (8), p.1175-1182

2015

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ALS and FTD: an epigenetic perspective

Acta Neuropathologica, 2016-10, Vol.132 (4), p.487-502

2016

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Endoplasmic reticulum lipid rafts and upper motor neuron degeneration

Annals of neurology, 2012-10, Vol.72 (4), p.479-480

2012

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Familial ALS: less common than we think?

Journal of neurology, neurosurgery and psychiatry, 2012-12, Vol.83 (12), p.1133-1133

2012

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Mechanisms of toxicity in C9FTLD/ALS

Acta neuropathologica, 2014-03, Vol.127 (3), p.359-376

2014

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Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

Neurology, 2012-05, Vol.78 (19), p.1519

2012

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RNA-mediated toxicity in neurodegenerative disease

Molecular and cellular neuroscience, 2013-09, Vol.56, p.406-419

2013

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A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

Brain (London, England : 1878), 2011-02, Vol.134 (Pt 2), p.602-607

2011

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Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis

Journal of human genetics, 2011-03, Vol.56 (3), p.247-249

2011

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Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients

Brain research, 2014-10, Vol.1584, p.15-21

2014

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Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation

Orphanet journal of rare diseases, 2011-02, Vol.6 (1), p.4-4, Article 4

2011

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Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis

Neurobiology of aging, 2012-08, Vol.33 (8), p.1845.e7-1845.e9

2012

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Single-cell dissection of the human motor and prefrontal cortices in ALS and FTLD

Cell, 2024-04, Vol.187 (8), p.1971-1989.e16

2024

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SOD1 Mutations: More to Learn

Canadian journal of neurological sciences, 2012-03, Vol.39 (2), p.132-133

2012

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Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

Neuron (Cambridge, Mass.), 2014-10, Vol.84 (1), p.239-239

2014

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Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD

Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation

Mutations in FUS cause FALS and SALS in French and French Canadian populations

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

ALS and FTD: an epigenetic perspective

Endoplasmic reticulum lipid rafts and upper motor neuron degeneration

Familial ALS: less common than we think?

Mechanisms of toxicity in C9FTLD/ALS

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

RNA-mediated toxicity in neurodegenerative disease

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis

Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients

Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis

Single-cell dissection of the human motor and prefrontal cortices in ALS and FTLD

SOD1 Mutations: More to Learn

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

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