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Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

Neuron (Cambridge, Mass.), 2016-10, Vol.92 (2), p.383-391

2016

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Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

Neuron (Cambridge, Mass.), 2013-02, Vol.77 (4), p.639-646

2013

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Amyotrophic Lateral Sclerosis: An Update for 2018

Mayo Clinic proceedings, 2018-11, Vol.93 (11), p.1617-1628

2018

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The role of tau in neurodegeneration

Molecular neurodegeneration, 2009-03, Vol.4 (1), p.13-13

2009

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

Neuron (Cambridge, Mass.), 2014-09, Vol.83 (5), p.1043-1050

2014

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Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

Neuron (Cambridge, Mass.), 2016-05, Vol.90 (3), p.535-550

2016

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Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS

Neuron (Cambridge, Mass.), 2015-09, Vol.87 (6), p.1207-1214

2015

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Immunological drivers of amyotrophic lateral sclerosis

Science translational medicine, 2023-11, Vol.15 (721), p.eadj9332

2023

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Disease Mechanisms of C9ORF72 Repeat Expansions

Cold Spring Harbor perspectives in medicine, 2018-04, Vol.8 (4), p.a024224

2018

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C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

Neuron (Cambridge, Mass.), 2015-12, Vol.88 (5), p.892-901

2015

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Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

Nature neuroscience, 2020-05, Vol.23 (5), p.615-624

2020

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Acetylation of the KXGS motifs in tau is a critical determinant in modulation of tau aggregation and clearance

Human molecular genetics, 2014-01, Vol.23 (1), p.104-116

2014

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Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

The Journal of clinical investigation, 2020-11, Vol.130 (11), p.6080-6092

2020

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Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

Acta neuropathologica, 2013-09, Vol.126 (3), p.385-399

2013

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Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

Nature medicine, 2018-08, Vol.24 (8), p.1136-1142

2018

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Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD

Nature communications, 2019-11, Vol.10 (1), p.5466-14, Article 5466

2019

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Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

Neuron (Cambridge, Mass.), 2015-12, Vol.88 (5), p.902-909

2015

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Cross-sectional and longitudinal measures of chitinase proteins in amyotrophic lateral sclerosis and expression of CHI3L1 in activated astrocytes

Journal of neurology, neurosurgery and psychiatry, 2020-04, Vol.91 (4), p.350-358

2020

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Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

Acta neuropathologica, 2013-12, Vol.126 (6), p.829-844

2013

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Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

Acta neuropathologica, 2015-12, Vol.130 (6), p.845-861

2015

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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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Mechanisms of toxicity in C9FTLD/ALS

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

2014

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Biomarkers for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated With Hexanucleotide Expansion Mutations in C9orf72

Frontiers in neurology, 2018-12, Vol.9, p.1063-1063

2018

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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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Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

Amyotrophic Lateral Sclerosis: An Update for 2018

The role of tau in neurodegeneration

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

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS

Immunological drivers of amyotrophic lateral sclerosis

Disease Mechanisms of C9ORF72 Repeat Expansions

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

Acetylation of the KXGS motifs in tau is a critical determinant in modulation of tau aggregation and clearance

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

Cross-sectional and longitudinal measures of chitinase proteins in amyotrophic lateral sclerosis and expression of CHI3L1 in activated astrocytes

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

Mechanisms of toxicity in C9FTLD/ALS

Biomarkers for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated With Hexanucleotide Expansion Mutations in C9orf72

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

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