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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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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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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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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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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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The role of tau in neurodegeneration

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

2009

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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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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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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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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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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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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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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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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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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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The dual functions of the extreme N-terminus of TDP-43 in regulating its biological activity and inclusion formation

Human molecular genetics, 2013-08, Vol.22 (15), p.3112-3122

2013

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RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

Nature neuroscience, 2019-09, Vol.22 (9), p.1383-1388

2019

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Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice

The Journal of neuroscience, 2010-08, Vol.30 (32), p.10851-10859

2010

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Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy

Molecular neurodegeneration, 2019-02, Vol.14 (1), p.9-15, Article 9

2019

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Amyotrophic Lateral Sclerosis: An Update for 2018

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

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

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

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

The role of tau in neurodegeneration

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

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

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

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

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

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

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

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

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

The dual functions of the extreme N-terminus of TDP-43 in regulating its biological activity and inclusion formation

Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice

Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy

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