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Unraveling the impact of disrupted nucleocytoplasmic transport systems in C9orf72-associated ALS

Frontiers in cellular neuroscience, 2023-08, Vol.17, p.1247297-1247297

2023

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Loss of C9orf72 perturbs the Ran-GTPase gradient and nucleocytoplasmic transport, generating compositionally diverse Importin β-1 granules

Cell reports (Cambridge), 2023-03, Vol.42 (3), p.112134-112134, Article 112134

2023

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Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

Acta neuropathologica, 2013-02, Vol.125 (2), p.273-288

2013

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The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

Acta neuropathologica, 2015-05, Vol.129 (5), p.715-727

2015

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Corrigendum to: "Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member" [Stem Cell Res. 66 (2023) 1-5/102998]

Stem cell research, 2023-12, Vol.73, p.103245-103245, Article 103245

2023

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Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member

Stem cell research, 2023-02, Vol.66, p.102998-102998, Article 102998

2023

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Jump from Pre-mutation to Pathologic Expansion in C9orf72

American journal of human genetics, 2015-06, Vol.96 (6), p.962-970

2015

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A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity

Human molecular genetics, 2015-04, Vol.24 (7), p.1883-1897

2015

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Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

Brain (London, England : 1878), 2014-12, Vol.137 (Pt 12), p.3171-3185

2014

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A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects

PloS one, 2014-01, Vol.9 (1), p.e85962

2014

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Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue

PloS one, 2011-07, Vol.6 (7), p.e22489-e22489

2011

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Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis

Annals of neurology, 2015-10, Vol.78 (4), p.568-583

2015

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Rodent models of amyotrophic lateral sclerosis

Biochimica et biophysica acta, 2013-09, Vol.1832 (9), p.1421-1436

2013

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The FUS gene is dual-coding with both proteins contributing to FUS-mediated toxicity

EMBO reports, 2021-01, Vol.22 (1), p.e50640-n/a

2021

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DNA methylation age acceleration is associated with ALS age of onset and survival

Acta neuropathologica, 2020-05, Vol.139 (5), p.943-946

2020

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Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression

Neurology, 2018-01, Vol.90 (4), p.e323

2018

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A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity

Human molecular genetics, 2015-04, Vol.24 (7), p.1883-1897

2015

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Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis

Neurology. Genetics, 2020-02, Vol.6 (1), p.e394

2020

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Isoform‐specific antibodies reveal distinct subcellular localizations of C 9orf72 in amyotrophic lateral sclerosis

Annals of neurology, 2015-10, Vol.78 (4), p.568-583

2015

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A Nonsense Mutation in Mouse Tardbp Affects TDP43 Alternative Splicing Activity and Causes Limb-Clasping and Body Tone Defects: e85962

PloS one, 2014-01, Vol.9 (1)

2014

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Responsive Neurostimulation Targeting the Anterior, Centromedian and Pulvinar Thalamic Nuclei and the Detection of Electrographic Seizures in Pediatric and Young Adult Patients

Frontiers in human neuroscience, 2022-04, Vol.16, p.876204-876204

2022

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Legacy Polybrominated Diphenyl Ethers (PBDEs) Trends in Top Predator Fish of the Laurentian Great Lakes (GL) from 1979 to 2016: Will Concentrations Continue to Decrease?

Environmental science & technology, 2019-06, Vol.53 (12), p.6650-6659

2019

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His brain is on FIRES

Journal of neurology, 2024-09, Vol.271 (9), p.6382-6387

2024

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Unraveling the impact of disrupted nucleocytoplasmic transport systems in C9orf72-associated ALS

Loss of C9orf72 perturbs the Ran-GTPase gradient and nucleocytoplasmic transport, generating compositionally diverse Importin β-1 granules

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

Corrigendum to: "Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member" [Stem Cell Res. 66 (2023) 1-5/102998]

Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member

Jump from Pre-mutation to Pathologic Expansion in C9orf72

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects

Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue

Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis

Rodent models of amyotrophic lateral sclerosis

The FUS gene is dual-coding with both proteins contributing to FUS-mediated toxicity

Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue

DNA methylation age acceleration is associated with ALS age of onset and survival

Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity

Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis

Isoform‐specific antibodies reveal distinct subcellular localizations of C 9orf72 in amyotrophic lateral sclerosis

Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration

A Nonsense Mutation in Mouse Tardbp Affects TDP43 Alternative Splicing Activity and Causes Limb-Clasping and Body Tone Defects: e85962

Responsive Neurostimulation Targeting the Anterior, Centromedian and Pulvinar Thalamic Nuclei and the Detection of Electrographic Seizures in Pediatric and Young Adult Patients

Legacy Polybrominated Diphenyl Ethers (PBDEs) Trends in Top Predator Fish of the Laurentian Great Lakes (GL) from 1979 to 2016: Will Concentrations Continue to Decrease?

His brain is on FIRES

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