Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions (Q38789426)

6 September 2017

title

Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions (English)

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6 September 2017

2

Leonard Petrucelli

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6 September 2017

Tiffany W Todd

1

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6 September 2017

language of work or name

English

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publication date

26 March 2016

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Journal of Neurochemistry

6 September 2017

published in

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6 September 2017

volume

138 Suppl 1

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6 September 2017

page(s)

145-162

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

6 September 2017

cites work

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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

21 January 2018

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Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene

21 January 2018

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

21 January 2018

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

21 January 2018

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Rab proteins: the key regulators of intracellular vesicle transport

21 January 2018

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Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

21 January 2018

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Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

21 January 2018

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Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

21 January 2018

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Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

21 January 2018

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Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

21 January 2018

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C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

21 January 2018

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Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.

21 January 2018

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Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

21 January 2018

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Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.

21 January 2018

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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 January 2018

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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

21 January 2018

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Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability

21 January 2018

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RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

21 January 2018

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An amyloid-like cascade hypothesis for C9orf72 ALS/FTD

21 January 2018

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C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

21 January 2018

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C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

21 January 2018

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Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

21 January 2018

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GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

21 January 2018

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A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.

21 January 2018

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Axonal ion channel dysfunction in c9orf72 familial amyotrophic lateral sclerosis

21 January 2018

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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

21 January 2018

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Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

21 January 2018

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A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

21 January 2018

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Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.

21 January 2018

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Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

21 January 2018

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C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

21 January 2018

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Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

21 January 2018

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Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions

21 January 2018

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Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

21 January 2018

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RETRACTED: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.

21 January 2018

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Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.

21 January 2018

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Cell-free formation of RNA granules: low complexity sequence domains form dynamic fibers within hydrogels

21 January 2018

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Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

21 January 2018

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C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

21 January 2018

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Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia.

21 January 2018

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Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

21 January 2018

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Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

21 January 2018

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Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

21 January 2018

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The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

21 January 2018

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Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy

21 January 2018

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Stress granules as crucibles of ALS pathogenesis.

21 January 2018

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The role of the selective adaptor p62 and ubiquitin-like proteins in autophagy.

21 January 2018

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C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.

21 January 2018

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The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

21 January 2018

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Heterogeneous nuclear ribonucleoprotein A3, a novel RNA trafficking response element-binding protein

21 January 2018

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Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations

21 January 2018

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

21 January 2018

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Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions.

21 January 2018

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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

21 January 2018

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Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

21 January 2018

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C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

21 January 2018

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C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence

21 January 2018

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Directly Reprogrammed Human Neurons Retain Aging-Associated Transcriptomic Signatures and Reveal Age-Related Nucleocytoplasmic Defects.

21 January 2018

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C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.

21 January 2018

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C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

21 January 2018

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Phase separation by low complexity domains promotes stress granule assembly and drives pathological fibrillization

21 January 2018

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hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

21 January 2018

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The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

21 January 2018

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ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function

21 January 2018

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

21 January 2018

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Proteasome inhibitor MG132-induced apoptosis via ER stress-mediated apoptotic pathway and its potentiation by protein tyrosine kinase p56lck in human Jurkat T cells.

21 January 2018

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

21 January 2018

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Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability

21 January 2018

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Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.

21 January 2018

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The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures

21 January 2018

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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

21 January 2018

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G-quadruplexes and their regulatory roles in biology

21 January 2018

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Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

21 January 2018

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Nuclear accumulation of mRNAs underlies G4C2-repeat-induced translational repression in a cellular model of C9orf72 ALS.

21 January 2018

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Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier

21 January 2018

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Cell-autonomous and non-cell-autonomous toxicity in polyglutamine diseases

21 January 2018

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Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion

21 January 2018

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Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

21 January 2018

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Profiling of ubiquitination pathway genes in peripheral cells from patients with frontotemporal dementia due to C9ORF72 and GRN mutations

21 January 2018

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Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features

21 January 2018

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The selective vulnerability of nerve cells in Huntington's disease

21 January 2018

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Characterization of DNA G-quadruplex species forming from C9ORF72 G4C2-expanded repeats associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration

21 January 2018

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Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

21 January 2018

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Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

21 January 2018

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Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS.

21 January 2018

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Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity

21 January 2018

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Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans

21 January 2018

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Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor

21 January 2018

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

21 January 2018

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Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

21 January 2018

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Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons

21 January 2018

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Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

21 January 2018

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Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death

21 January 2018

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Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

21 January 2018

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Cytoplasmic protein aggregates interfere with nucleocytoplasmic transport of protein and RNA.

21 January 2018

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Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients

21 January 2018

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

21 January 2018

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Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

21 January 2018

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CAG repeat disorder models and human neuropathology: similarities and differences

21 January 2018

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Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS.

21 January 2018

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FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions

21 January 2018

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UNC119 is required for G protein trafficking in sensory neurons

21 January 2018

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Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

21 January 2018

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Ubiquilin 2: a component of the ubiquitin-proteasome system with an emerging role in neurodegeneration

21 January 2018

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

21 January 2018

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The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

21 January 2018

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RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

21 January 2018

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p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/JNC.13623

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6 September 2017

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