(Q40737530)

23 September 2017

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

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amyotrophic lateral sclerosis

23 September 2017

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9

Ekaterina Rogaeva

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23 September 2017

Shangxi Xiao

1

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23 September 2017

Laura MacNair

2

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23 September 2017

Philip McGoldrick

3

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23 September 2017

Paul M McKeever

4

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23 September 2017

Jesse R McLean

5

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23 September 2017

Ming Zhang

6

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23 September 2017

Julia Keith

7

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23 September 2017

Lorne Zinman

8

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23 September 2017

Janice Robertson

10

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23 September 2017

14 July 2015

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23 September 2017

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23 September 2017

78

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23 September 2017

4

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23 September 2017

568-583

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

23 September 2017

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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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Investigation of c9orf72 in 4 neurodegenerative disorders

21 January 2018

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Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

21 January 2018

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The neuropathology associated with repeat expansions in the C9ORF72 gene

21 January 2018

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Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not.

21 January 2018

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Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

21 January 2018

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Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

21 January 2018

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Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

21 January 2018

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Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

21 January 2018

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Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

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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Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

21 January 2018

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Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

21 January 2018

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The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

21 January 2018

1 reference

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

21 January 2018

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Repeat expansion in C9ORF72 in Alzheimer's disease

21 January 2018

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

21 January 2018

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Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion

21 January 2018

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Mechanisms of toxicity in C9FTLD/ALS.

21 January 2018

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Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia.

21 January 2018

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

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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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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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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Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

21 January 2018

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

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

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

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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El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

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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C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

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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Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

21 January 2018

1 reference

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

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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Dystrophic neurites express C9orf72 in Alzheimer's disease brains.

21 January 2018

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Conjoint pathologic cascades mediated by ALS/FTLD-U linked RNA-binding proteins TDP-43 and FUS

21 January 2018

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Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

21 January 2018

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Biochemical and structural analysis of nuclear protein import.

21 January 2018

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Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.24469

1 reference

23 September 2017

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