C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis (Q38339081)

2 September 2017

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title

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis (English)

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amyotrophic lateral sclerosis

2 September 2017

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dementia

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frontotemporal dementia

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Selina Wray

6

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Pietro Fratta

Pietro Fratta

8

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Jonathan D Rohrer

Jonathan D Rohrer

1

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Jason D. Warren

Jason D Warren

14

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Martin Rossor

Martin N Rossor

13

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John Anthony Hardy

10

John Hardy

1 reference

2 September 2017

5

Tammaryn Lashley

1 reference

2 September 2017

11

Janice Holton

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2 September 2017

Adrian M Isaacs

2

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2 September 2017

Sarah Mizielinska

3

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2 September 2017

Simon Mead

4

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2 September 2017

Katie Sidle

7

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2 September 2017

Richard W Orrell

9

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2 September 2017

Tamas Revesz

12

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2 September 2017

29 January 2015

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2 September 2017

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2 September 2017

14

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2 September 2017

291-301

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2 September 2017

3

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

2 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Mechanisms of toxicity in C9FTLD/ALS.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9orf72; abnormal RNA expression is the key.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Finnish Disease Heritage I: characteristics, causes, background

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Finnish Disease Heritage II: population prehistory and genetic roots of Finns

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

The Finnish Disease Heritage III: the individual diseases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Frontotemporal dementia associated with the C9ORF72 mutation: a unique clinical profile

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohort

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive-compulsive disorder associated to GGGGCC expansion of the c9orf72 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9ORF72 hexanucleotide repeat expansion as a rare cause of bipolar disorder

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9ORF72 expansion in a family with bipolar disorder

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Neural substrates of episodic memory dysfunction in behavioural variant frontotemporal dementia with and without C9ORF72 expansions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Classification of primary progressive aphasia and its variants

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

A case of logopenic primary progressive aphasia with C9ORF72 expansion and cortical florbetapir binding.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Parkinsonian syndrome in familial frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: findings in an Italian cohort of patients with parkinsonian syndromes and relevance for genetic counselling

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9ORF72 in dementia with Lewy bodies.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Slowly progressive frontotemporal lobar degeneration caused by the C9ORF72 repeat expansion: a 20-year follow-up study

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Familial benign frontotemporal deterioration with C9ORF72 hexanucleotide expansion.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Basal ganglia involvement in amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Multiparametric MRI study of ALS stratified for the C9orf72 genotype

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

The GGGGCC repeat expansion in C9ORF72 in a case with discordant clinical and FDG-PET findings: PET trumps syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Pathophysiological insights into ALS with C9ORF72 expansions.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Impaired self-other differentiation in frontotemporal dementia due to the C9ORF72 expansion

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Altered body schema processing in frontotemporal dementia with C9ORF72 mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

A harmonized classification system for FTLD-TDP pathology

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Corticospinal tract degeneration associated with TDP-43 type C pathology and semantic dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

TMPyP4 porphyrin distorts RNA G-quadruplex structures of the disease-associated r(GGGGCC)n repeat of the C9orf72 gene and blocks interaction of RNA-binding proteins

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Presymptomatic studies in genetic frontotemporal dementia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

Treatment implications of C9ORF72.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2814%2970233-9

7 January 2021

10.1016/S1474-4422(14)70233-9

Identifiers

DOI

1 reference

2 September 2017

1 reference