(Q38187051)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24515836%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24515836%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24515836%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

author name string

Simon Mead

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24515836%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

publication date

11 February 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24515836%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

published in

Acta Neuropathologica

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24515836%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

volume

127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24515836%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24515836%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

page(s)

319-332

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24515836%20AND%20SRC:MED&resulttype=core&format=json

No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden

7 March 2020

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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.

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

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Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study

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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Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome

21 January 2018

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C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.

21 January 2018

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C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

21 January 2018

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Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia.

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

21 January 2018

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Mechanisms of toxicity in C9FTLD/ALS.

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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C9orf72 hexanucleotide repeat expansions in clinical Alzheimer 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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Parkinson disease is not associated with C9ORF72 repeat expansions

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

21 January 2018

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

21 January 2018

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Lack of genetic association of the UCHL1 gene with Alzheimer's disease and Parkinson's disease with dementia

21 January 2018

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C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan.

21 January 2018

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

21 January 2018

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Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration

21 January 2018

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

21 January 2018

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

21 January 2018

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Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.

21 January 2018

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

21 January 2018

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Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians

21 January 2018

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Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.

21 January 2018

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

21 January 2018

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

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

21 January 2018

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C9orf72 repeat expansions are not detected in Chinese patients with familial ALS.

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1253-7

Repeat expansion in C9ORF72 in Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1253-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1253-7

Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability

21 January 2018

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A potential impact of chronic Helicobacter pylori infection on Alzheimer's disease pathobiology and course.

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1253-7

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

21 January 2018

1 reference

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

21 January 2018

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Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis.

21 January 2018

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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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00401-014-1253-7

Can ALS-associated C9orf72 repeat expansions be diagnosed on a blood DNA test alone?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1253-7

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

21 January 2018

1 reference

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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

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1253-7

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

21 January 2018

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Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease.

21 January 2018

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C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

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 clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

21 January 2018

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The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

21 January 2018

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

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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C9orf72 repeat expansions are restricted to the ALS-FTD spectrum

21 January 2018

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C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

21 January 2018

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

21 January 2018

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

21 January 2018

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Pathophysiological insights into ALS with C9ORF72 expansions.

21 January 2018

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Development and validation of pedigree classification criteria for frontotemporal lobar degeneration

21 January 2018

1 reference

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Investigation of c9orf72 in 4 neurodegenerative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1253-7

Neuroimaging features of C9ORF72 expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1253-7

Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1253-7

Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1253-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1253-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1253-7