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

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7 March 2020

1

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7 March 2020

author name string

Simon Mead

series ordinal

2

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7 March 2020

publication date

11 February 2014

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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

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7 March 2020

volume

127

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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

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7 March 2020

page(s)

319-332

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

7 March 2020

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Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

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

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21 January 2018

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21 January 2018

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Repeat expansion in C9ORF72 in Alzheimer's disease

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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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

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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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

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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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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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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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