C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients (Q34599648)

3 August 2017

title

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients (English)

1 reference

3 August 2017

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frontotemporal dementia

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William S Brooks

15

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Cristina Razquin

object named as

Cristina Razquin

8

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Pau Pastor

object named as

Pau Pastor

17

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Peter R Schofield

object named as

Peter R Schofield

16

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author name string

Carol Dobson-Stone

1

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3 August 2017

Marianne Hallupp

2

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3 August 2017

Clement T Loy

3

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3 August 2017

Elizabeth M Thompson

4

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3 August 2017

Eric Haan

5

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3 August 2017

Carolyn M Sue

6

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3 August 2017

Peter K Panegyres

7

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3 August 2017

Manuel Seijo-Martínez

9

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3 August 2017

Ramon Rene

10

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3 August 2017

Jordi Gascon

11

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3 August 2017

Jaume Campdelacreu

12

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3 August 2017

Birgit Schmoll

13

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3 August 2017

Alexander E Volk

14

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3 August 2017

John B J Kwok

18

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3 August 2017

language of work or name

English

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publication date

20 February 2013

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3 August 2017

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3 August 2017

volume

8

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3 August 2017

issue

2

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3 August 2017

page(s)

e56899

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Creative Commons Attribution 4.0 International

3 August 2017

copyright license

start time

20 February 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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

1 reference

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C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3577667

Large C9orf72 repeat expansions are not a common cause of Parkinson's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3577667

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

7 July 2018

1 reference

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Evidence for an oligogenic basis of amyotrophic lateral sclerosis

7 July 2018

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3577667

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

7 July 2018

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

7 July 2018

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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Chromosome 9 ALS and FTD locus is probably derived from a single founder

7 July 2018

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A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

7 July 2018

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Neuropathological background of phenotypical variability in frontotemporal dementia

7 July 2018

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Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.

7 July 2018

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Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

7 July 2018

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7 July 2018

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Molecular pathways of frontotemporal lobar degeneration

7 July 2018

1 reference

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7 July 2018

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Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration

7 July 2018

1 reference

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Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

7 July 2018

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

7 July 2018

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inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0056899

1 reference

3 August 2017

0 references

1 reference

3 August 2017

1 reference