A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia (Q34658918)

3 August 2017

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

1 reference

3 August 2017

frontotemporal dementia

1 reference

Colin Mahoney

3

0 references

Jonathan D Rohrer

Jonathan D Rohrer

2

0 references

Jason D. Warren

Jason Warren

7

0 references

Martin Rossor

Martin Rossor

8

0 references

Tammaryn Lashley

1

Tammaryn Lashley

1 reference

3 August 2017

Elizabeth Gordon

4

1 reference

3 August 2017

Jon Beck

5

1 reference

3 August 2017

Simon Mead

6

1 reference

3 August 2017

Tamas Revesz

9

1 reference

3 August 2017

language of work or name

1 reference

1 June 2014

1 reference

Neuropathology and Applied Neurobiology

3 August 2017

12

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

3 August 2017

40

1 reference

3 August 2017

4

1 reference

3 August 2017

502-513

1 reference

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

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

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=4260146

Screening for C9ORF72 repeat expansion in FTLD.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 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=4260146

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau 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=4260146

The heritability and genetics of frontotemporal lobar degeneration.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

Distinct genetic forms of frontotemporal dementia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4260146

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FNAN.12100

Interactive algorithms for the segmentation and quantitation of 3-D MRI brain scans.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FNAN.12100

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FNAN.12100

Progranulin locus deletion in frontotemporal dementia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24286341

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/NAN.12100

1 reference

3 August 2017

1 reference

3 August 2017

1 reference