Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration (Q37235164)

19 August 2017

Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration (English)

1 reference

19 August 2017

Caroline Graff

0 references

Huei-Hsin Chiang

1 reference

19 August 2017

Charlotte Forsell

1 reference

19 August 2017

Lena Lilius

1 reference

19 August 2017

Linn Öijerstedt

1 reference

19 August 2017

Steinunn Thordardottir

1 reference

19 August 2017

Krishnan Shanmugarajan

1 reference

19 August 2017

Marie Westerlund

1 reference

19 August 2017

Inger Nennesmo

1 reference

19 August 2017

Håkan Thonberg

1 reference

19 August 2017

6 March 2013

1 reference

European Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

1 reference

19 August 2017

1 reference

19 August 2017

1260-1265

1 reference

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

A harmonized classification system for FTLD-TDP pathology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

rs5848 polymorphism and serum progranulin level

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

The heritability and genetics of frontotemporal lobar degeneration.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Apolipoprotein E epsilon4 allele has no effect on age at onset or duration of disease in cases of frontotemporal dementia with pick- or microvacuolar-type histology.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

The apolipoprotein E epsilon4 allele frequency is normal in fronto-temporal dementia, but correlates with age at onset of disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798842

The role of hypothermia in the management of severe brain injury: a meta-analysis

3 September 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.37

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.37

The effects of APOE and tau gene variability on risk of frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.37

Allele ε4 of Apolipoprotein E Shows a Dose Effect on Age at Onset of Pick Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.37

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.37

Progranulin genetic variability contributes to amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.37

Progranulin null mutations in both sporadic and familial frontotemporal dementia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23463024

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Progranulin locus deletion in frontotemporal dementia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23463024

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.37

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

23463024

1 reference