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Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update
scientific article published on 01 December 2008
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1 reference
stated in
Europe PubMed Central
PubMed ID
18543312
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
title
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
18543312
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
main subject
frontotemporal lobar degeneration
1 reference
based on heuristic
inferred from title
author name string
I Gijselinck
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
18543312
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
C Van Broeckhoven
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
18543312
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
M Cruts
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
18543312
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json
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8 January 2020
publication date
1 December 2008
1 reference
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Europe PubMed Central
PubMed ID
18543312
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed ID
18543312
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
volume
29
1 reference
stated in
Europe PubMed Central
PubMed ID
18543312
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
page(s)
1373-1386
1 reference
stated in
Europe PubMed Central
PubMed ID
18543312
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
issue
12
1 reference
stated in
Europe PubMed Central
PubMed ID
18543312
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
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The spectrum of mutations for CADASIL diagnosis
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Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations
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Progranulin locus deletion in frontotemporal dementia
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Progranulin is a mediator of the wound response
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Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22
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The hairpin stack fold, a novel protein architecture for a new family of protein growth factors
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Characteristics of frontotemporal dementia patients with a Progranulin mutation
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Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17
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Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations
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Alteration of behavioural phenotype in mice by targeted disruption of the progranulin gene.
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Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions
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7 January 2021
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Degradation of Id2 by the anaphase-promoting complex couples cell cycle exit and axonal growth.
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Progranulin null mutations in both sporadic and familial frontotemporal dementia
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Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.
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A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology.
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Late-onset frontotemporal dementia associated with a novel PGRN mutation.
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Are amyotrophic lateral sclerosis patients cognitively normal?
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Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.
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The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene.
1 reference
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A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17
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The neuropathology and clinical phenotype of FTD with progranulin mutations
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Differential expression of 14 genes in amyotrophic lateral sclerosis spinal cord detected using gridded cDNA arrays
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Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome.
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Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease
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Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families.
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7 January 2021
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A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
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HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin
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https://api.crossref.org/works/10.1002%2FHUMU.20785
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based on heuristic
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Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia
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https://api.crossref.org/works/10.1002%2FHUMU.20785
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7 January 2021
based on heuristic
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Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases.
1 reference
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https://api.crossref.org/works/10.1002%2FHUMU.20785
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7 January 2021
based on heuristic
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Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria
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7 January 2021
based on heuristic
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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
1 reference
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7 January 2021
based on heuristic
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Predicting deleterious amino acid substitutions
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in progranulin explain atypical phenotypes with variants in MAPT.
1 reference
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https://api.crossref.org/works/10.1002%2FHUMU.20785
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7 January 2021
based on heuristic
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Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations
1 reference
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7 January 2021
based on heuristic
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Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family.
1 reference
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7 January 2021
based on heuristic
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Tau is a candidate gene for chromosome 17 frontotemporal dementia
1 reference
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https://api.crossref.org/works/10.1002%2FHUMU.20785
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7 January 2021
based on heuristic
inferred from DOI database lookup
Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval.
1 reference
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https://api.crossref.org/works/10.1002%2FHUMU.20785
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7 January 2021
based on heuristic
inferred from DOI database lookup
The role of tau (MAPT) in frontotemporal dementia and related tauopathies
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7 January 2021
based on heuristic
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Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.
1 reference
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https://api.crossref.org/works/10.1002%2FHUMU.20785
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7 January 2021
based on heuristic
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The prevalence of frontotemporal dementia
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7 January 2021
based on heuristic
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Improved splice site detection in Genie
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https://api.crossref.org/works/10.1002%2FHUMU.20785
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7 January 2021
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Prevalence and patterns of cognitive impairment in sporadic ALS.
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https://api.crossref.org/works/10.1002%2FHUMU.20785
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based on heuristic
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Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22.
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20785
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7 January 2021
based on heuristic
inferred from DOI database lookup
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.
1 reference
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https://api.crossref.org/works/10.1002%2FHUMU.20785
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7 January 2021
based on heuristic
inferred from DOI database lookup
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
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7 January 2021
based on heuristic
inferred from DOI database lookup
Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.
1 reference
stated in
Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.20785
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7 January 2021
based on heuristic
inferred from DOI database lookup
Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia
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https://api.crossref.org/works/10.1002%2FHUMU.20785
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7 January 2021
based on heuristic
inferred from DOI database lookup
Clinicopathologic features of frontotemporal dementia with progranulin sequence variation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
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7 January 2021
based on heuristic
inferred from DOI database lookup
Corticobasal syndrome associated with the A9D Progranulin mutation.
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https://api.crossref.org/works/10.1002%2FHUMU.20785
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7 January 2021
based on heuristic
inferred from DOI database lookup
Familial aggregation in frontotemporal dementia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a sex steroid-inducible gene in the neonatal rat hypothalamus.
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stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Induction of granulin precursor gene expression by estrogen treatment in neonatal rat hypothalamus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Granulin precursor gene: a sex steroid-inducible gene involved in sexual differentiation of the rat brain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Binary specification of nonsense codons by splicing and cytoplasmic translation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional characterization of novel presenilin-2 variants identified in human breast cancers
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Apolipoprotein E4 allele in a population–based study of early–onset Alzheimer's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Loss of presenilin 1 is associated with enhanced beta-catenin signaling and skin tumorigenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The granulin/epithelin precursor abrogates the requirement for the insulin-like growth factor 1 receptor for growth in vitro.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20785
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.20785
1 reference
stated in
Europe PubMed Central
PubMed ID
18543312
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
PubMed ID
18543312
1 reference
stated in
Europe PubMed Central
PubMed ID
18543312
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 January 2020
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