Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update (Q81430169)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json

frontotemporal lobar degeneration

8 January 2020

main subject

1 reference

I Gijselinck

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

C Van Broeckhoven

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

M Cruts

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

publication date

1 December 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

page(s)

1373-1386

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json

Progranulin in frontotemporal lobar degeneration and neuroinflammation

8 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Acrosome biogenesis begins during meiosis: evidence from the synthesis and distribution of an acrosomal glycoprotein, acrogranin, during guinea pig spermatogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Unique inflammatory RNA profiles of microglia in Creutzfeldt-Jakob disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

mRNA quality control: an ancient machinery recognizes and degrades mRNAs with nonsense codons.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

A novel deletion in progranulin gene is associated with FTDP-17 and CBS.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Structure and chromosomal location of the human granulin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Chromosome 17 and hereditary dementia: linkage studies in three non-Alzheimer families and kindreds with late-onset FAD.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Progranulin mutations in Dutch familial frontotemporal lobar degeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Prediction of human mRNA donor and acceptor sites from the DNA sequence.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Heterogeneity within a large kindred with frontotemporal dementia: A novel progranulin mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

MatInspector and beyond: promoter analysis based on transcription factor binding sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Involvement of granulin in estrogen-induced neurogenesis in the adult rat hippocampus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

A large Calabrian kindred segregating frontotemporal dementia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Cellular localization of gene expression for progranulin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Clinicopathologic correlation in PGRN mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

The spectrum of mutations for CADASIL diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Frontotemporal dementia: clinicopathological correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Progranulin locus deletion in frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Progranulin is a mediator of the wound response

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Concurrence of TDP-43, tau and alpha-synuclein pathology in brains of Alzheimer's disease and dementia with Lewy bodies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

The hairpin stack fold, a novel protein architecture for a new family of protein growth factors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Characteristics of frontotemporal dementia patients with a Progranulin mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Alteration of behavioural phenotype in mice by targeted disruption of the progranulin gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Degradation of Id2 by the anaphase-promoting complex couples cell cycle exit and axonal growth.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Progranulin null mutations in both sporadic and familial frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Late-onset frontotemporal dementia associated with a novel PGRN mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Are amyotrophic lateral sclerosis patients cognitively normal?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

The neuropathology and clinical phenotype of FTD with progranulin mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Differential expression of 14 genes in amyotrophic lateral sclerosis spinal cord detected using gridded cDNA arrays

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Predicting deleterious amino acid substitutions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Tau is a candidate gene for chromosome 17 frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

The role of tau (MAPT) in frontotemporal dementia and related tauopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

The prevalence of frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Prevalence and patterns of cognitive impairment in sporadic ALS.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Clinicopathologic features of frontotemporal dementia with progranulin sequence variation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Corticobasal syndrome associated with the A9D Progranulin mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Familial aggregation in frontotemporal dementia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Identification of a sex steroid-inducible gene in the neonatal rat hypothalamus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Induction of granulin precursor gene expression by estrogen treatment in neonatal rat hypothalamus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Granulin precursor gene: a sex steroid-inducible gene involved in sexual differentiation of the rat brain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Binary specification of nonsense codons by splicing and cytoplasmic translation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Functional characterization of novel presenilin-2 variants identified in human breast cancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Apolipoprotein E4 allele in a population–based study of early–onset Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Loss of presenilin 1 is associated with enhanced beta-catenin signaling and skin tumorigenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

The granulin/epithelin precursor abrogates the requirement for the insulin-like growth factor 1 receptor for growth in vitro.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.20785

7 January 2021

Identifiers

DOI

10.1002/HUMU.20785

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18543312%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference