Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia (Q37260852)

19 August 2017

1 reference

title

Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia (English)

1 reference

19 August 2017

0 references

frontotemporal dementia

1 reference

2

Peter Heutink

1 reference

19 August 2017

John C van Swieten

1

1 reference

19 August 2017

2 September 2008

1 reference

19 August 2017

1 reference

19 August 2017

7

1 reference

19 August 2017

10

1 reference

19 August 2017

965-974

1 reference

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

19 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Complex compulsive behaviour in the temporal variant of frontotemporal dementia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Pick's disease. Histological and clinical correlations.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

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/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

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/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

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/10.1016%2FS1474-4422%2808%2970194-7

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/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Cellular localization of gene expression for progranulin

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Conversion of proepithelin to epithelins: roles of SLPI and elastase in host defense and wound repair

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Progranulin (acrogranin/PC cell-derived growth factor/granulin-epithelin precursor) is expressed in the placenta, epidermis, microvasculature, and brain during murine development

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

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/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Progranulin in frontotemporal lobar degeneration and neuroinflammation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Enrichment of C-terminal fragments in TAR DNA-binding protein-43 cytoplasmic inclusions in brain but not in spinal cord of frontotemporal lobar degeneration and amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

TDP-43-positive white matter pathology in frontotemporal lobar degeneration with ubiquitin-positive inclusions.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

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/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

A Reassessment of the Neuropathology of Frontotemporal Dementia Linked to Chromosome 3

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

TDP-43 is deposited in the Guam parkinsonism-dementia complex brains.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

TDP-43 A315T mutation in familial motor neuron disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Ubiquitin immunohistochemistry suggests classic motor neuron disease, motor neuron disease with dementia, and frontotemporal dementia of the motor neuron disease type represent a clinicopathologic spectrum.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

TDP-43-negative FTLD-U is a significant new clinico-pathological subtype of FTLD

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Progranulin null mutations in both sporadic and familial frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

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/10.1016%2FS1474-4422%2808%2970194-7

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/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Gene expression study on peripheral blood identifies progranulin mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Progranulin locus deletion in frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

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/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Progranulin mutations in Dutch familial frontotemporal lobar degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

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/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

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/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Clinicopathologic correlation in PGRN mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

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/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Progranulin genetic variability contributes to amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Distinct genetic forms of frontotemporal dementia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Phenotypic variation in hereditary frontotemporal dementia with tau mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

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/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Progranulin gene mutation with an unusual clinical and neuropathologic presentation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Corticobasal syndrome associated with the A9D Progranulin mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Clinicopathologic features of frontotemporal dementia with progranulin sequence variation.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Characteristics of frontotemporal dementia patients with a Progranulin mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

In vivo and postmortem clinicoanatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Re-examination of a family with Pick's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

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/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Tau is a candidate gene for chromosome 17 frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Hereditary frontotemporal dementia caused by Tau gene mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Epidemiology and genetics of frontotemporal dementia/Pick's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Chromosome 3 linked frontotemporal dementia (FTD-3).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

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/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Comparison of family histories in FTLD subtypes and related tauopathies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Frontotemporal lobar degeneration: demographic characteristics of 353 patients

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Clinical and pathological characterization of progressive aphasia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Cognition and anatomy in three variants of primary progressive aphasia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

Dementia lacking distinctive histology (DLDH) revisited

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970194-7

7 January 2021

10.1016/S1474-4422(08)70194-7

Identifiers

DOI

1 reference

19 August 2017

1 reference

PubMed ID

18771956