The genetics and neuropathology of frontotemporal lobar degeneration (Q24615201)

Christine Van Broeckhoven

11 December 2019

nerve tissue proteins

1 reference

19 December 2019

9

0 references

Sebastiaan Engelborghs

3

Sebastiaan Engelborghs

0 references

Patrick Santens

Patrick Santens

8

0 references

Paul Boon

5

Paul Boon

0 references

Peter Paul De Deyn

7

Peter-Paul De Deyn

0 references

Marc Cruts

10

Marc Cruts

0 references

Jean-Jacques Martin

4

Jean-Jacques Martin

0 references

Anne Sieben

1

Anne Sieben

0 references

Patrick Cras

6

Patrick Cras

0 references

Tim Van Langenhove

2

https://scigraph.springernature.com/pub.10.1007/s00401-012-1029-x

Tim Van Langenhove

0 references

language of work or name

English

0 references

publication date

September 2012

0 references

1 September 2012

5 references

25 April 2019

24 June 2019

12 September 2019

11 December 2019

19 December 2019

Acta Neuropathologica

5 references

25 April 2019

24 June 2019

12 September 2019

11 December 2019

19 December 2019

124

0 references

issue

3

0 references

page(s)

353-72

0 references

exact match

0 references

cites work

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

A harmonized classification system for FTLD-TDP pathology

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Classification of primary progressive aphasia and its variants

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Exome sequencing reveals VCP mutations as a cause of familial ALS

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

A new subtype of frontotemporal lobar degeneration with FUS pathology

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Progranulin in frontotemporal lobar degeneration and neuroinflammation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin-proteasome degradation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

The corticobasal syndrome-Alzheimer's disease conundrum

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

FUS pathology in basophilic inclusion body disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Argyrophilic grain disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Comparison of family histories in FTLD subtypes and related tauopathies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Locus-specific mutation databases for neurodegenerative brain diseases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Membrane orientation and subcellular localization of transmembrane protein 106B (TMEM106B), a major risk factor for frontotemporal lobar degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Screening for C9ORF72 repeat expansion in FTLD.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Survival in a German population with frontotemporal lobar degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Phenotypic signatures of genetic frontotemporal dementia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

FUS and TDP43 genetic variability in FTD and CBS

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Progranulin and TDP-43: mechanistic links and future directions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

The clinical diagnosis of early-onset dementias: diagnostic accuracy and clinicopathological relationships.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Motor neuron dysfunction in frontotemporal dementia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Neuropathological background of phenotypical variability in frontotemporal dementia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Novel types of frontotemporal lobar degeneration: beyond tau and TDP-43.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Frontotemporal dementia caused by CHMP2B mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Distinct pathological subtypes of FTLD-FUS.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Nuclear factor TDP-43 can affect selected microRNA levels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Role of progranulin as a biomarker for Alzheimer's disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Frontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

p97/VCP at the intersection of the autophagy and the ubiquitin proteasome system

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

GRN variability contributes to sporadic frontotemporal lobar degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

The heritability and genetics of frontotemporal lobar degeneration.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Progranulin is expressed within motor neurons and promotes neuronal cell survival

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Recent advances in understanding the molecular basis of Paget disease of bone

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Variation at GRN 3'-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Abeta amyloid and glucose metabolism in three variants of primary progressive aphasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Loss of progranulin function in frontotemporal lobar degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

TDP-43 proteinopathies: neurodegenerative protein misfolding diseases without amyloidosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Cognitive impairment in amyotrophic lateral sclerosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

TDP-43 proteinopathy in frontotemporal lobar degeneration and amyotrophic lateral sclerosis: protein misfolding diseases without amyloidosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Frontotemporal dementia progresses to death faster than Alzheimer disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

The pathological basis of semantic dementia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Frontotemporal lobar degeneration: demographic characteristics of 353 patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Survival in frontotemporal dementia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Are amyotrophic lateral sclerosis patients cognitively normal?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Sporadic four-repeat tauopathy with frontotemporal lobar degeneration, Parkinsonism, and motor neuron disease: a distinct clinicopathological and biochemical disease entity

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

The H2 MAPT haplotype is associated with familial frontotemporal dementia.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Frontotemporal dementia and Parkinsonism linked to chromosome 17: a new group of tauopathies.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Association of an extended haplotype in the tau gene with progressive supranuclear palsy.

30 May 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Association between tau H2 haplotype and age at onset in frontotemporal dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

New genes, new dilemmas: FTLD genetics and its implications for families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Chromosome 3 linked frontotemporal dementia (FTD-3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Unpicking frontotemporal lobar degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

The genetic and pathological classification of familial frontotemporal dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

21 January 2018

Frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Tau is a candidate gene for chromosome 17 frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Prevalence and patterns of cognitive impairment in sporadic ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Mutant valosin-containing protein causes a novel type of frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Genetic contribution of FUS to frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

MAPT S305I mutation: implications for argyrophilic grain disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Dysfluencies in pure akinesia with gait freezing: Two case reports

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Progranulin genetic variability contributes to amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

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

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Cerebrospinal fluid biomarkers in Progranulin mutations carriers.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422616

Progranulin null mutations in both sporadic and familial frontotemporal dementia

28 November 2018

1 reference

12 December 2020

Progressive nonfluent aphasia associated with a new mutation V363I in tau gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Progranulin locus deletion in frontotemporal dementia

1 reference

12 December 2020

Genetic analysis of MAPT haplotype diversity in frontotemporal dementia

1 reference

12 December 2020

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

1 reference

12 December 2020

Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy

1 reference

12 December 2020

Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion

1 reference

12 December 2020

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

1 reference

12 December 2020

tau Exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 5' and 3' splice sites

1 reference

12 December 2020

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

1 reference

12 December 2020

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

1 reference

12 December 2020

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1029-X

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1007/S00401-012-1029-X

1 reference

Dimensions Publication ID

2175861

1030096799

0 references

2175861

1 reference

1 reference

1 reference