(Q55131862)

22 June 2018

title

Genetics of frontotemporal lobar degeneration. (English)

1 reference

22 June 2018

author

Daniela Galimberti

series ordinal

1

1 reference

22 June 2018

Elio Scarpini

series ordinal

2

1 reference

22 June 2018

publication date

10 April 2012

1 reference

22 June 2018

published in

Frontiers in Neurology

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22 June 2018

volume

3

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22 June 2018

page(s)

52

1 reference

22 June 2018

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

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

24 June 2018

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

24 June 2018

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A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia

24 June 2018

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Classification of primary progressive aphasia and its variants

24 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

GRN variability contributes to sporadic frontotemporal lobar degeneration

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

MCP-1 A-2518G polymorphism: effect on susceptibility for frontotemporal lobar degeneration and on cerebrospinal fluid MCP-1 levels

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

The complex aetiology of frontotemporal lobar degeneration

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Behavioral features in semantic dementia vs other forms of progressive aphasias

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

The apolipoprotein E epsilon4 allele selectively increases the risk of frontotemporal lobar degeneration in males.

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Comparison of family histories in FTLD subtypes and related tauopathies

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Progressive, isolated language disturbance: its significance in a 65-year-old-man. A case report with implications for treatment and review of literature

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Mutations causing neurodegenerative tauopathies

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Non-Alzheimer's disease dementias: anatomic, clinical, and molecular correlates

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Tau Protein in Familial and Sporadic Diseases

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Apolipoprotein E polymorphism in German patients with frontotemporal degeneration

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Comparative biochemistry of tau in progressive supranuclear palsy, corticobasal degeneration, FTDP-17 and Pick's disease

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

The apolipoprotein E epsilon4 allele is not a significant risk factor for frontotemporal dementia.

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Apolipoprotein-E genotyping in Alzheimer's disease and frontotemporal dementia.

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Apolipoprotein E polymorphism in patients with different neurodegenerative disorders.

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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.

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

From genotype to phenotype: two cases of genetic frontotemporal lobar degeneration with premorbid bipolar disorder.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Cerebrospinal fluid biomarkers in Progranulin mutations carriers.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Heterosexual pedophilia in a frontotemporal dementia patient with a mutation in the progranulin gene.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

DCUN1D1 is a risk factor for frontotemporal lobar degeneration.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

The NOS3 G894T (Glu298Asp) polymorphism is a risk factor for frontotemporal lobar degeneration

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Chromosome 3 linked frontotemporal dementia (FTD-3).

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Clinic-based cases with frontotemporal dementia show increased cerebrospinal fluid tau and high apolipoprotein E epsilon4 frequency, but no tau gene mutations.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Tau is a candidate gene for chromosome 17 frontotemporal dementia

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Apolipoprotein E gene and sporadic frontal lobe dementia.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Phenotypic Heterogeneity of the GRN Asp22fs Mutation in a Large Italian Kindred

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

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

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3332226

Differences in tau and apolipoprotein E polymorphism frequencies in sporadic frontotemporal lobar degeneration syndromes

30 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis

1 reference

12 December 2020

BAG1 is a Protective Factor for Sporadic Frontotemporal Lobar Degeneration but not for Alzheimer's Disease

1 reference

12 December 2020

Neuronal nitric oxide synthase C276T polymorphism increases the risk for frontotemporal lobar degeneration

1 reference

12 December 2020

Frontotemporal dementia

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.3389/FNEUR.2012.00052

1 reference

22 June 2018

PMC publication ID

3332226

1 reference

22 June 2018

PubMed publication ID

22536193

1 reference

22 June 2018