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The Genetics of Monogenic Frontotemporal Dementia
scientific article published in July 2015
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scholarly article
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stated in
Europe PubMed Central
PMC publication ID
5619362
retrieved
26 December 2017
reference URL
http://europepmc.org/abstract/PMC/5619362
review article
1 reference
stated in
Europe PubMed Central
title
The Genetics of Monogenic Frontotemporal Dementia
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
5619362
retrieved
26 December 2017
reference URL
http://europepmc.org/abstract/PMC/5619362
main subject
frontotemporal dementia
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based on heuristic
inferred from title
author
Leonel Tadao Takada
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
5619362
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29213965%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 June 2020
author name string
Leonel T Takada
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
5619362
retrieved
26 December 2017
reference URL
http://europepmc.org/abstract/PMC/5619362
publication date
1 July 2015
1 reference
stated in
Europe PubMed Central
PMC publication ID
5619362
retrieved
26 December 2017
reference URL
http://europepmc.org/abstract/PMC/5619362
published in
Dementia & neuropsychologia
1 reference
stated in
Europe PubMed Central
PMC publication ID
5619362
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29213965%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 June 2020
volume
9
1 reference
stated in
Europe PubMed Central
PMC publication ID
5619362
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29213965%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 June 2020
issue
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
5619362
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29213965%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 June 2020
page(s)
219-229
1 reference
stated in
Europe PubMed Central
PMC publication ID
5619362
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29213965%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 June 2020
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VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder
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A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series
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23 May 2018
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations
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Prominent phenotypic variability associated with mutations in Progranulin
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
23 May 2018
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
23 May 2018
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
23 May 2018
Comparison of family histories in FTLD subtypes and related tauopathies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
23 May 2018
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
23 May 2018
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
23 May 2018
Familial spongiform encephalopathy associated with a novel prion protein gene mutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
23 May 2018
Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
TARDBP mutation p.Ile383Val associated with semantic dementia and complex proteinopathy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
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.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
Co-occurrence of progressive anarthria with an S393L TARDBP mutation and ALS within a family.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
An English kindred with a novel recessive tauopathy and respiratory failure
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
The overlap of amyotrophic lateral sclerosis and frontotemporal dementia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5619362
retrieved
15 August 2018
Progress on progranulin
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/29213965
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Progressive supranuclear palsy-like phenotype caused by progranulin p.Thr272fs mutation
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/29213965
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/29213965
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1590/1980-57642015DN93000003
1 reference
stated in
Europe PubMed Central
PMC publication ID
5619362
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29213965%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 June 2020
PMC publication ID
5619362
1 reference
stated in
Europe PubMed Central
PMC publication ID
5619362
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29213965%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 June 2020
PubMed publication ID
29213965
1 reference
stated in
Europe PubMed Central
PMC publication ID
5619362
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29213965%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 June 2020
ResearchGate publication ID
282534602
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