Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration (Q30503638)

1 September 2017

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration (English)

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frontotemporal lobar degeneration

1 September 2017

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11

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Christine Van Broeckhoven

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46

Christine Van Broeckhoven

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Sebastiaan Engelborghs

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Sebastiaan Engelborghs

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1 September 2017

William S Brooks

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Maria Martinez-Lage

Maria Martinez-Lage

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Howard Feldman

Howard H Feldman

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Julie Snowden

Julie Snowden

23

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Jonathan D Rohrer

Jonathan D Rohrer

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Jeffrey Kaye

Jeffrey A Kaye

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Glenda Halliday

Glenda M Halliday

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Charles L White

Charles L White

Charles L White 3rd

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John Q. Trojanowski

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John Q Trojanowski

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1 September 2017

William Hu

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Peter Heutink

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Peter Heutink

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Murray Grossman

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Jordan Grafman

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Rosa Rademakers

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Bruce L Miller

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Randall L Woltjer

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Thomas G Beach

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Bradley F Boeve

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Nigel J Cairns

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Bernardino Ghetti

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Matthew P Frosch

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Neill R Graff-Radford

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Neill R Graff-Radford

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Eileen Bigio

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Ronald L Hamilton

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John C van Swieten

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Harro Seelaar

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Kimmo J Hatanpaa

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Vivianna M Van Deerlin

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Vivianna M Van Deerlin

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Peter P De Deyn

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Marc Cruts

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Patrick M A Sleiman

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1

Alice S Chen-Plotkin

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33

Marsel Mesulam

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1 September 2017

Albert Llado Plarrumani

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Albert Lladó

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1 September 2017

37

Ainhoa Alzualde

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Marla Gearing

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51

Peter F Riederer

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Nenad Bogdanovic

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Jill R Murrell

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Gerard D Schellenberg

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Gerard D Schellenberg

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Fermin Moreno

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Robert Greene

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Elisabeth McCarty Wood

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Shaoxu Bing

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Salvatore Spina

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Ian R A Mackenzie

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Thomas D Bird

47

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Allison Goate

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Virginia M Y Lee

53

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1 September 2017

1 April 2011

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1 September 2017

Archives of Neurology

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1 September 2017

68

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4

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1 September 2017

488-497

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

1 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

Brain progranulin expression in GRN-associated frontotemporal lobar degeneration

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

Loss of progranulin function in frontotemporal lobar degeneration

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

Prominent phenotypic variability associated with mutations in Progranulin

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

The neuropathology and clinical phenotype of FTD with progranulin mutations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

Characteristics of frontotemporal dementia patients with a Progranulin mutation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

Primary Progressive Aphasia — A Language-Based Dementia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

Progranulin is a mediator of the wound response

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

The prevalence of frontotemporal dementia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

Granulins, a novel class of peptide from leukocytes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

Epithelins 1 and 2: isolation and characterization of two cysteine-rich growth-modulating proteins

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

The epithelin precursor encodes two proteins with opposing activities on epithelial cell growth

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

Corticobasal syndrome associated with the A9D Progranulin mutation

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

Tau is a candidate gene for chromosome 17 frontotemporal dementia

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3160280

Progranulin locus deletion in frontotemporal dementia

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21482928

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Progranulin null mutations in both sporadic and familial frontotemporal dementia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21482928

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/ARCHNEUROL.2011.53

1 reference

1 September 2017

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1 September 2017

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