(Q30503638)

1 September 2017

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

1 reference

frontotemporal lobar degeneration

1 September 2017

1 reference

11

1 reference

1 September 2017

15

1 reference

1 September 2017

19

1 reference

Christine Van Broeckhoven

1 September 2017

46

Christine Van Broeckhoven

0 references

Sebastiaan Engelborghs

44

Sebastiaan Engelborghs

1 reference

1 September 2017

William S Brooks

13

0 references

Maria Martinez-Lage

Maria Martinez-Lage

2

0 references

Howard Feldman

Howard H Feldman

41

0 references

Julie Snowden

Julie Snowden

23

0 references

Jonathan D Rohrer

Jonathan D Rohrer

39

0 references

Jeffrey Kaye

Jeffrey A Kaye

31

0 references

Glenda Halliday

Glenda M Halliday

14

0 references

Charles L White

Charles L White

Charles L White 3rd

12

0 references

John Q. Trojanowski

54

John Q Trojanowski

1 reference

1 September 2017

William Hu

4

0 references

Peter Heutink

25

Peter Heutink

1 reference

1 September 2017

8

Murray Grossman

1 reference

1 September 2017

30

Jordan Grafman

1 reference

1 September 2017

20

Rosa Rademakers

1 reference

1 September 2017

36

Bruce L Miller

1 reference

1 September 2017

32

Randall L Woltjer

1 reference

1 September 2017

17

Thomas G Beach

1 reference

1 September 2017

21

Bradley F Boeve

1 reference

1 September 2017

48

Nigel J Cairns

1 reference

1 September 2017

28

Bernardino Ghetti

1 reference

1 September 2017

50

Matthew P Frosch

1 reference

1 September 2017

Neill R Graff-Radford

18

Neill R Graff-Radford

1 reference

1 September 2017

34

Eileen Bigio

1 reference

1 September 2017

42

Ronald L Hamilton

1 reference

1 September 2017

24

John C van Swieten

1 reference

1 September 2017

26

Harro Seelaar

1 reference

1 September 2017

10

Kimmo J Hatanpaa

1 reference

1 September 2017

Vivianna M Van Deerlin

55

Vivianna M Van Deerlin

1 reference

1 September 2017

45

Peter P De Deyn

1 reference

1 September 2017

43

Marc Cruts

1 reference

1 September 2017

3

Patrick M A Sleiman

1 reference

1 September 2017

1

Alice S Chen-Plotkin

1 reference

1 September 2017

33

Marsel Mesulam

1 reference

1 September 2017

Albert Llado Plarrumani

35

Albert Lladó

1 reference

1 September 2017

37

Ainhoa Alzualde

1 reference

1 September 2017

16

Marla Gearing

1 reference

1 September 2017

51

Peter F Riederer

1 reference

1 September 2017

52

Nenad Bogdanovic

1 reference

1 September 2017

27

Jill R Murrell

1 reference

1 September 2017

Gerard D Schellenberg

9

Gerard D Schellenberg

1 reference

1 September 2017

38

Fermin Moreno

1 reference

1 September 2017

Robert Greene

5

1 reference

1 September 2017

Elisabeth McCarty Wood

6

1 reference

1 September 2017

Shaoxu Bing

7

1 reference

1 September 2017

Salvatore Spina

29

1 reference

1 September 2017

Ian R A Mackenzie

40

1 reference

1 September 2017

Thomas D Bird

47

1 reference

1 September 2017

Allison Goate

49

1 reference

1 September 2017

Virginia M Y Lee

53

1 reference

1 September 2017

1 April 2011

1 reference

1 September 2017

Archives of Neurology

1 reference

1 September 2017

68

1 reference

1 September 2017

4

1 reference

1 September 2017

488-497

1 reference

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

1 reference

1 September 2017

PubMed publication ID

21482928

1 reference