TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions (Q37730909)

22 August 2017

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions (English)

1 reference

frontotemporal lobar degeneration

22 August 2017

1 reference

based on heuristic

inferred from title

author

Christine Van Broeckhoven

13

Christine Van Broeckhoven

0 references

Ilse Gijselinck

33

Ilse Gijselinck

0 references

Charles DeCarli

27

Charles DeCarli

0 references

Sebastiaan Engelborghs

29

Sebastiaan Engelborghs

1 reference

22 August 2017

Johnathan Cooper-Knock

Johnathan Cooper-Knock

22

0 references

William S Brooks

William Brooks

20

0 references

Lisa C. Silbert

Lisa C Silbert

65

0 references

Janine Kirby

Janine Kirby

42

0 references

Jillian J. Kril

Jillian Kril

44

0 references

Raquel Sanchez-Valle

Raquel Sanchez-Valle

62

0 references

Jonathan D Rohrer

Jonathan D Rohrer

11

0 references

Jason D. Warren

Jason Warren

69

0 references

Pamela Shaw

Pamela J Shaw

15

0 references

Nick C. Fox

Nick Fox

30

0 references

Glenda Halliday

Glenda Halliday

12

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Charles L White

Charles L White

71

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John Q. Trojanowski

73

John Q Trojanowski

1 reference

22 August 2017

Olivier Piguet

60

0 references

Martin Rossor

Martin Rossor

61

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Eliezer Masliah

50

Eliezer Masliah

1 reference

22 August 2017

3

Murray Grossman

1 reference

22 August 2017

34

Jordan Grafman

1 reference

22 August 2017

8

Manuela Neumann

1 reference

22 August 2017

72

Randall L Woltjer

1 reference

22 August 2017

53

Catriona McLean

1 reference

22 August 2017

21

Nigel J Cairns

1 reference

22 August 2017

10

Bernardino Ghetti

1 reference

22 August 2017

16

Matthew P Frosch

1 reference

22 August 2017

38

John Hodges

1 reference

22 August 2017

31

Douglas Galasko

1 reference

22 August 2017

43

Julia Kofler

1 reference

22 August 2017

45

John B J Kwok

1 reference

22 August 2017

68

Tim Van Langenhove

1 reference

22 August 2017

25

Marc Cruts

1 reference

22 August 2017

28

Carol Dobson-Stone

1 reference

22 August 2017

64

Julie Schneider

1 reference

22 August 2017

55

Carol A Miller

1 reference

22 August 2017

57

David G Munoz

1 reference

22 August 2017

6

John C Van Swieten

1 reference

22 August 2017

36

Kimmo J Hatanpaa

1 reference

22 August 2017

Vivianna M Van Deerlin

75

Vivianna Van Deerlin

1 reference

22 August 2017

26

Peter P De Deyn

1 reference

22 August 2017

49

Jean-Jacques Martin

1 reference

22 August 2017

76

Alice S Chen-Plotkin

1 reference

22 August 2017

47

Andrew Lieberman

1 reference

22 August 2017

7

Safa Al-Sarraj

1 reference

22 August 2017

32

Marla Gearing

1 reference

22 August 2017

46

Allan Levey

1 reference

22 August 2017

17

Irina Alafuzoff

1 reference

22 August 2017

35

Päivi Hartikainen

1 reference

22 August 2017

14

Danielle Seilhean

1 reference

22 August 2017

19

Nenad Bogdanovic

1 reference

22 August 2017

24

Patrick Cras

1 reference

22 August 2017

Albert Llado Plarrumani

48

Albert Llado

1 reference

22 August 2017

18

Anna Antonell

1 reference

22 August 2017

54

Simon Mead

1 reference

22 August 2017

40

Paul G Ince

1 reference

22 August 2017

70

Stephen B Wharton

1 reference

22 August 2017

5

Leo McCluskey

1 reference

22 August 2017

52

Ann McKee

1 reference

22 August 2017

63

Mary Sano

1 reference

22 August 2017

Michael D Gallagher

1

1 reference

22 August 2017

Eunran Suh

2

1 reference

22 August 2017

Lauren Elman

4

1 reference

22 August 2017

Ellen Gelpi

9

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22 August 2017

Carl Cotman

23

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22 August 2017

J Robin Highley

37

1 reference

22 August 2017

Christine Hulette

39

1 reference

22 August 2017

Lee-Way Jin

41

1 reference

22 August 2017

Christopher J McDermott

51

1 reference

22 August 2017

Josh Miller

56

1 reference

22 August 2017

Jill Murrell

58

1 reference

22 August 2017

Henry Paulson

59

1 reference

22 August 2017

Salvatore Spina

66

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22 August 2017

Virginia M Y Lee

74

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22 August 2017

19 January 2014

1 reference

22 August 2017

Acta Neuropathologica

1 reference

22 August 2017

127

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22 August 2017

407-418

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22 August 2017

3

1 reference

https://scigraph.springernature.com/pub.10.1007/s00401-013-1239-x

22 August 2017

0 references

cites work

A platform for discovery: The University of Pennsylvania Integrated Neurodegenerative Disease Biobank

1 reference

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TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

Pervasive sign epistasis between conjugative plasmids and drug-resistance chromosomal mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

Building an integrated neurodegenerative disease database at an academic health center

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

A harmonized classification system for FTLD-TDP pathology

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

Plasma epidermal growth factor levels predict cognitive decline in Parkinson disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

Classification of primary progressive aphasia and its variants

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

Perspective: Sign epistasis and genetic constraint on evolutionary trajectories

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

Dobzhansky-Muller incompatibilities in protein evolution

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

23 August 2017

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Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop

23 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

Patterns of Epistasis between beneficial mutations in an antibiotic resistance gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

Mechanisms and convergence of compensatory evolution in mammalian mitochondrial tRNAs

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

Multidimensional epistasis and fitness landscapes in enzyme evolution

1 September 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4003885

1 October 2018

https://api.crossref.org/works/10.1007%2FS00401-013-1239-X

10.1007/S00401-013-1239-X

21 January 2018

Identifiers

DOI

1 reference

22 August 2017

1 reference

22 August 2017

1 reference