(Q37621660)

21 August 2017

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia (English)

1 reference

21 August 2017

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frontotemporal dementia

1 reference

38

1 reference

21 August 2017

Marka van Blitterswijk

1

Mariely DeJesus-Hernandez

Marka van Blitterswijk

0 references

7

Mariely DeJesus-Hernandez

0 references

Kevin F. Bieniek

Kevin F Bieniek

4

0 references

Elizabeth Finger

Elizabeth Finger

14

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Melissa E. Murray

Melissa E Murray

10

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Lea T Grinberg

Lea T Grinberg

33

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Michael J Strong

Michael J Strong

21

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Charles L White

Charles L White

20

0 references

Leonard Petrucelli

26

Leonard Petrucelli

1 reference

21 August 2017

23

Zbigniew K Wszolek

1 reference

21 August 2017

39

Rosa Rademakers

1 reference

21 August 2017

30

Ronald C Petersen

1 reference

21 August 2017

34

Bruce L Miller

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21 August 2017

22

Thomas G Beach

1 reference

21 August 2017

32

William W Seeley

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21 August 2017

29

David S Knopman

1 reference

21 August 2017

37

Bradley F Boeve

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21 August 2017

Neill R Graff-Radford

36

Neill R Graff-Radford

1 reference

21 August 2017

27

Keith A Josephs

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21 August 2017

11

Ging-Yuek R Hsiung

1 reference

21 August 2017

5

Michael G Heckman

1 reference

21 August 2017

28

Joseph E Parisi

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21 August 2017

35

Kevin B Boylan

1 reference

21 August 2017

3

Alexandra M Nicholson

1 reference

21 August 2017

13

Anna M Karydas

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21 August 2017

8

Nicole A Finch

1 reference

21 August 2017

12

Heather Stewart

1 reference

21 August 2017

24

Carol Lippa

1 reference

21 August 2017

16

Eileen H Bigio

1 reference

21 August 2017

2

Bianca Mullen

1 reference

21 August 2017

17

Sandra Weintraub

1 reference

21 August 2017

18

Marsel Mesulam

1 reference

21 August 2017

19

Kimmo J Hatanpaa

1 reference

21 August 2017

Matthew C Baker

6

1 reference

21 August 2017

Patricia H Brown

9

1 reference

21 August 2017

Andrew Kertesz

15

1 reference

21 August 2017

Richard Caselli

25

1 reference

21 August 2017

Ian R Mackenzie

31

1 reference

21 August 2017

3 January 2014

1 reference

21 August 2017

Acta Neuropathologica

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21 August 2017

127

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21 August 2017

3

1 reference

21 August 2017

397-406

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C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3944829

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3944829

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=3944829

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=3944829

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=3944829

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=3944829

Large C9orf72 repeat expansions are not a common cause of Parkinson'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=3944829

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=3944829

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=3944829

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=3944829

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease 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=3944829

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=3944829

The p97 ATPase associates with EEA1 to regulate the size of early endosomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3944829

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=3944829

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=3944829

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=3944829

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=3944829

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B 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=3944829

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=3944829

ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3944829

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and 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=3944829

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=3944829

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3944829

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3944829

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3944829

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3944829

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3944829

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

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3944829

The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3944829

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00401-013-1240-4

10.1007/S00401-013-1240-4

21 January 2018

Identifiers

DOI

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24385136

1 reference