Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases (Q36083108)

12 August 2017

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases (English)

1 reference

12 August 2017

0 references

64

1 reference

Margaret A. Pericak-Vance

12 August 2017

23

Alexis Brice

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67

Margaret A Pericak-Vance

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Eva-Maria Mandelkow

61

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0 references

Renee L. Sears

Renee Sears

10

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Elizabeth Finger

Elizabeth Finger

34

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Simon Lovestone

Simon Lovestone

26

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Lindsay A. Farrer

Lindsay A Farrer

68

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Eckhard Mandelkow

74

Eckhard Mandelkow

1 reference

12 August 2017

Charles L White

55

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John Q. Trojanowski

50

John Q Trojanowski

1 reference

12 August 2017

Elisavet Preza

25

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Richard Mayeux

66

Richard Mayeux

1 reference

12 August 2017

63

Ryan J Uitti

1 reference

12 August 2017

62

Zbigniew K Wszolek

1 reference

12 August 2017

54

Eliezer Masliah

1 reference

12 August 2017

71

Rosa Rademakers

1 reference

12 August 2017

29

Ronald C Petersen

1 reference

12 August 2017

73

Bruce L Miller

1 reference

12 August 2017

70

Owen A Ross

1 reference

12 August 2017

24

Michelle K Lupton

1 reference

12 August 2017

65

Jonathan L Haines

1 reference

12 August 2017

46

Thomas G Beach

1 reference

12 August 2017

57

Didier Hannequin

1 reference

12 August 2017

58

Adam L Boxer

1 reference

12 August 2017

75

Daniel H Geschwind

1 reference

12 August 2017

30

Bradley F Boeve

1 reference

12 August 2017

39

Bernardino Ghetti

1 reference

12 August 2017

43

Matthew P Frosch

1 reference

12 August 2017

59

Michael D Geschwind

1 reference

12 August 2017

Neill R Graff-Radford

28

Neill Graff-Radford

1 reference

12 August 2017

7

Suzee E Lee

1 reference

12 August 2017

13

Robert O Kenet

1 reference

12 August 2017

5

Matt C Baker

1 reference

12 August 2017

12

Anna M Karydas

1 reference

12 August 2017

1

Giovanni Coppola

1 reference

12 August 2017

31

Carol F Lippa

1 reference

12 August 2017

32

Eileen H Bigio

1 reference

12 August 2017

Vivianna M Van Deerlin

51

Vivianna M Van Deerlin

1 reference

12 August 2017

22

Isabelle Le Ber

1 reference

Alexandra I Soto-Ortolaza

12 August 2017

6

Alexandra I Soto-Ortolaza

1 reference

12 August 2017

53

Douglas R Galasko

1 reference

12 August 2017

37

Marla Gearing

1 reference

12 August 2017

Jean Paul G Vonsattel

44

Jean Paul G Vonsattel

1 reference

12 August 2017

56

Juan C Troncoso

1 reference

12 August 2017

41

Yvette M Bordelon

1 reference

12 August 2017

20

Mario F Mendez

1 reference

12 August 2017

4

Beth A Dombroski

1 reference

12 August 2017

47

Roger L Albin

1 reference

12 August 2017

21

Helena C Chui

1 reference

12 August 2017

18

Allan I Levey

1 reference

12 August 2017

48

Andrew P Lieberman

1 reference

12 August 2017

19

John M Ringman

1 reference

Alzheimer's Disease Genetics Consortium

12 August 2017

69

Alzheimer's Disease Genetics Consortium

1 reference

12 August 2017

Gerard D Schellenberg

72

Gerard D Schellenberg

1 reference

12 August 2017

17

Charles S Decarli

1 reference

12 August 2017

38

Jorge L Juncos

1 reference

12 August 2017

9

Alden Y Huang

1 reference

12 August 2017

33

Ian Mackenzie

1 reference

12 August 2017

Subashchandrabose Chinnathambi

2

1 reference

12 August 2017

Jason JiYong Lee

3

1 reference

12 August 2017

Eric Klein

8

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12 August 2017

Jessica R Lane

11

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12 August 2017

Jacek Biernat

14

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12 August 2017

Li-San Wang

15

1 reference

12 August 2017

Carl W Cotman

16

1 reference

12 August 2017

John Powell

27

1 reference

12 August 2017

Andrew Kertesz

35

1 reference

12 August 2017

Richard J Caselli

36

1 reference

12 August 2017

Salvatore Spina

40

1 reference

12 August 2017

Wallace W Tourtellotte

42

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12 August 2017

Chris Zarow

45

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Virginia M Lee

49

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Thomas D Bird

52

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12 August 2017

Satish Kumar

60

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12 August 2017

3 May 2012

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12 August 2017

Human Molecular Genetics

1 reference

12 August 2017

21

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12 August 2017

15

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12 August 2017

3500-3512

1 reference

The empirical power of rare variant association methods: results from sanger sequencing in 1,998 individuals

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Phenotypic signatures of genetic frontotemporal dementia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

The importance of synthetic associations will only be resolved empirically

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Synthetic associations created by rare variants do not explain most GWAS results

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Statistical analysis strategies for association studies involving rare variants

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Rare variants create synthetic genome-wide associations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Tau oligomers and aggregation in Alzheimer's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Genome-wide association study reveals genetic risk underlying Parkinson's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Finding the missing heritability of complex diseases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

The molecular basis of frontotemporal dementia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Structural polymorphism of 441-residue tau at single residue resolution

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Tau oligomerization: a role for tau aggregation intermediates linked to neurodegeneration

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Tau mutations in neurodegenerative diseases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Frontotemporal dementia and related disorders: deciphering the enigma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

From 1997 to 2007: a decade journey through the H1 haplotype on 17q21 chromosome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Strong association of de novo copy number mutations with autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Granular tau oligomers as intermediates of tau filaments

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

CT60 genotype does not affect CTLA-4 isoform expression despite association to T1D and AITD in northern Sweden

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Epidemiology and genetics of frontotemporal dementia/Pick's disease.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

The endogenous and cell cycle-dependent phosphorylation of tau protein in living cells: implications for Alzheimer's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

The switch of tau protein to an Alzheimer-like state includes the phosphorylation of two serine-proline motifs upstream of the microtubule binding region

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Unclassifiable tauopathy associated with an A152T variation in MAPT exon 7.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

An association study of common variation at the MAPT locus with late-onset Alzheimer's disease.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Purification of recombinant tau protein and preparation of Alzheimer-paired helical filaments in vitro.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Triggers of full-length tau aggregation: a role for partially folded intermediates.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Toward a unified scheme for the aggregation of tau into Alzheimer paired helical filaments

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392107

Structure, microtubule interactions, and paired helical filament aggregation by tau mutants of frontotemporal dementias

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22556362

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Domains of tau protein and interactions with microtubules

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22556362

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Haplotype-based association analysis of the MAPT locus in late onset Alzheimer's disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22556362

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDS161

1 reference

12 August 2017

1 reference

12 August 2017

1 reference