(Q37664119)

21 August 2017

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (English)

1 reference

amyotrophic lateral sclerosis

21 August 2017

0 references

0 references

1 reference

frontotemporal dementia

1 reference

based on heuristic

inferred from title

author

Christine Van Broeckhoven

42

0 references

Julie van der Zee

1

Julie van der Zee

0 references

Ilse Gijselinck

2

Ilse Gijselinck

0 references

Janine Diehl-Schmid

15

Gabriel Miltenberger-Miltényi

Janine Diehl-Schmid

0 references

29

Gabriel Miltenberger-Miltényi

0 references

Sara Van Mossevelde

3

Sara Van Mossevelde

0 references

Veerle Bäumer

7

Veerle Bäumer

0 references

Kristel Sleegers

40

Kristel Sleegers

1 reference

21 August 2017

20

Ludger Schöls

1 reference

21 August 2017

18

Matthis Synofzik

0 references

Sebastiaan Engelborghs

8

Sebastiaan Engelborghs

1 reference

Frederico Simões do Couto

21 August 2017

Frederico Simões do Couto

30

0 references

Alfredo Ramirez

Alfredo Ramirez

31

0 references

Philip Van Damme

Philip Van Damme

47

0 references

Luisa Benussi

Luisa Benussi

62

0 references

Roberta Ghidoni

Roberta Ghidoni

63

0 references

Robert Perneczky

Robert Perneczky

17

0 references

Raquel Sanchez-Valle

Raquel Sanchez-Valle

72

0 references

Pau Pastor

Pau Pastor

60

0 references

Eric Salmon

Eric Salmon

59

0 references

Benedetta Nacmias

Benedetta Nacmias

69

0 references

Gabor G. Kovacs

Gabor G Kovacs

80

0 references

Walter Maetzler

77

Walter Maetzler

1 reference

21 August 2017

21

Caroline Graff

1 reference

21 August 2017

23

Barbara Borroni

1 reference

21 August 2017

9

Jan De Bleecker

1 reference

21 August 2017

10

Jonathan Baets

1 reference

21 August 2017

11

Ellen Gelpi

1 reference

21 August 2017

13

Jordi Clarimón

1 reference

21 August 2017

22

Håkan Thonberg

1 reference

21 August 2017

24

Alessandro Padovani

1 reference

21 August 2017

25

Albena Jordanova

1 reference

21 August 2017

Alexandre de Mendonça

28

Alexandre de Mendonça

1 reference

21 August 2017

37

Rik Vandenberghe

1 reference

21 August 2017

38

Peter De Jonghe

1 reference

21 August 2017

46

Wim Robberecht

1 reference

21 August 2017

48

Jan De Bleecker

1 reference

21 August 2017

49

Patrick Santens

1 reference

21 August 2017

50

Bart Dermaut

1 reference

21 August 2017

51

Jan Versijpt

1 reference

21 August 2017

Olivier Maurice Deryck

54

Olivier Deryck

1 reference

21 August 2017

68

Sandro Sorbi

1 reference

21 August 2017

74

Isabel Santana

1 reference

21 August 2017

75

Maria Rosário Almeida

1 reference

21 August 2017

76

Giovanni B Frisoni

1 reference

21 August 2017

78

Radoslav Matej

1 reference

21 August 2017

82

Silvia Testi

1 reference

21 August 2017

55

Bruno Bergmans

1 reference

21 August 2017

5

Lubina Dillen

1 reference

21 August 2017

6

Bavo Heeman

1 reference

21 August 2017

14

Alberto Lleó

1 reference

21 August 2017

26

Stayko Sarafov

1 reference

21 August 2017

27

Ivailo Tournev

1 reference

21 August 2017

33

Michael T Heneka

1 reference

21 August 2017

35

Adrian Danek

1 reference

21 August 2017

36

Patrick Cras

1 reference

21 August 2017

39

Peter P De Deyn

1 reference

21 August 2017

41

Marc Cruts

1 reference

21 August 2017

45

Katrien Smets

1 reference

21 August 2017

53

Adrian Ivanoiu

1 reference

21 August 2017

61

Sara Ortega-Cubero

1 reference

21 August 2017

64

Giuliano Binetti

1 reference

21 August 2017

66

Mercè Boada

1 reference

21 August 2017

70

Silvia Bagnoli

1 reference

21 August 2017

Albert Llado Plarrumani

73

Albert Llado

1 reference

21 August 2017

81

Gian Maria Fabrizi

1 reference

21 August 2017

43

Johan Goeman

1 reference

21 August 2017

4

Federica Perrone

1 reference

21 August 2017

71

Sandro Sorbi

1 reference

21 August 2017

Estrella Gómez-Tortosa

34

Estrella Gómez-Tortosa

1 reference

21 August 2017

44

Dirk Nuytten

1 reference

21 August 2017

52

Alex Michotte

1 reference

21 August 2017

57

Marc Bruyland

1 reference

21 August 2017

58

Christiana Willems

1 reference

21 August 2017

79

Matthew J Fraidakis

1 reference

21 August 2017

32

Frank Jessen

1 reference

21 August 2017

Panagiotis Alexopoulos

16

Panagiotis Alexopoulos

1 reference

21 August 2017

Ricardo Rojas-García

12

1 reference

21 August 2017

Jennifer Just

19

1 reference

21 August 2017

Jean Delbeck

56

1 reference

21 August 2017

Isabel Hernández

65

1 reference

21 August 2017

Agustín Ruiz

67

1 reference

21 August 2017

23 December 2016

1 reference

21 August 2017

1 reference

21 August 2017

38

1 reference

21 August 2017

3

1 reference

21 August 2017

297-309

1 reference

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

TDP-43 deposition in prospectively followed, cognitively normal elderly individuals: correlation with argyrophilic grains but not other concomitant pathologies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

Crystal structure and mechanism of activation of TANK-binding kinase 1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

TBK-1 Promotes Autophagy-Mediated Antimicrobial Defense by Controlling Autophagosome Maturation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

Locus-specific mutation databases for neurodegenerative brain diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

A harmonized classification system for FTLD-TDP pathology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

Classification of primary progressive aphasia and its variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

Exome sequencing reveals VCP mutations as a cause of familial ALS

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

Mutations in the FUS/TLS gene on chromosome 16 cause familial 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=5324646

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

TARDBP mutations in individuals with sporadic and familial 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=5324646

TDP-43 mutations in familial and sporadic 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=5324646

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

El Escorial revisited: revised criteria for the diagnosis of 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=5324646

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

Tau-positive grains are constant in centenarians' hippocampus.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

TARDBP mutation p.Ile383Val associated with semantic dementia and complex proteinopathy.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

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=5324646

Genetic contribution of FUS to frontotemporal lobar degeneration

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5324646

Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.23161

Accumulation of phosphorylated TDP-43 in brains of patients with argyrophilic grain disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28008748

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Staging of argyrophilic grains: an age-associated tauopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28008748

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.23161

1 reference

21 August 2017

1 reference

21 August 2017

1 reference