Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration (Q34038343)

30 July 2017

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration (English)

1 reference

frontotemporal lobar degeneration

30 July 2017

1 reference

Christine Van Broeckhoven

inferred from title

author

80

Christine Van Broeckhoven

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Julie van der Zee

1

Julie van der Zee

0 references

Janine Diehl-Schmid

40

Gabriel Miltenberger-Miltényi

Janine Diehl-Schmid

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31

Gabriel Miltenberger-Miltényi

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Kristel Sleegers

79

Kristel Sleegers

1 reference

30 July 2017

7

Radoslav Matěj

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30 July 2017

47

Ludger Schöls

1 reference

Jennifer Müller Vom Hagen

30 July 2017

44

Matthis Synofzik

0 references

46

Jennifer Müller vom Hagen

1 reference

30 July 2017

Sebastiaan Engelborghs

6

Sebastiaan Engelborghs

1 reference

Frederico Simões do Couto

30 July 2017

Silvia Testi

68

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Frederico Simões do Couto

32

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Cristina Razquin

Cristina Razquin

25

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Maria R Almeida

Maria Rosário Almeida

55

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Philip Van Damme

Philip Van Damme

12

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Caroline Graff

Caroline Graff

36

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Alfredo Ramirez

Alfredo Ramirez

59

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Isabel Santana

Isabel Santana

54

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Jordi Clarimón

Jordi Clarimón

52

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Luisa Benussi

Luisa Benussi

18

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Roberta Ghidoni

Roberta Ghidoni

20

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Robert Perneczky

Robert Perneczky

39

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Holger Prokisch

Holger Prokisch

50

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Raquel Sanchez-Valle

Raquel Sanchez-Valle

60

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Rik Vandenberghe

Rik Vandenberghe

76

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Pau Pastor

Pau Pastor

24

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Eric Salmon

Eric Salmon

69

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Benedetta Nacmias

Benedetta Nacmias

34

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Gabor G. Kovacs

Gabor G Kovacs

3

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Sandro Sorbi

Sandro Sorbi

33

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Giovanni B. Frisoni

Giovanni B Frisoni

42

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Walter Maetzler

45

Walter Maetzler

1 reference

30 July 2017

21

Barbara Borroni

1 reference

30 July 2017

10

Bart Dermaut

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30 July 2017

22

Alessandro Padovani

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30 July 2017

Alexandre de Mendonça

30

Alexandre de Mendonça

1 reference

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38

Håkan Thonberg

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62

Ellen Gelpi

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65

Albena Jordanova

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71

Patrick Santens

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72

Wim Robberecht

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73

Peter De Jonghe

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8

Mathieu Vandenbulcke

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4

Lubina Dillen

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53

Alberto Lleó

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63

Stayko Sarafov

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64

Ivailo Tournev

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30 July 2017

57

Michael T Heneka

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75

Patrick Cras

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30 July 2017

78

Marc Cruts

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11

Katrien Smets

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26

Sara Ortega-Cubero

1 reference

30 July 2017

19

Giuliano Binetti

1 reference

30 July 2017

28

Mercè Boada

1 reference

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35

Silvia Bagnoli

1 reference

30 July 2017

Albert Llado Plarrumani

61

Albert Llado

1 reference

30 July 2017

67

Gian Maria Fabrizi

1 reference

30 July 2017

2

Tim Van Langenhove

1 reference

30 July 2017

9

Anne Sieben

1 reference

30 July 2017

23

Silvana Archetti

1 reference

30 July 2017

37

Huei-Hsin Chiang

1 reference

Beatriz Santiago González

30 July 2017

56

Beatriz Santiago

1 reference

30 July 2017

66

Eva Parobkova

1 reference

30 July 2017

74

Jean-Jacques Martin

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30 July 2017

77

Peter Paul De Deyn

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16

Maria Mattheijssens

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30 July 2017

13

Céline Merlin

1 reference

30 July 2017

Marleen Van den Broeck

15

Marleen Van Den Broeck

1 reference

30 July 2017

51

Oriol Dols-Icardo

1 reference

30 July 2017

49

Tim M Strom

1 reference

30 July 2017

58

Frank Jessen

1 reference

30 July 2017

Panagiotis Alexopoulos

41

Panagiotis Alexopoulos

1 reference

30 July 2017

William Deschamps

5

1 reference

30 July 2017

Annelies Laureys

14

1 reference

30 July 2017

Karin Peeters

17

1 reference

30 July 2017

Isabel Hernández

27

1 reference

30 July 2017

Agustín Ruiz

29

1 reference

30 July 2017

Christian Bonvicini

43

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30 July 2017

Tobias B Haack

48

1 reference

30 July 2017

Thomas Ströbel

70

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30 July 2017

5 June 2014

1 reference

30 July 2017

Acta Neuropathologica

1 reference

30 July 2017

128

1 reference

30 July 2017

397-410

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30 July 2017

3

1 reference

Creative Commons Attribution 4.0 International

30 July 2017

start time

5 June 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s00401-014-1298-7

0 references

cites work

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

A harmonized classification system for FTLD-TDP pathology

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

novoSNP, a novel computational tool for sequence variation discovery

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

Transcriptional activation of p62/A170/ZIP during the formation of the aggregates: possible mechanisms and the role in Lewy body formation in Parkinson's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

Ubiquitin-binding protein p62 is present in neuronal and glial inclusions in human tauopathies and synucleinopathies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

Neuronal and glial inclusions in frontotemporal dementia with or without motor neuron disease are immunopositive for p62

28 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

p62/sequestosome 1 binds to TDP-43 in brains with frontotemporal lobar degeneration with TDP-43 inclusions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131163

Founder Effect in Different European Countries for the Recurrent P392L SQSTM1 Mutation in Paget’s Disease of Bone

29 October 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1298-7

Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24899140

12 December 2020

inferred from PubMed ID database lookup

Immunoreactivities of p62, an ubiqutin-binding protein, in the spinal anterior horn cells of patients with amyotrophic lateral sclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24899140

12 December 2020

inferred from PubMed ID database lookup

SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24899140

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00401-014-1298-7

1 reference

Dimensions Publication ID

30 July 2017

0 references

1 reference

30 July 2017

1 reference