(Q36926070)

17 August 2017

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title

The genetics of frontotemporal lobar degeneration (English)

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17 August 2017

1

Rosa Rademakers

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17 August 2017

Mike Hutton

2

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17 August 2017

publication date

1 September 2007

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Current Neurology and Neuroscience Reports

17 August 2017

published in

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17 August 2017

volume

7

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17 August 2017

issue

5

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17 August 2017

page(s)

434-442

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https://scigraph.springernature.com/pub.10.1007/s11910-007-0067-6

17 August 2017

exact match

0 references

cites work

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

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https://api.crossref.org/works/10.1007%2FS11910-007-0067-6

Functional interactions between the proline-rich and repeat regions of tau enhance microtubule binding and assembly

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Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms

21 January 2018

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Cellular localization of gene expression for progranulin

21 January 2018

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Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia

21 January 2018

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Microtubule organization and dynamics dependent on microtubule-associated proteins

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The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

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Familial non-specific dementia maps to chromosome 3

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Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations

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12 December 2020

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

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12 December 2020

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

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12 December 2020

A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology.

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12 December 2020

Frontotemporal lobar degeneration and ubiquitin immunohistochemistry

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12 December 2020

Microtubule-associated proteins regulate microtubule function as the track for intracellular membrane organelle transports

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12 December 2020

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

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12 December 2020

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

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Developmentally regulated expression of specific tau sequences

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Conversion of proepithelin to epithelins: roles of SLPI and elastase in host defense and wound repair

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Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies

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Genetic Variability in CHMP2B and Frontotemporal Dementia

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Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene

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

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12 December 2020

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

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

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Mutant valosin-containing protein causes a novel type of frontotemporal dementia

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ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

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The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene.

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p97, a protein coping with multiple identities

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Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

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Ubiquitin immunohistochemistry suggests classic motor neuron disease, motor neuron disease with dementia, and frontotemporal dementia of the motor neuron disease type represent a clinicopathologic spectrum.

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Characteristics of frontotemporal dementia patients with a Progranulin mutation

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Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.

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

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Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)

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12 December 2020

Multiple-motor based transport and its regulation by Tau.

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12 December 2020

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

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12 December 2020

Tau gene mutations: dissecting the pathogenesis of FTDP-17.

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12 December 2020

Clinicopathologic features of frontotemporal dementia with progranulin sequence variation.

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12 December 2020

Effects of frontotemporal dementia FTDP-17 mutations on heparin-induced assembly of tau filaments

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12 December 2020

Progranulin mutations in Dutch familial frontotemporal lobar degeneration

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12 December 2020

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12 December 2020

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12 December 2020

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12 December 2020

Progranulin null mutations in both sporadic and familial frontotemporal dementia

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12 December 2020

CHMP2B mutations are not a common cause of frontotemporal lobar degeneration

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12 December 2020

A protein's final ESCRT.

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12 December 2020

Progranulin is a mediator of the wound response

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12 December 2020

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

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12 December 2020

Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis

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12 December 2020

Untangling tau-related dementia

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12 December 2020

CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia

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12 December 2020

Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22.

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12 December 2020

The role of tau (MAPT) in frontotemporal dementia and related tauopathies

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12 December 2020

Frontotemporal dementia.

1 reference

12 December 2020

HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin

1 reference

12 December 2020

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

1 reference

12 December 2020

Haplotype-specific expression of exon 10 at the human MAPT locus

1 reference

12 December 2020

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

1 reference

12 December 2020

Expression of separate isoforms of human tau protein: correlation with the tau pattern in brain and effects on tubulin polymerization

1 reference

12 December 2020

10.1007/S11910-007-0067-6

Identifiers

DOI

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release_rthhslnaz5eaxmgee34d3t7wni

17 August 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/rthhslnaz5eaxmgee34d3t7wni

24 November 2022

mapped directly with Wikidata item

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