Progranulin null mutations in both sporadic and familial frontotemporal dementia (Q80162804)

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29 December 2019

title

Progranulin null mutations in both sporadic and familial frontotemporal dementia (English)

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29 December 2019

main subject

frontotemporal dementia

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Didier Hannequin

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29 December 2019

Dominique Campion

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Christine Van Broeckhoven

29 December 2019

object named as

Christine Van Broeckhoven

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29 December 2019

François Sellal

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29 December 2019

Charles Duyckaerts

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29 December 2019

Marc Cruts

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29 December 2019

Isabelle Le Ber

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29 December 2019

Julie van der Zee

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29 December 2019

Ilse Gijselinck

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29 December 2019

Michèle Puel

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29 December 2019

Annie Laquerrière

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29 December 2019

Tim De Pooter

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29 December 2019

Agnès Camuzat

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29 December 2019

Marleen Van den Broeck

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29 December 2019

Bruno Dubois

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29 December 2019

Lucette Lacomblez

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29 December 2019

Martine Vercelletto

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29 December 2019

Catherine Thomas-Antérion

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29 December 2019

Bernard-François Michel

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29 December 2019

Véronique Golfier

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29 December 2019

Mira Didic

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29 December 2019

François Salachas

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29 December 2019

Patrice Verpillat

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29 December 2019

Alexis Brice

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29 December 2019

French Research Network on FTD/FTD-MND

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29 December 2019

publication date

1 September 2007

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29 December 2019

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29 December 2019

volume

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29 December 2019

issue

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29 December 2019

page(s)

846-855

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TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

29 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20520

7 January 2021

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

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7 January 2021

Granulins: the structure and function of an emerging family of growth factors

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7 January 2021

Tandem repeats finder: a program to analyze DNA sequences

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7 January 2021

Progranulin mutations in Dutch familial frontotemporal lobar degeneration

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7 January 2021

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

1 reference

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7 January 2021

Cellular localization of gene expression for progranulin

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7 January 2021

Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis

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7 January 2021

Progranulin is a mediator of the wound response

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7 January 2021

Characteristics of frontotemporal dementia patients with a Progranulin mutation

1 reference

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7 January 2021

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

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7 January 2021

Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22.

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7 January 2021

Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups

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7 January 2021

A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17

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7 January 2021

The U1 snRNP base pairs with the 5' splice site within a penta-snRNP complex

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7 January 2021

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

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7 January 2021

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

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7 January 2021

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

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7 January 2021

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

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7 January 2021

Tau is a candidate gene for chromosome 17 frontotemporal dementia

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7 January 2021

Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval

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7 January 2021

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

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7 January 2021

Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22.

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7 January 2021

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

1 reference

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7 January 2021

Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia

1 reference

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7 January 2021

Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

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7 January 2021

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

novoSNP, a novel computational tool for sequence variation discovery

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20520

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17436289%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

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