Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation (Q39929364)

15 September 2017

Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation (English)

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15 September 2017

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frontotemporal dementia

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Martin Ingelsson

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15 September 2017

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Lars Lannfelt

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Vilmantas Giedraitis

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15 September 2017

Lena Skoglund

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RoseMarie Brundin

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Tommie Olofsson

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Hannu Kalimo

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Sofie Ingvast

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Elin S Blom

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Hans Basun

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Anna Glaser

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15 October 2008

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https://scigraph.springernature.com/pub.10.1007/s10048-008-0155-z

15 September 2017

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Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration.

21 January 2018

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

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Familial aggregation in frontotemporal dementia.

21 January 2018

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The prevalence of frontotemporal dementia

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Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.

21 January 2018

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

21 January 2018

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Tau is a candidate gene for chromosome 17 frontotemporal dementia

21 January 2018

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

21 January 2018

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Chromosome 17 and hereditary dementia: linkage studies in three non-Alzheimer families and kindreds with late-onset FAD.

21 January 2018

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Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration

21 January 2018

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

21 January 2018

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

21 January 2018

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Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains

21 January 2018

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

21 January 2018

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Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival

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Clinical characteristics of a chromosome 17-linked rapidly progressive familial frontotemporal dementia.

21 January 2018

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Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN).

21 January 2018

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

21 January 2018

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Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype

21 January 2018

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Loss of progranulin function in frontotemporal lobar degeneration

21 January 2018

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

21 January 2018

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Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges

21 January 2018

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

21 January 2018

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A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

21 January 2018

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

21 January 2018

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Frontotemporal lobar degeneration and ubiquitin immunohistochemistry

21 January 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/18855025

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18855025

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Frontotemporal dementia and Parkinsonism linked to chromosome 17: a new group of tauopathies.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18855025

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10048-008-0155-Z

1 reference

15 September 2017

1 reference