Prominent phenotypic variability associated with mutations in Progranulin (Q35188858)

7 August 2017

Prominent phenotypic variability associated with mutations in Progranulin (English)

1 reference

7 August 2017

8

1 reference

7 August 2017

Stuart Pickering-Brown

15

1 reference

7 August 2017

18

1 reference

7 August 2017

Glenn E Smith

20

0 references

Rosa Rademakers

13

object named as

Rosa Rademakers

1 reference

7 August 2017

22

Ronald C Petersen

1 reference

7 August 2017

10

David S Knopman

1 reference

7 August 2017

3

Bradley F Boeve

1 reference

7 August 2017

Neill R Graff-Radford

5

object named as

Neill R Graff-Radford

1 reference

7 August 2017

11

Keith A Josephs

1 reference

7 August 2017

21

Robert J Ivnik

1 reference

7 August 2017

9

Maria Shiung

1 reference

7 August 2017

19

Joseph E Parisi

1 reference

7 August 2017

17

Karen M Kuntz

1 reference

7 August 2017

4

Matt Baker

1 reference

7 August 2017

1

Brendan J Kelley

1 reference

7 August 2017

2

Wael Haidar

1 reference

7 August 2017

Thomas Krefft

6

1 reference

7 August 2017

Andrew R Frank

7

1 reference

7 August 2017

Sotirios A Parashos

12

1 reference

7 August 2017

Mike Hutton

14

1 reference

7 August 2017

Jennifer Adamson

16

1 reference

7 August 2017

18 October 2007

1 reference

7 August 2017

Neurobiology of Aging

1 reference

7 August 2017

30

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7 August 2017

5

1 reference

7 August 2017

739-751

1 reference

Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Distinctive MRI findings in pallidopontonigral degeneration (PPND).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Ubiquitinated TDP-43 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=3164546

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Characteristics of frontotemporal dementia patients with a Progranulin mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Clinically undetected motor neuron disease in pathologically proven frontotemporal lobar degeneration with motor neuron 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=3164546

Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in 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=3164546

The evolution and pathology 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=3164546

Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Granulin precursor gene: a sex steroid-inducible gene involved in sexual differentiation of the rat brain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick'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=3164546

Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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=3164546

Familial dementia lacking specific pathological features presenting with clinical features of corticobasal degeneration.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Dementia lacking distinctive histologic features: a common non-Alzheimer degenerative 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=3164546

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Clinicopathologic features of frontotemporal dementia with progranulin sequence variation.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

A novel deletion in progranulin gene is associated with FTDP-17 and CBS.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Frontotemporal dementia with ubiquitinated neuronal inclusions and visuospatial impairment.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Motor neuron disease-inclusion dementia presenting as cortical-basal ganglionic degeneration.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

The Effect of tau genotype on clinical features in FTDP-17

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

Corticobasal Degeneration and Frontotemporal Dementia Presentations in a Kindred with Nonspecific Histopathology

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3164546

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

15 November 2018

1 reference

12 December 2020

Frontotemporal dementia linked to chromosome 3

1 reference

12 December 2020

Frontotemporal lobar degeneration and ubiquitin immunohistochemistry

1 reference

12 December 2020

Consensus recommendations for the postmortem diagnosis of Alzheimer's disease. The National Institute on Aging, and Reagan Institute Working Group on Diagnostic Criteria for the Neuropathological Assessment of Alzheimer's Disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Dementia lacking distinctive histology (DLDH) revisited

1 reference

12 December 2020

10.1016/J.NEUROBIOLAGING.2007.08.022

Identifiers

DOI

1 reference

7 August 2017

1 reference

7 August 2017

1 reference