Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series (Q59543705)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

frontotemporal lobar degeneration

5 January 2020

main subject

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Cristian Bonvicini

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Giuseppe Bellelli

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Daniela Galimberti

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Elio Scarpini

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Luigi Caimi

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Monica Di Luca

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

2

Silvana Archetti

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

3

Antonella Alberici

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

4

Chiara Agosti

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

author name string

Barbara Bigni

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Maria Ferrari

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Diego Di Lorenzo

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Alessandro Padovani

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Barbara Borroni

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Carlo Caltagirone

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

publication date

8 April 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

page(s)

197-205

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10048-008-0127-3

5 January 2020

exact match

0 references

cites work

Prevalence of TAU mutations in an Italian clinical series of familial frontotemporal patients

1 reference

12 December 2020

Latent profile analysis in frontotemporal lobar degeneration and related disorders: clinical presentation and SPECT functional correlates

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Prominent phenotypic variability associated with mutations in Progranulin

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

1 reference

12 December 2020

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

1 reference

12 December 2020

Progranulin null mutations in both sporadic and familial frontotemporal dementia

1 reference

12 December 2020

Pick's complex and FTDP-17

1 reference

12 December 2020

Progranulin locus deletion in frontotemporal dementia

1 reference

12 December 2020

Involvement of granulin in estrogen-induced neurogenesis in the adult rat hippocampus

1 reference

12 December 2020

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

1 reference

12 December 2020

Progranulin: normal function and role in neurodegeneration

1 reference

12 December 2020

Automated splicing mutation analysis by information theory.

1 reference

12 December 2020

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

1 reference

12 December 2020

Heterogeneity within a large kindred with frontotemporal dementia: A novel progranulin mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10048-008-0127-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18392865%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference