(Q61853785)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19768372%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia (English)

1 reference

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8 February 2020

1 reference

frontotemporal dementia

1 reference

6

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8 February 2020

Rosanna Colao

10

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8 February 2020

Nicoletta Smirne

12

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8 February 2020

14

Amalia Cecilia Bruni

1 reference

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8 February 2020

8

Maria Anfossi

1 reference

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8 February 2020

3

Gianfranco Puccio

1 reference

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8 February 2020

13

Raffaele G Maletta

1 reference

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8 February 2020

author name string

Maura Gallo

1

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8 February 2020

Carmine Tomaino

2

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8 February 2020

Francesca Frangipane

4

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8 February 2020

Silvana Geracitano

7

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8 February 2020

Maria Mirabelli

9

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8 February 2020

Franca Vasso

11

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8 February 2020

Sabrina A M Curcio

5

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8 February 2020

publication date

19 September 2009

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8 February 2020

published in

Neurological Sciences

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8 February 2020

volume

31

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8 February 2020

issue

1

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8 February 2020

page(s)

65-70

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https://scigraph.springernature.com/pub.10.1007/s10072-009-0132-9

8 February 2020

exact match

0 references

cites work

Association of an extended haplotype in the tau gene with progressive supranuclear palsy

1 reference

12 December 2020

Tau haplotype frequency in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

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12 December 2020

The genetic causes of neurodegenerative diseases

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12 December 2020

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

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12 December 2020

Which neuropsychiatric and behavioural features distinguish frontal and temporal variants of frontotemporal dementia from Alzheimer's disease?

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12 December 2020

A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques

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12 December 2020

The effects of APOE and tau gene variability on risk of frontotemporal dementia

1 reference

12 December 2020

An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype.

1 reference

12 December 2020

Comparative cognitive neuropsychological studies of frontal lobe function: implications for therapeutic strategies in frontal variant frontotemporal dementia.

1 reference

12 December 2020

Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.

1 reference

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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12 December 2020

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

1 reference

12 December 2020

Familial frontotemporal dementia associated with a novel presenilin-1 mutation

1 reference

12 December 2020

Microtubule bundling by tau proteins in vivo: analysis of functional domains

1 reference

12 December 2020

Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia

1 reference

12 December 2020

Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI

1 reference

12 December 2020

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

1 reference

12 December 2020

Functional characterization of novel presenilin-2 variants identified in human breast cancers

1 reference

12 December 2020

Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: Genetic and bioinformatic assessment

1 reference

12 December 2020

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

1 reference

12 December 2020

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

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12 December 2020

Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation

1 reference

12 December 2020

The Mental Deterioration Battery: normative data, diagnostic reliability and qualitative analyses of cognitive impairment. The Group for the Standardization of the Mental Deterioration Battery

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12 December 2020

Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation.

1 reference

12 December 2020

Interaction of tau with the neural plasma membrane mediated by tau's amino-terminal projection domain

1 reference

12 December 2020

A large Calabrian kindred segregating frontotemporal dementia.

1 reference

12 December 2020

Complementary dimerization of microtubule-associated tau protein: Implications for microtubule bundling and tau-mediated pathogenesis

1 reference

12 December 2020

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

1 reference

12 December 2020

Global hairpin folding of tau in solution

1 reference

12 December 2020

Tau is a candidate gene for chromosome 17 frontotemporal dementia

1 reference

12 December 2020

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

1 reference

12 December 2020

Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

1 reference

12 December 2020

Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17

1 reference

12 December 2020

Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene

1 reference

12 December 2020

10.1007/S10072-009-0132-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19768372%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference