Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia (Q61853785)

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scientific article published on 19 September 2009

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English	Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia	scientific article published on 19 September 2009

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scholarly article

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Europe PubMed Central

PubMed publication ID

19768372

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

retrieved

8 February 2020

title

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

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Europe PubMed Central

PubMed publication ID

19768372

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

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8 February 2020

main subject

sibling

1 reference

based on heuristic

inferred from title

frontotemporal dementia

1 reference

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inferred from title

author

Livia Bernardi

series ordinal

6

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Europe PubMed Central

PubMed publication ID

19768372

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8 February 2020

Rosanna Colao

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10

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Europe PubMed Central

PubMed publication ID

19768372

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8 February 2020

Nicoletta Smirne

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12

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Europe PubMed Central

PubMed publication ID

19768372

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8 February 2020

Amalia Cecilia Bruni

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14

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Amalia Cecilia Bruni

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Europe PubMed Central

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19768372

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8 February 2020

Maria Anfossi

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8

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Maria Anfossi

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PubMed publication ID

19768372

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Gianfranco Puccio

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3

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Gianfranco Puccio

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19768372

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8 February 2020

Raffaele Maletta

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13

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Raffaele G Maletta

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19768372

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8 February 2020

author name string

Maura Gallo

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1

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PubMed publication ID

19768372

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8 February 2020

Carmine Tomaino

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2

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19768372

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8 February 2020

Francesca Frangipane

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4

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19768372

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8 February 2020

Silvana Geracitano

series ordinal

7

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Europe PubMed Central

PubMed publication ID

19768372

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

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8 February 2020

Maria Mirabelli

series ordinal

9

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Europe PubMed Central

PubMed publication ID

19768372

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

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8 February 2020

Franca Vasso

series ordinal

11

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PubMed publication ID

19768372

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

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8 February 2020

Sabrina A M Curcio

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5

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Europe PubMed Central

PubMed publication ID

19768372

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8 February 2020

publication date

19 September 2009

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PubMed publication ID

19768372

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

retrieved

8 February 2020

published in

Neurological Sciences

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Europe PubMed Central

PubMed publication ID

19768372

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

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8 February 2020

volume

31

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PubMed publication ID

19768372

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8 February 2020

issue

1

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PubMed publication ID

19768372

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8 February 2020

page(s)

65-70

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PubMed publication ID

19768372

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8 February 2020

cites work

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

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Tau haplotype frequency in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

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The genetic causes of neurodegenerative diseases

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

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

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

based on heuristic

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

based on heuristic

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Familial frontotemporal dementia associated with a novel presenilin-1 mutation

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

based on heuristic

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

based on heuristic

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

based on heuristic

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A large Calabrian kindred segregating frontotemporal dementia.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Global hairpin folding of tau in solution

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tau is a candidate gene for chromosome 17 frontotemporal dementia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

based on heuristic

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19768372

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12 December 2020

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Identifiers

DOI

10.1007/S10072-009-0132-9

1 reference

stated in

Europe PubMed Central

PubMed publication ID

19768372

reference URL

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

retrieved

8 February 2020

PubMed publication ID

19768372

1 reference

stated in

Europe PubMed Central

PubMed publication ID

19768372

reference URL

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

retrieved

8 February 2020

 

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