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

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8 February 2020

title

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

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frontotemporal dementia

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6

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Rosanna Colao

10

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Nicoletta Smirne

12

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14

Amalia Cecilia Bruni

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8

Maria Anfossi

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3

Gianfranco Puccio

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13

Raffaele G Maletta

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author name string

Maura Gallo

1

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Carmine Tomaino

2

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Francesca Frangipane

4

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Silvana Geracitano

7

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Maria Mirabelli

9

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Franca Vasso

11

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Sabrina A M Curcio

5

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publication date

19 September 2009

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8 February 2020

published in

Neurological Sciences

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volume

31

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issue

1

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page(s)

65-70

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

8 February 2020

exact match

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

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

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

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

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

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Tau is a candidate gene for chromosome 17 frontotemporal dementia

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Mutations in progranulin explain atypical phenotypes with variants in MAPT.

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Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

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Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17

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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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10.1007/S10072-009-0132-9

Identifiers

DOI

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8 February 2020

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