List of works - Nicoletta Smirne

A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.

scientific article published in January 2011

AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions.

scientific article published in January 2009

Angela R.: a familial Alzheimer's disease case in the days of Auguste D.

scientific article

Association of the variant Cys139Arg at GRN gene to the clinical spectrum of frontotemporal lobar degeneration.

scientific article published on January 2014

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

scientific article published on 17 September 2020

Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.

scientific article published on 20 July 2012

Frequency of Cardiovascular Genetic Risk Factors in a Calabrian Population and Their Effects on Dementia.

scientific article published in January 2018

Frontotemporal dementia and its subtypes: a genome-wide association study

scientific article

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

article

Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family

scientific article published on 6 May 2015

Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.

scientific article

MAPT V363I variation in a sporadic case of frontotemporal dementia: variable penetrant mutation or rare polymorphism?

scientific article published on 01 January 2011

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

scientific article published on 19 September 2009

Novel N-terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome

scientific article published on 14 June 2014

PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype

scientific article published on 01 January 2011

Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease

scientific article published on 07 March 2007

Prevalence of Delirium in a Population of Elderly Outpatients with Dementia: A Retrospective Study

scientific article published on 20 November 2017

Role of Niemann-Pick Type C Disease Mutations in Dementia

scientific article published on 24 October 2016

Short-Term Response is not Predictive of Long-Term Response to Acetylcholinesterase Inhibitors in Old Age Subjects with Alzheimer's Disease: A "Real World" Study

scientific article published on 29 November 2016

The Genetic Variability of UCP4 Affects the Individual Susceptibility to Late-Onset Alzheimer's Disease and Modifies the Disease's Risk in APOE-ɛ4 Carriers.

scientific article

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

article

The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.

scientific article published on 27 April 2017

List of works by Nicoletta Smirne

A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.

AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions.

Angela R.: a familial Alzheimer's disease case in the days of Auguste D.

Association of the variant Cys139Arg at GRN gene to the clinical spectrum of frontotemporal lobar degeneration.

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.

Frequency of Cardiovascular Genetic Risk Factors in a Calabrian Population and Their Effects on Dementia.

Frontotemporal dementia and its subtypes: a genome-wide association study

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

Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family

Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.

MAPT V363I variation in a sporadic case of frontotemporal dementia: variable penetrant mutation or rare polymorphism?

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

Novel N-terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome

PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype

Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease

Prevalence of Delirium in a Population of Elderly Outpatients with Dementia: A Retrospective Study

Role of Niemann-Pick Type C Disease Mutations in Dementia

Short-Term Response is not Predictive of Long-Term Response to Acetylcholinesterase Inhibitors in Old Age Subjects with Alzheimer's Disease: A "Real World" Study

The Genetic Variability of UCP4 Affects the Individual Susceptibility to Late-Onset Alzheimer's Disease and Modifies the Disease's Risk in APOE-ɛ4 Carriers.

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

The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.