List of works - Maria Anfossi

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

Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia

scientific article published on 03 February 2011

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

scientific article published on 20 July 2012

Estimating the inheritance of frontotemporal lobar degeneration in the Italian population

scientific article published on January 2014

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

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

scientific article published on 6 May 2015

Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population

scientific article published in January 2014

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 PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia

scientific article published on 7 March 2008

P1-319

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

scientific article

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

scientific article published on 07 March 2007

Role of Niemann-Pick Type C Disease Mutations in Dementia

scientific article published on 24 October 2016

Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation

scientific article published in January 2013

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 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 Maria Anfossi

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.

Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia

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

Estimating the inheritance of frontotemporal lobar degeneration in the Italian population

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

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

Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population

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 PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia

P1-319

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

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

Role of Niemann-Pick Type C Disease Mutations in Dementia

Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation

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