List of works - Raffaele Maletta

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

scientific article

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019

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

scientific article

Circulating levels of soluble receptor for advanced glycation end products in Alzheimer disease and vascular dementia.

scientific article

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

scientific article

Investigation of c9orf72 in 4 neurodegenerative disorders

scientific article published on December 2012

Mutation analysis of CHCHD10 in different neurodegenerative diseases

scientific article published on 31 March 2015

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients

scientific article published on 6 June 2014

Behavioral Disorder, Dementia, Ataxia, and Rigidity in a Large Family With TATA Box-Binding Protein Mutation

scientific article published on 01 August 2004

Chromosome 9p21.3 genotype is associated with vascular dementia and Alzheimer's disease

scientific article

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

scientific article published on 20 July 2012

The mitochondrial DNA control region shows genetically correlated levels of heteroplasmy in leukocytes of centenarians and their offspring

scientific article

NGF controls APP cleavage by downregulating APP phosphorylation at Thr668: relevance for Alzheimer's disease.

scientific article published on 13 April 2016

A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia

scientific article

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

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

scientific article published in January 2009

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

scientific article published on 07 March 2007

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

scientific article published on 6 May 2015

Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia

scientific article published on 03 February 2011

Clinical manifestations of highly prevalent corticosteroid-binding globulin mutations in a village in southern Italy

scientific article

Relation of apolipoprotein(a) size to alzheimer's disease and vascular dementia.

scientific article

Contribution of polymorphic variation of inositol hexakisphosphate kinase 3 (IP6K3) gene promoter to the susceptibility to late onset Alzheimer's disease.

scientific article published on 21 June 2016

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

scientific article published on 19 September 2009

Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population

scientific article published in June 2003

First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.

scientific article published on 12 April 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

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

scientific article published in January 2013

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

scientific article published in January 2011

Nicastrin gene in familial and sporadic Alzheimer's disease

scientific article

Apolipoprotein(a) null phenotype is related to a delayed age at onset of Alzheimer's disease.

scientific article published in February 2004

Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia.

scientific article published on 23 January 2017

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

scientific article published on 01 January 2011

Association between small apolipoprotein(a) isoforms and frontotemporal dementia in humans.

scientific article

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Uncoupling protein 4 () gene variability in neurodegenerative disorders: further evidence of association in Frontotemporal dementia

article

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

scientific article published in January 2014

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

scientific article published in January 2018

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P3-193

COVID-19 vaccine uptake among family caregivers of people with dementia: The role of attitudes toward vaccination, perceived social support and personality traits

scientific article published in 2022

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

scientific article published on January 2014

Neurodegenerative clinical records analyzer: detection of recurrent patterns within clinical records towards the identification of typical signs of neurodegenerative disease history

scientific article published on Jlis.it in 2023

List of works by Raffaele Maletta

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

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

Circulating levels of soluble receptor for advanced glycation end products in Alzheimer disease and vascular dementia.

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

Investigation of c9orf72 in 4 neurodegenerative disorders

Mutation analysis of CHCHD10 in different neurodegenerative diseases

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients

Behavioral Disorder, Dementia, Ataxia, and Rigidity in a Large Family With TATA Box-Binding Protein Mutation

Chromosome 9p21.3 genotype is associated with vascular dementia and Alzheimer's disease

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

The mitochondrial DNA control region shows genetically correlated levels of heteroplasmy in leukocytes of centenarians and their offspring

NGF controls APP cleavage by downregulating APP phosphorylation at Thr668: relevance for Alzheimer's disease.

A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia

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

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

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

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

Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia

Clinical manifestations of highly prevalent corticosteroid-binding globulin mutations in a village in southern Italy

Relation of apolipoprotein(a) size to alzheimer's disease and vascular dementia.

Contribution of polymorphic variation of inositol hexakisphosphate kinase 3 (IP6K3) gene promoter to the susceptibility to late onset Alzheimer's disease.

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

Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population

First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.

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.

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

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

Nicastrin gene in familial and sporadic Alzheimer's disease

Apolipoprotein(a) null phenotype is related to a delayed age at onset of Alzheimer's disease.

Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia.

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

Association between small apolipoprotein(a) isoforms and frontotemporal dementia in humans.

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Uncoupling protein 4 () gene variability in neurodegenerative disorders: further evidence of association in Frontotemporal dementia

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

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

P1-319

P3-193

COVID-19 vaccine uptake among family caregivers of people with dementia: The role of attitudes toward vaccination, perceived social support and personality traits

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

Neurodegenerative clinical records analyzer: detection of recurrent patterns within clinical records towards the identification of typical signs of neurodegenerative disease history

P1-303