Lista de obras -

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

artículo científico publicado en 2015

A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia

artículo científico publicado en 2011

Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation

artículo científico publicado en 2013

BAG1 is a Protective Factor for Sporadic Frontotemporal Lobar Degeneration but not for Alzheimer's Disease

scientific article published on 01 January 2011

C9ORF72 hexanucleotide repeat expansion as a rare cause of bipolar disorder

artículo científico publicado en 2013

C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia

artículo científico publicado en 2013

C9ORF72 repeat expansion not detected in patients with multiple sclerosis

artículo científico publicado en 2013

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

scientific article published on 17 September 2020

CCL8/MCP-2 association analysis in patients with Alzheimer's disease and frontotemporal lobar degeneration

artículo científico publicado en 2009

Candidate gene analysis of selectin cluster in patients with multiple sclerosis

artículo científico publicado en 2009

Candidate gene analysis of semaphorins in patients with Alzheimer's disease.

artículo científico publicado en 2009

Cell-dependent kinase inhibitor 2A and 2B genetic variability in patients with Alzheimer's disease.

artículo científico publicado en 2010

Cerebrospinal Fluid Level of Aquaporin4: A New Window on Glymphatic System Involvement in Neurodegenerative Disease?

scientific article published on 01 January 2019

Cerebrospinal fluid biomarkers in Progranulin mutations carriers

artículo científico publicado en 2011

Circulating miRNAs as potential biomarkers in Alzheimer's disease

artículo científico publicado en 2014

Decreased circulating miRNA levels in patients with primary progressive multiple sclerosis.

artículo científico publicado en 2013

Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions

artículo científico publicado en 2014

Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations

artículo científico publicado en 2012

Effect of fingolimod treatment on circulating miR-15b, miR23a and miR-223 levels in patients with multiple sclerosis

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Evidence of CNS β-amyloid deposition in Nasu-Hakola disease due to the TREM2 Q33X mutation.

artículo científico publicado en 2017

Evidence of Pre-Synaptic Dopaminergic Deficit in a Patient with a Novel Progranulin Mutation Presenting with Atypical Parkinsonism†

scientific article published on 01 January 2014

Expression and Genetic Analysis of MicroRNAs Involved in Multiple Sclerosis

artículo científico publicado en 2013

Expression and genetic analysis of miRNAs involved in CD4+ cell activation in patients with multiple sclerosis

artículo científico publicado en 2011

Expression of the transcription factor Sp1 and its regulatory hsa-miR-29b in peripheral blood mononuclear cells from patients with Alzheimer's disease.

artículo científico publicado en 2013

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

artículo científico publicado en 2014

GRN Thr272fs clinical heterogeneity: a case with atypical late onset presenting with a dementia with Lewy bodies phenotype

artículo científico publicado en 2013

GRN variability contributes to sporadic frontotemporal lobar degeneration

artículo científico publicado en 2010

GSK3β genetic variability in patients with Multiple Sclerosis

artículo científico publicado en 2011

Genetics and expression analysis of the specificity protein 4 gene (SP4) in patients with Alzheimer's disease and frontotemporal lobar degeneration

artículo científico publicado en 2012

Incomplete penetrance of the C9ORF72 hexanucleotide repeat expansions: frequency in a cohort of geriatric non-demented subjects

artículo científico publicado en 2014

Innate immune system and inflammation in Alzheimer's disease: from pathogenesis to treatment

artículo científico publicado en 2014

Iron in Frontotemporal Lobar Degeneration: A New Subcortical Pathological Pathway?

artículo científico publicado en 2015

LncRNAs expression profile in peripheral blood mononuclear cells from multiple sclerosis patients

scientific article published on 27 August 2018

MicroRNA and mRNA expression profile screening in multiple sclerosis patients to unravel novel pathogenic steps and identify potential biomarkers

artículo científico publicado en 2011

Monozygotic Twins with Frontotemporal Dementia Due To Thr272fs GRN Mutation Discordant for Age At Onset

artículo científico publicado en 2019

Non Fluent Variant of Primary Progressive Aphasia Due to the Novel GRN g.9543delA(IVS3-2delA) Mutation.

artículo científico publicado en 2016

Novel evidence of phenotypical variability in the hexanucleotide repeat expansion in chromosome 9.

artículo científico

PRNP P39L Variant is a Rare Cause of Frontotemporal Dementia in Italian Population.

artículo científico publicado en 2016

Phenotypic Heterogeneity of the GRN Asp22fs Mutation in a Large Italian Kindred

article

Phenotypic variability associated with the C9ORF72 hexanucleotide repeat expansion: a sporadic case of frontotemporal lobar degeneration with prodromal hyposmia and predominant semantic deficits

artículo científico

Profiling of Specific Gene Expression Pathways in Peripheral Cells from Prodromal Alzheimer's Disease Patients.

artículo científico publicado en 2018

Profiling of ubiquitination pathway genes in peripheral cells from patients with frontotemporal dementia due to C9ORF72 and GRN mutations

artículo científico publicado en 2015

Progranulin gene variability and plasma levels in bipolar disorder and schizophrenia

artículo científico publicado en 2012

Progranulin gene variability influences the risk for bipolar I disorder, but not bipolar II disorder

artículo científico publicado en 2014

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study

artículo científico publicado en 2017

Rapidly progressive primary progressive aphasia and parkinsonism with novel GRN mutation.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Role of OLR1 and its regulating hsa-miR369-3p in Alzheimer's disease: genetics and expression analysis.

artículo científico publicado en 2011

Role of hnRNP-A1 and miR-590-3p in neuronal death: genetics and expression analysis in patients with Alzheimer disease and frontotemporal lobar degeneration.

artículo científico publicado en 2011

Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease

artículo científico publicado en 2009

The novel GRN g.1159_1160delTG mutation is associated with behavioral variant frontotemporal dementia

artículo científico publicado en 2015

Transmembrane protein 106B gene (TMEM106B) variability and influence on progranulin plasma levels in patients with Alzheimer's disease.

artículo científico publicado en 2015

Lista de obras de

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

A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia

Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation

BAG1 is a Protective Factor for Sporadic Frontotemporal Lobar Degeneration but not for Alzheimer's Disease

C9ORF72 hexanucleotide repeat expansion as a rare cause of bipolar disorder

C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia

C9ORF72 repeat expansion not detected in patients with multiple sclerosis

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

CCL8/MCP-2 association analysis in patients with Alzheimer's disease and frontotemporal lobar degeneration

Candidate gene analysis of selectin cluster in patients with multiple sclerosis

Candidate gene analysis of semaphorins in patients with Alzheimer's disease.

Cell-dependent kinase inhibitor 2A and 2B genetic variability in patients with Alzheimer's disease.

Cerebrospinal Fluid Level of Aquaporin4: A New Window on Glymphatic System Involvement in Neurodegenerative Disease?

Cerebrospinal fluid biomarkers in Progranulin mutations carriers

Circulating miRNAs as potential biomarkers in Alzheimer's disease

Decreased circulating miRNA levels in patients with primary progressive multiple sclerosis.

Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions

Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations

Effect of fingolimod treatment on circulating miR-15b, miR23a and miR-223 levels in patients with multiple sclerosis

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

Evidence of CNS β-amyloid deposition in Nasu-Hakola disease due to the TREM2 Q33X mutation.

Evidence of Pre-Synaptic Dopaminergic Deficit in a Patient with a Novel Progranulin Mutation Presenting with Atypical Parkinsonism†

Expression and Genetic Analysis of MicroRNAs Involved in Multiple Sclerosis

Expression and genetic analysis of miRNAs involved in CD4+ cell activation in patients with multiple sclerosis

Expression of the transcription factor Sp1 and its regulatory hsa-miR-29b in peripheral blood mononuclear cells from patients with Alzheimer's disease.

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

GRN Thr272fs clinical heterogeneity: a case with atypical late onset presenting with a dementia with Lewy bodies phenotype

GRN variability contributes to sporadic frontotemporal lobar degeneration

GSK3β genetic variability in patients with Multiple Sclerosis

Genetics and expression analysis of the specificity protein 4 gene (SP4) in patients with Alzheimer's disease and frontotemporal lobar degeneration

Incomplete penetrance of the C9ORF72 hexanucleotide repeat expansions: frequency in a cohort of geriatric non-demented subjects

Innate immune system and inflammation in Alzheimer's disease: from pathogenesis to treatment

Iron in Frontotemporal Lobar Degeneration: A New Subcortical Pathological Pathway?

LncRNAs expression profile in peripheral blood mononuclear cells from multiple sclerosis patients

MicroRNA and mRNA expression profile screening in multiple sclerosis patients to unravel novel pathogenic steps and identify potential biomarkers

Monozygotic Twins with Frontotemporal Dementia Due To Thr272fs GRN Mutation Discordant for Age At Onset

Non Fluent Variant of Primary Progressive Aphasia Due to the Novel GRN g.9543delA(IVS3-2delA) Mutation.

Novel evidence of phenotypical variability in the hexanucleotide repeat expansion in chromosome 9.

PRNP P39L Variant is a Rare Cause of Frontotemporal Dementia in Italian Population.

Phenotypic Heterogeneity of the GRN Asp22fs Mutation in a Large Italian Kindred

Phenotypic variability associated with the C9ORF72 hexanucleotide repeat expansion: a sporadic case of frontotemporal lobar degeneration with prodromal hyposmia and predominant semantic deficits

Profiling of Specific Gene Expression Pathways in Peripheral Cells from Prodromal Alzheimer's Disease Patients.

Profiling of ubiquitination pathway genes in peripheral cells from patients with frontotemporal dementia due to C9ORF72 and GRN mutations

Progranulin gene variability and plasma levels in bipolar disorder and schizophrenia

Progranulin gene variability influences the risk for bipolar I disorder, but not bipolar II disorder

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study

Rapidly progressive primary progressive aphasia and parkinsonism with novel GRN mutation.

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

Role of OLR1 and its regulating hsa-miR369-3p in Alzheimer's disease: genetics and expression analysis.

Role of hnRNP-A1 and miR-590-3p in neuronal death: genetics and expression analysis in patients with Alzheimer disease and frontotemporal lobar degeneration.

Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease

The novel GRN g.1159_1160delTG mutation is associated with behavioral variant frontotemporal dementia

Transmembrane protein 106B gene (TMEM106B) variability and influence on progranulin plasma levels in patients with Alzheimer's disease.