Lista de obras -

A functional variant in ERAP1 predisposes to multiple sclerosis

artículo científico publicado en 2012

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

artículo científico publicado en 2011

A second major histocompatibility complex susceptibility locus for multiple sclerosis

artículo científico publicado en 2007

APOE ε2 and ε4 influence the susceptibility for Alzheimer's disease but not other dementias

artículo científico publicado en 2010

Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration

artículo científico publicado en 2006

Amyloid PET as a marker of normal-appearing white matter early damage in multiple sclerosis: correlation with CSF β-amyloid levels and brain volumes

article

An emerging role for long non-coding RNA dysregulation in neurological disorders

artículo científico publicado en 2013

Association of a NOS1 promoter repeat with Alzheimer's disease

artículo científico publicado en 2007

Association of neuronal nitric oxide synthase C276T polymorphism with Alzheimer's disease.

artículo científico publicado en 2005

Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy

artículo científico publicado en 2008

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

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

artículo científico publicado en 2009

CCR2-64I polymorphism and CCR5Delta32 deletion in patients with Alzheimer's disease

artículo científico publicado en 2004

CHRNA7 Gene and Response to Cholinesterase Inhibitors in an Italian Cohort of Alzheimer's Disease Patients.

artículo científico publicado en 2016

CSF β-amyloid and white matter damage: a new perspective on Alzheimer's disease

artículo científico publicado en 2017

CSF β-amyloid as a putative biomarker of disease progression in multiple sclerosis

artículo científico publicado en 2016

CSF β-amyloid predicts prognosis in patients with multiple sclerosis

artículo científico publicado en 2018

Candidate gene analysis of IP-10 gene in patients with Alzheimer's disease

article

Candidate gene analysis of SPARCL1 gene in patients with multiple sclerosis

artículo científico publicado en 2007

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

Cerebrospinal fluid progranulin levels in patients with different multiple sclerosis subtypes

artículo científico publicado en 2009

Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status

artículo científico publicado en 2016

Circulating miRNAs as potential biomarkers in Alzheimer's disease

artículo científico publicado en 2014

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

artículo científico publicado en 2021

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

Distinct patterns of brain atrophy in Genetic Frontotemporal Dementia Initiative (GENFI) cohort revealed by visual rating scales.

artículo científico publicado en 2018

E-selectin A561C and G98T polymorphisms influence susceptibility and course of multiple sclerosis

artículo científico publicado en 2005

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

Epigenetic modulation of BDNF gene: differences in DNA methylation between unipolar and bipolar patients

artículo científico publicado en 2014

Epigenetic regulatory modifications in genetic and sporadic frontotemporal dementia

scientific article published on 05 June 2018

Erratum to: Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay

artículo científico publicado en 2016

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

FUS/TLS Genetic Variability in Sporadic Frontotemporal Lobar Degeneration

scientific article published on 01 January 2010

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

Gender-specific influence of the chromosome 16 chemokine gene cluster on the susceptibility to Multiple Sclerosis

artículo científico publicado en 2007

Gene promoter methylation and expression of Pin1 differ between patients with frontotemporal dementia and Alzheimer's disease.

artículo científico publicado en 2016

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

Growth Arrest Specific 6 Concentration is Increased in the Cerebrospinal Fluid of Patients with Alzheimer's Disease.

artículo científico publicado en 2017

Heterozygous TREM2 mutations in frontotemporal dementia

artículo científico

ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution

article

Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay

artículo científico publicado en 2015

Identification of soluble TREM-2 in the cerebrospinal fluid and its association with multiple sclerosis and CNS inflammation

artículo científico publicado en 2008

Immunoproteasome LMP2 60HH variant alters MBP epitope generation and reduces the risk to develop multiple sclerosis in Italian female population

artículo científico publicado en 2010

Improved Cerebrospinal Fluid-Based Discrimination between Alzheimer's Disease Patients and Controls after Correction for Ventricular Volumes

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Inflammation in neurodegenerative disorders: friend or foe?

artículo científico publicado en 2008

Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients

artículo científico publicado en 2005

Intrathecal chemokine synthesis in mild cognitive impairment and Alzheimer disease

artículo científico publicado en 2006

Intrathecal levels of IL-6, IL-11 and LIF in Alzheimer's disease and frontotemporal lobar degeneration

artículo científico publicado en 2008

Is HCRTR2 a genetic risk factor for Alzheimer's disease?

artículo científico publicado en 2014

Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?

artículo científico publicado en 2010

Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis

artículo científico publicado en 2005

Lag-time in Alzheimer’s disease patients: a potential plasmatic oxidative stress marker associated with ApoE4 isoform

artículo científico publicado en 2019

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

scientific article published on 27 August 2018

MCP-1 A-2518G polymorphism: effect on susceptibility for frontotemporal lobar degeneration and on cerebrospinal fluid MCP-1 levels

artículo científico publicado en 2009

MCP-1 in Alzheimer's disease patients: A-2518G polymorphism and serum levels.

artículo científico publicado en 2004

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

artículo científico publicado en 2011

MicroRNAs as active players in the pathogenesis of multiple sclerosis

artículo científico

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

artículo científico publicado en 2019

Multiple sclerosis: BAFF and CXCL13 in cerebrospinal fluid

artículo científico publicado en 2011

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

scientific article published on July 2016

New insights into the genetic etiology of Alzheimer's disease and related dementias

artículo científico publicado en 2022

No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis

scientific article published on 16 April 2014

No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort

artículo científico publicado en 2009

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

Novel missense progranulin gene mutation associated with the semantic variant of primary progressive aphasia

artículo científico publicado en 2013

Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases: a multicenter Italian study

artículo científico publicado en 2011

Osteopontin is increased in the cerebrospinal fluid of patients with Alzheimer's disease and its levels correlate with cognitive decline.

artículo científico publicado en 2010

Oxidative imbalance in patients with mild cognitive impairment and Alzheimer's disease

artículo científico publicado en 2005

P-selectin glycoprotein ligand-1 variable number of tandem repeats (VNTR) polymorphism in patients with multiple sclerosis

artículo científico publicado en 2005

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

Plasma Screening for Progranulin Mutations in Patients with Progressive Supranuclear Palsy and Corticobasal Syndromes

artículo científico publicado en 2016

Polymorphisms in the LOC387715/ARMS2 putative gene and the risk for Alzheimer's disease.

artículo científico publicado en 2008

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 as a therapeutic target for dementia

scientific article published on 22 June 2018

Progranulin gene (GRN) promoter methylation is increased in patients with sporadic frontotemporal lobar degeneration

artículo científico publicado en 2012

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 genetic polymorphisms influence progression of disability and relapse recovery in multiple sclerosis

artículo científico publicado en 2015

Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease

artículo científico publicado en 2009

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

Recognition of viral and self-antigens by TH1 and TH1/TH17 central memory cells in patients with multiple sclerosis reveals distinct roles in immune surveillance and relapses

artículo científico publicado en 2017

Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.

artículo científico publicado en 2018

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

SELPLG and SELP single-nucleotide polymorphisms in multiple sclerosis

scientific article published on 27 October 2005

SORL1 Gene is Associated with the Conversion from Mild Cognitive Impairment to Alzheimer's Disease

artículo científico publicado en 2015

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

artículo científico publicado en 2012

Selective DNA methylation of BDNF promoter in bipolar disorder: differences among patients with BDI and BDII.

artículo científico publicado en 2012

Serum MCP-1 levels are increased in mild cognitive impairment and mild Alzheimer's disease

artículo científico publicado en 2005

Testing the 2018 NIA-AA research framework in a retrospective large cohort of patients with cognitive impairment: from biological biomarkers to clinical syndromes

artículo científico publicado en 2019

The Progranulin (GRN) Cys157LysfsX97 Mutation is Associated with Nonfluent Variant of Primary Progressive Aphasia Clinical Phenotype

The T-786C NOS3 polymorphism in Alzheimer's disease: association and influence on gene expression.

artículo científico publicado en 2005

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

Usefulness of Multi-Parametric MRI for the Investigation of Posterior Cortical Atrophy

artículo científico publicado en 2015

Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition

artículo científico publicado en 2008

Vascular endothelial growth factor gene variability is associated with increased risk for AD.

artículo científico publicado en 2005

Word and Picture Version of the Free and Cued Selective Reminding Test (FCSRT): Is There Any Difference?

artículo científico publicado en 2017

Lista de obras de

A functional variant in ERAP1 predisposes to multiple sclerosis

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

A second major histocompatibility complex susceptibility locus for multiple sclerosis

APOE ε2 and ε4 influence the susceptibility for Alzheimer's disease but not other dementias

Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration

Amyloid PET as a marker of normal-appearing white matter early damage in multiple sclerosis: correlation with CSF β-amyloid levels and brain volumes

An emerging role for long non-coding RNA dysregulation in neurological disorders

Association of a NOS1 promoter repeat with Alzheimer's disease

Association of neuronal nitric oxide synthase C276T polymorphism with Alzheimer's disease.

Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy

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

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

CCR2-64I polymorphism and CCR5Delta32 deletion in patients with Alzheimer's disease

CHRNA7 Gene and Response to Cholinesterase Inhibitors in an Italian Cohort of Alzheimer's Disease Patients.

CSF β-amyloid and white matter damage: a new perspective on Alzheimer's disease

CSF β-amyloid as a putative biomarker of disease progression in multiple sclerosis

CSF β-amyloid predicts prognosis in patients with multiple sclerosis

Candidate gene analysis of IP-10 gene in patients with Alzheimer's disease

Candidate gene analysis of SPARCL1 gene in patients with multiple sclerosis

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

Cerebrospinal fluid progranulin levels in patients with different multiple sclerosis subtypes

Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status

Circulating miRNAs as potential biomarkers in Alzheimer's disease

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

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

Distinct patterns of brain atrophy in Genetic Frontotemporal Dementia Initiative (GENFI) cohort revealed by visual rating scales.

E-selectin A561C and G98T polymorphisms influence susceptibility and course of multiple sclerosis

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

Epigenetic modulation of BDNF gene: differences in DNA methylation between unipolar and bipolar patients

Epigenetic regulatory modifications in genetic and sporadic frontotemporal dementia

Erratum to: Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay

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.

FUS/TLS Genetic Variability in Sporadic Frontotemporal Lobar Degeneration

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

Gender-specific influence of the chromosome 16 chemokine gene cluster on the susceptibility to Multiple Sclerosis

Gene promoter methylation and expression of Pin1 differ between patients with frontotemporal dementia and Alzheimer's disease.

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

Growth Arrest Specific 6 Concentration is Increased in the Cerebrospinal Fluid of Patients with Alzheimer's Disease.

Heterozygous TREM2 mutations in frontotemporal dementia

ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution

Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay

Identification of soluble TREM-2 in the cerebrospinal fluid and its association with multiple sclerosis and CNS inflammation

Immunoproteasome LMP2 60HH variant alters MBP epitope generation and reduces the risk to develop multiple sclerosis in Italian female population

Improved Cerebrospinal Fluid-Based Discrimination between Alzheimer's Disease Patients and Controls after Correction for Ventricular Volumes

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

Inflammation in neurodegenerative disorders: friend or foe?

Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients

Intrathecal chemokine synthesis in mild cognitive impairment and Alzheimer disease

Intrathecal levels of IL-6, IL-11 and LIF in Alzheimer's disease and frontotemporal lobar degeneration

Is HCRTR2 a genetic risk factor for Alzheimer's disease?

Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?

Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis

Lag-time in Alzheimer’s disease patients: a potential plasmatic oxidative stress marker associated with ApoE4 isoform

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

MCP-1 A-2518G polymorphism: effect on susceptibility for frontotemporal lobar degeneration and on cerebrospinal fluid MCP-1 levels

MCP-1 in Alzheimer's disease patients: A-2518G polymorphism and serum levels.

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

MicroRNAs as active players in the pathogenesis of multiple sclerosis

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

Multiple sclerosis: BAFF and CXCL13 in cerebrospinal fluid

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

New insights into the genetic etiology of Alzheimer's disease and related dementias