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List of works by Luisa Benussi

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

scientific article published on 30 March 2016

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

scientific article

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

scientific article

A novel deletion in progranulin gene is associated with FTDP-17 and CBS.

scientific article published on 6 December 2006

A novel network analysis approach reveals DNA damage, oxidative stress and calcium/cAMP homeostasis-associated biomarkers in frontotemporal dementia

scientific article published on 11 October 2017

A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression.

scientific article published in January 2011

A window into the heterogeneity of human cerebrospinal fluid Aβ peptides

scientific article

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

scientific article published on 03 December 2019

Altered Expression of Circulating Cdc42 in Frontotemporal Lobar Degeneration.

scientific article published in January 2018

Alzheimer disease-associated cystatin C variant undergoes impaired secretion

scientific article

An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease

scientific article published in January 2011

Analysis of alpha-2-macroglobulin-2 allele as a risk factor in Alzheimer's disease.

scientific article published in September 2001

Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target.

scientific article published on 27 July 2017

Apolipoprotein E and alpha brain rhythms in mild cognitive impairment: a multicentric electroencephalogram study.

scientific article published on February 2006

Areas of intervention for genetic counselling of dementia: cross-cultural comparison between Italians and Americans

scientific article published on 21 July 2006

Association of blood pressure and genetic background with white matter lesions in patients with mild cognitive impairment.

scientific article published in May 2008

Atypical dementia associated with a novel presenilin-2 mutation

scientific article published on December 2003

BACE-2 is overexpressed in Down's syndrome.

scientific article published in August 2003

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

scientific article published on 01 January 2011

Biological factors and age-dependence of primary motor cortex experimental plasticity

scientific article published on 7 October 2015

Blockade of the tumor necrosis factor-related apoptosis inducing ligand death receptor DR5 prevents beta-amyloid neurotoxicity.

scientific article published on 16 August 2006

C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: A Genotype-Phenotype Correlation Study

scientific article published on 01 January 2015

C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study

scientific article published in January 2014

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

scientific article published on 11 September 2013

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

scientific article (publication date: August 2009)

Cerebrospinal fluid biomarkers for Alzheimer's disease: the present and the future.

scientific article published on 25 June 2011

Cerebrospinal fluid biomarkers in Progranulin mutations carriers

scientific article published in January 2011

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

scientific article

Combined mass quantitation and phenotyping of intact extracellular vesicles by a microarray platform

scientific article published on 26 October 2015

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

scientific article published on 25 October 2017

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

scientific article published on 7 June 2021

Conformational targeting of intracellular Aβ oligomers demonstrates their pathological oligomerization inside the endoplasmic reticulum.

scientific article

Copper dyshomeostasis in Wilson disease and Alzheimer's disease as shown by serum and urine copper indicators.

scientific article published on 8 November 2017

Cystatin C is released in association with exosomes: a new tool of neuronal communication which is unbalanced in Alzheimer's disease.

scientific article

DCUN1D1 is a risk factor for frontotemporal lobar degeneration.

scientific article

Decreased plasma levels of soluble receptor for advanced glycation end products in mild cognitive impairment.

scientific article published on 28 May 2008

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

scientific article published on 27 April 2017

Depletion of Progranulin Reduces GluN2B-Containing NMDA Receptor Density, Tau Phosphorylation, and Dendritic Arborization in Mouse Primary Cortical Neurons

scientific article published on 12 September 2017

Detection of the presenilin 1 COOH-terminal fragment in the extracellular compartment: a release enhanced by apoptosis

scientific journal article

Digital Detection of Exosomes by Interferometric Imaging

scientific article

Distinct cerebrospinal fluid amyloid-beta peptide signatures in cognitive decline associated with Alzheimer's disease and schizophrenia.

scientific article

Effect of energy shortage and oxidative stress on amyloid precursor protein metabolism in COS cells.

scientific article published on August 1997

Effect of the XbaI polymorphism of estrogen receptor alpha on postmenopausal gray matter

scientific article published on 13 February 2008

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

scientific article published on 23 January 2017

Effects of donepezil, galantamine and rivastigmine in 938 Italian patients with Alzheimer's disease: a prospective, observational study

scientific article published in February 2010

Effects of estrogens on cognition and brain morphology: involvement of the cerebellum.

scientific article published on 15 December 2005

Effects of hormone therapy on brain morphology of healthy postmenopausal women: a Voxel-based morphometry study.

scientific article published in July 2006

Energy metabolism inhibition impairs amyloid precursor protein secretion from Alzheimer's fibroblasts.

scientific article published in March 1999

Estimating the age of the most common Italian GRN mutation: walking back to Canossa times

scientific article published in January 2013

Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease

scientific article

Exosomes: the Trojan horses of neurodegeneration.

scientific article published on 15 January 2008

Expression of A2V-mutated Aβ in Caenorhabditis elegans results in oligomer formation and toxicity

scientific article

Extracellular vesicles in Alzheimer's disease: friends or foes? Focus on aβ-vesicle interaction

scientific article

FUS/TLS Genetic Variability in Sporadic Frontotemporal Lobar Degeneration

scientific article published on 01 January 2010

Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients

scientific article

Free copper distinguishes mild cognitive impairment subjects from healthy elderly individuals

scientific article published in January 2011

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

scientific article

GRN variability contributes to sporadic frontotemporal lobar degeneration

scientific article

Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.

scientific article

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

scientific article published on 19 February 2015

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

scientific article published in January 2012

Genotype (cystatin C) and EEG phenotype in Alzheimer disease and mild cognitive impairment: a multicentric study

scientific article published on 6 October 2005

H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers.

scientific article

HOXA1 A218G polymorphism is associated with smaller cerebellar volume in healthy humans.

scientific article published in October 2009

Homocysteine and electroencephalographic rhythms in Alzheimer disease: a multicentric study.

scientific article published on 22 February 2007

Implications of metal exposure and liver function in Parkinsonian patients resident in the vicinities of ferroalloy plants

scientific article published on 14 August 2009

Inhibition of energy metabolism down-regulates the Alzheimer related presenilin 2 gene.

scientific article published in September 2003

Innovative Biomarkers for Alzheimer's Disease: Focus on the Hidden Disease Biomarkers

scientific article published on 28 February 2018

Interaction between tau and alpha-synuclein proteins is impaired in the presence of P301L tau mutation.

scientific article

Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?

scientific article

JNK plays a key role in tau hyperphosphorylation in Alzheimer's disease models.

scientific article published in January 2011

Losing protein in the brain: the case of progranulin.

scientific article published on 04 February 2012

Loss of Neuroprotective Factors in Neurodegenerative Dementias: The End or the Starting Point?

scientific article published in December 2017

Loss of exosomes in progranulin-associated frontotemporal dementia

scientific article published on 7 January 2016

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration.

scientific article published on 3 September 2008

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

scientific article

Mapping the effect of APOE epsilon4 on gray matter loss in Alzheimer's disease in vivo

scientific article published on 21 January 2009

Markers of Alzheimer's disease in a population attending a memory clinic.

scientific article published in July 2009

Microglia convert aggregated amyloid-β into neurotoxic forms through the shedding of microvesicles.

scientific article published on 13 December 2013

Mirror Image of the Amyloid-β Species in Cerebrospinal Fluid and Cerebral Amyloid in Alzheimer's Disease

scientific article published in August 2015

Molecular Pathways Bridging Frontotemporal Lobar Degeneration and Psychiatric Disorders

scientific article

Molecular subtypes of Alzheimer's disease.

scientific article published on 19 February 2018

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

scientific article published on July 2016

Neuroprotection mediated by cystatin C-loaded extracellular vesicles

scientific article published on 31 July 2019

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

scientific article published in April 2022

Novel T719P AbetaPP mutation unbalances the relative proportion of amyloid-beta peptides.

scientific article published in January 2009

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

scientific article published on 26 November 2011

Optimization protocol for amyloid-β peptides detection in human cerebrospinal fluid using SELDI TOF MS.

scientific article

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

scientific article published on 6 January 2016

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 26 November 2020

Pattern of structural and functional brain abnormalities in asymptomatic granulin mutation carriers.

scientific article published on 10 January 2014

Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors.

scientific article published on 29 January 2013

Plasma cystatin C and risk of developing Alzheimer's disease in subjects with mild cognitive impairment.

scientific article published in January 2010

Positive Selection of Apoptosis-resistant Cells Correlates with Activation of Dominant-Negative STAT5 ⬇️

scientific article published on August 14, 1998

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

Predictors of comprehensive stimulation program efficacy in patients with cognitive impairment. Clinical practice recommendations.

scientific article published on 15 February 2012

Presenilin 1 protein directly interacts with Bcl-2

scientific article (publication date: 22 October 1999)

Presenilin 2 is secreted in mouse primary neurons: a release enhanced by apoptosis.

scientific article published in February 2007

Presenilin 2 mutations alter cystatin C trafficking in mouse primary neurons.

scientific article published on 20 March 2006

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

scientific article published on 4 February 2015

Prevalence of TAU mutations in an Italian clinical series of familial frontotemporal patients

article

Prevalence of pathogenic mutations in an Italian clinical series of patients with familial dementia.

scientific article published in August 2004

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.

scientific article published on 6 December 2008

Progranulin Mutations Affects Brain Oscillatory Activity in Fronto-Temporal Dementia.

scientific article

Progranulin Mutations are a Common Cause of FTLD in Northern Italy ⬇️

scientific article published on July 1, 2010

Publisher Correction: Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target.

scientific article published on 5 January 2018

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

scientific article published on 28 September 2015

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia

scientific article published on 17 February 2018

Regional atrophy of transcallosal prefrontal connections in cognitively normal APOE epsilon4 carriers.

scientific article

Replication study to confirm the role of CYP2D6 polymorphism rs1080985 on donepezil efficacy in Alzheimer's disease patients.

scientific article published in January 2012

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

scientific article published in January 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.

scientific article published on 6 May 2011

Secretory leukocyte protease inhibitor protein regulates the penetrance of frontotemporal lobar degeneration in progranulin mutation carriers.

scientific article

Serum C-Peptide, Visfatin, Resistin, and Ghrelin are Altered in Sporadic and GRN-Associated Frontotemporal Lobar Degeneration

scientific article published in December 2017

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016

TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia

scientific article published on July 2013

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.

scientific article

Tau Mutations Serve as a Novel Risk Factor for Cancer

scientific article published on 24 May 2018

Tau Rather than TDP-43 Proteins are Potential Cerebrospinal Fluid Biomarkers for Frontotemporal Lobar Degeneration Subtypes: A Pilot Study.

scientific article published on 23 September 2016

Tau missing from CSF: a case report.

scientific article published in January 2007

The CST3 B haplotype is associated with frontotemporal lobar degeneration.

scientific article published on 5 August 2009

The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairment.

scientific article published in January 2010

The H2 MAPT haplotype is associated with familial frontotemporal dementia.

scientific article published on 10 January 2006

The Heritability of Frontotemporal Lobar Degeneration: Validation of Pedigree Classification Criteria in a Northern Italy Cohort.

scientific article published on 8 December 2017

The Missing Heritability of Sporadic Frontotemporal Dementia: New Insights from Rare Variants in Neurodegenerative Candidate Genes

scientific article published on 10 August 2019

The SIRT2 polymorphism rs10410544 and risk of Alzheimer's disease in two Caucasian case-control cohorts.

scientific article published on 30 May 2012

The level of 24-Hydroxycholesteryl Esters is an Early Marker of Alzheimer's Disease.

scientific article published on 9 December 2016

Translational proteomics in Alzheimer's disease and related disorders ⬇️

scientific article published on October 23, 2012

Value of serum nonceruloplasmin copper for prediction of mild cognitive impairment conversion to Alzheimer disease.

scientific article

Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I

scientific article published on 01 May 2000

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