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Lista de obras de Benedetta Nacmias

5-HT2A receptor gene polymorphism and eating disorders

artículo científico publicado en 2002

5-HT2A receptor gene polymorphisms in anorexia nervosa and bulimia nervosa

article

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

A case of atypical early-onset Alzheimer's disease carrying the missense mutation Thr354Ile in exon 10 of the PSEN1 gene

artículo científico publicado en 2012

A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia

artículo científico publicado en 2002

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 new social-family model for eating disorders: A European multicentre project using a case-control design

artículo científico publicado en 2015

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

artículo científico publicado en 2017

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

artículo científico publicado en 2013

A pilot study evaluating the contribution of SLC19A1 (RFC-1) 80G>a polymorphism to Alzheimer's disease in Italian Caucasians

artículo científico publicado en 2014

A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset.

artículo científico publicado en 2000

A psychosocial risk factor model for female eating disorders: a European multicentre project.

artículo científico publicado en 2014

APOE-epsilon4 is not associated with cognitive impairment in relapsing-remitting multiple sclerosis

artículo científico publicado en 2009

APP717 and Alzheimer's disease in Italy.

artículo científico publicado en 1993

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

artículo científico publicado en 2003

Advances in imaging-genetic relationships for Alzheimer's disease: clinical implications

artículo científico

Age and ApoE genotype interaction in Alzheimer's disease: an FDG-PET study

artículo científico publicado en 2004

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

Alzheimer's Disease Progression: Factors Influencing Cognitive Decline

artículo científico publicado en 2017

Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.

artículo científico publicado en 1996

Alzheimer's disease: role of size and location of white matter changes in determining cognitive deficits.

artículo científico publicado en 2005

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

artículo científico publicado en 2011

Analyses of the role of the glucocorticoid receptor gene polymorphism (rs41423247) as a potential moderator in the association between childhood overweight, psychopathology, and clinical outcomes in Eating Disorders patients: A 6 years follow up stu

artículo científico publicado en 2016

Analysis of apolipoprotein E, α1-antichymotrypsin and presenilin-1 genes polymorphisms in dementia caused by normal pressure hydrocephalus in man

article

Angiotensin converting enzyme insertion/deletion polymorphism in sporadic and familial Alzheimer's disease and longevity

artículo científico publicado en 2006

ApoE allele frequencies in Italian sporadic and familial Alzheimer's disease.

artículo científico publicado en 1994

ApoE as a prognostic factor for post–traumatic coma

artículo científico publicado en 1995

ApoE genotype and familial Alzheimer's disease: a possible influence on age of onset in APP717 Val-->Ile mutated families.

artículo científico publicado en 1995

Apolipoprotein E and ?1-antichymotrypsin polymorphism in Alzheimer's disease

artículo científico publicado en 1996

Apolipoprotein E in sporadic and familial Creutzfeldt-Jakob disease

artículo científico publicado en 1995

ApolipoproteinE epsilon 4 allele is not associated with disease course and severity in multiple sclerosis

artículo científico publicado en 2009

Association Study of Genetic Variants in CDKN2A/CDKN2B Genes/Loci with Late-Onset Alzheimer's Disease

artículo científico publicado en 2011

Association analysis of the paraoxonase-1 gene with Alzheimer's disease

artículo científico publicado en 2006

Association between serotonin transporter gene polymorphism and eating disorders outcome: a 6-year follow-up study

artículo científico publicado en 2012

Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations

artículo científico publicado en 2004

Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations

artículo científico publicado en 2005

Association of IL10 promoter polymorphism in Italian Alzheimer's disease

artículo científico publicado en 2007

Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders

artículo científico publicado en 2008

Association of apolipoprotein E polymorphism to clinical heterogeneity of multiple sclerosis

artículo científico publicado en 2000

Association of the New Variant Tyr424Asp at TBK1 Gene with Amyotrophic Lateral Sclerosis and Cognitive Decline

artículo científico publicado en 2017

Association of the estrogen receptor alpha gene polymorphisms with sporadic Alzheimer's disease.

artículo científico publicado en 1999

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

artículo científico

Associations of individual and family eating patterns during childhood and early adolescence: a multicentre European study of associated eating disorder factors.

artículo científico publicado en 2008

Ataxia-telangiectasia mutated (ATM) genetic variant in Italian centenarians.

artículo científico publicado en 2012

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

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

artículo científico publicado en 2013

Brain metabolic decreases related to the dose of the ApoE e4 allele in Alzheimer's disease

artículo científico publicado en 2004

Brain metabolic differences between sporadic and familial Alzheimer's disease.

artículo científico publicado en 2003

Brain-derived neurotrophic factor genetic variants are not susceptibility factors to Alzheimer's disease in Italy.

artículo científico publicado en 2004

Brain-derived neurotrophic factor, apolipoprotein E genetic variants and cognitive performance in Alzheimer's disease

artículo científico publicado en 2004

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

scientific article published on 17 September 2020

Case???control and combined family trios analysis of three polymorphisms in the ghrelin gene in European patients with anorexia and bulimia nervosa

article

Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease

artículo científico publicado en 2002

Cholesteryl ester transfer protein (CETP) I405V polymorphism and longevity in Italian centenarians

article

Clinical and genetic analysis of an Italian family with Machado-Joseph disease

article

Clinical and genetic analysis of hereditary and sporadic ataxia in central Italy.

artículo científico publicado en 2001

Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis

article

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

artículo científico publicado en 2017

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

artículo científico publicado en 2011

Csf p-tau181/tau ratio as biomarker for TDP pathology in frontotemporal dementia

scholarly article by Barbara Borroni et al published 29 October 2014 in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Cystatin C and apoe polymorphisms in Italian Alzheimer's disease

artículo científico publicado en 2005

DAPK1 is associated with FTD and not with Alzheimer's disease.

artículo científico publicado en 2012

DNMT3B promoter polymorphisms and risk of late onset Alzheimer's disease

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Different implication of NEDD9 genetic variant in early and late-onset Alzheimer's disease

artículo científico publicado en 2010

Donor-Specific Anti-HLA Antibodies in Huntington's Disease Recipients of Human Fetal Striatal Grafts

artículo científico publicado en 2013

EFNS-ENS Guidelines on the diagnosis and management of disorders associated with dementia.

artículo científico publicado en 2012

Early clinical and molecular detection of Alzheimer's disease

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

Epigenetic modifications in Alzheimer's disease: cause or effect?

artículo científico publicado en 2015

Epistatic effect of APP717 mutation and apolipoprotein E genotype in familial Alzheimer's disease ⬇️

artículo científico publicado el 1 de julio de 1995

Erratum: Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease

article

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

artículo científico publicado en 2010

Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations.

artículo científico publicado en 2011

FDG PET and the genetics of dementia

article

Factors of risk and maintenance for eating disorders: psychometric exploration of the cross-cultural questionnaire (CCQ) across five European countries.

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Fat mass and obesity-associated gene (FTO) in eating disorders: evidence for association of the rs9939609 obesity risk allele with bulimia nervosa and anorexia nervosa

artículo científico publicado en 2012

Fat mass and obesity-associated gene (FTO) is associated to eating disorders susceptibility and moderates the expression of psychopathological traits

artículo científico publicado en 2017

Fibroblasts from FAD-linked presenilin 1 mutations display a normal unfolded protein response but overproduce Abeta42 in response to tunicamycin

artículo científico publicado en 2004

Folate, homocysteine, vitamin B12, and polymorphisms of genes participating in one-carbon metabolism in late-onset Alzheimer's disease patients and healthy controls

artículo científico publicado en 2011

Fragile X premutation with atypical symptoms at onset

artículo científico publicado en 2006

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

artículo científico publicado en 2014

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Genetic Heterogeneity of Alzheimer's Disease: Embracing Research Partnerships

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

Genetics of Alzheimer's Disease and Frontotemporal Dementia.

artículo científico publicado en 2014

Genetics of vascular dementia - review from the ICVD working group

artículo científico publicado en 2017

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

scholarly article

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

artículo científico publicado en 2019

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

artículo científico publicado en 2009

Glucocorticoid receptor gene polymorphisms in Italian patients with eating disorders and obesity

article

Heterozygous TREM2 mutations in frontotemporal dementia

artículo científico

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

artículo científico publicado en 2014

Identification of new presenilin gene mutations in early-onset familial Alzheimer disease

artículo científico publicado en 2003

Imaging and cognitive reserve studies predict dementia in presymptomatic Alzheimer's disease subjects

artículo científico publicado en 2013

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

Immunoproteasome and LMP2 polymorphism in aged and Alzheimer's disease brains

artículo científico publicado en 2006

Implication of GAB2 gene polymorphism in Italian patients with Alzheimer's disease

artículo científico publicado en 2009

Implication of a Genetic Variant at PICALM in Alzheimer's Disease Patients and Centenarians

artículo científico publicado en 2011

Implication of serotonin-transporter (5-HTT) gene polymorphism in subjective memory complaints and mild cognitive impairment (MCI).

artículo científico publicado en 2011

Implication of sex and SORL1 variants in italian patients with Alzheimer disease

artículo científico publicado en 2009

Implication of α1-antichymotrypsin polymorphism in familial Alzheimer's disease

scientific article published on 01 March 1998

Increased susceptibility to amyloid toxicity in familial Alzheimer's fibroblasts

artículo científico publicado en 2006

Influence of apolipoprotein E epsilon4 genotype on brain tissue integrity in relapsing-remitting multiple sclerosis

artículo científico publicado en 2004

Insulin degrading enzyme and alpha-3 catenin polymorphisms in Italian patients with Alzheimer disease

artículo científico publicado en 2005

Isolation of two cDNA clones from tomato containing two different superoxide dismutase sequences

artículo científico publicado en 1988

Italian Frontotemporal Dementia Network (FTD Group-SINDEM): sharing clinical and diagnostic procedures in Frontotemporal Dementia in Italy.

artículo científico publicado en 2014

KIBRA gene variants are associated with episodic memory performance in subjective memory complaints

article

Lack of association between TNF-alpha polymorphisms and Alzheimer's disease in an Italian cohort

artículo científico publicado en 2008

Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease

artículo científico publicado en 2005

Lack of implication for CALHM1 P86L common variation in Italian patients with early and late onset Alzheimer's disease

artículo científico publicado en 2010

Lipid rafts are primary mediators of amyloid oxidative attack on plasma membrane

artículo científico publicado en 2010

Lipid rafts mediate amyloid-induced calcium dyshomeostasis and oxidative stress in Alzheimer's disease

artículo científico publicado en 2013

Low Florbetapir PET Uptake and Normal Aβ1-42 Cerebrospinal Fluid in an APP Ala713Thr Mutation Carrier

artículo científico publicado en 2017

Low social interactions in eating disorder patients in childhood and adulthood: a multi-centre European case control study.

artículo científico publicado en 2012

MCI conversion to dementia and the APOE genotype: a prediction study with FDG-PET.

artículo científico publicado en 2004

Membrane cholesterol enrichment prevents Aβ-induced oxidative stress in Alzheimer's fibroblasts

artículo científico publicado en 2009

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

artículo científico publicado en 2013

Meta-analysis of the association between variants in SORL1 and Alzheimer disease

artículo científico publicado en 2011

Misserise mutation of S182 gene in Italian families with early-onset Alzheimer's disease

artículo científico publicado en 1995

Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease

article

Monomeric ß-amyloid interacts with type-1 insulin-like growth factor receptors to provide energy supply to neurons

artículo científico publicado en 2015

Mutation analysis of CHCHD10 in different neurodegenerative diseases

artículo científico publicado en 2015

Mutation analysis of patients with neurodegenerative disorders using NeuroX array

artículo científico publicado en 2014

No association between the LRRK2 G2019S mutation and Alzheimer's disease in Italy

artículo científico publicado en 2007

No implication of apolipoprotein E polymorphism in Italian schizophrenic patients.

artículo científico publicado en 1998

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

article

Novel S-acyl glutathione derivatives prevent amyloid oxidative stress and cholinergic dysfunction in Alzheimer disease models

artículo científico publicado en 2012

Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease

artículo científico publicado en 2015

Oxidative stress and reduced antioxidant defenses in peripheral cells from familial Alzheimer's patients

artículo científico publicado en 2002

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

artículo científico publicado en 2016

Pattern and progression of cognitive decline in Alzheimer's disease: role of premorbid intelligence and ApoE genotype

artículo científico publicado en 2007

Plasma membrane injury depends on bilayer lipid composition in Alzheimer's disease

artículo científico publicado en 2014

Position paper of the Italian Society for the study of Dementias (SINDEM) on the proposal of a new lexicon on Alzheimer disease

artículo científico publicado en 2011

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

artículo científico publicado en 2018

Present and lifetime comorbidity of tobacco, alcohol and drug use in eating disorders: a European multicenter study.

artículo científico publicado en 2008

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

artículo científico publicado en 2015

Progranulin Genetic Screening in Frontotemporal Lobar Degeneration Patients From Central Italy

article

Protective effect of new S-acylglutathione derivatives against amyloid-induced oxidative stress

artículo científico publicado en 2008

Psychopathological traits and 5-HT2A receptor promoter polymorphism (-1438 G/A) in patients suffering from Anorexia Nervosa and Bulimia Nervosa

artículo científico publicado en 2004

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease

artículo científico publicado en 2010

SIRT1 accelerates the progression of activity-based anorexia

scientific article published on 04 June 2020

SNPs in neurotrophin system genes and Alzheimer's disease in an Italian population

artículo científico publicado en 2008

Semantic dementia associated with mutation V363I in the tau gene

artículo científico publicado en 2010

Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer's disease: New data and meta-analysis

artículo científico publicado en 2010

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

artículo científico publicado en 2020

Specific Silencing of L392V PSEN1 Mutant Allele by RNA Interference

artículo científico publicado en 2011

Suitability of neuropsychological tests in patients with vascular dementia (VaD).

artículo científico publicado en 2012

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

scientific article published on 23 December 2016

TOMM40 polymorphisms in Italian Alzheimer's disease and frontotemporal dementia patients

artículo científico publicado en 2013

Testing for linkage and association across the dihydrolipoyl dehydrogenase gene region with Alzheimer's disease in three sample populations

artículo científico publicado en 2007

The C677T methylenetetrahydrofolate reductase mutation is not associated with Alzheimer's disease.

artículo científico publicado en 2001

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

artículo científico publicado en 2015

The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study

artículo científico publicado en 2010

The Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Late-Onset Alzheimer's disease: Further Evidence in an Italian Multicenter Study

artículo científico publicado en 2017

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

artículo científico publicado en 2012

The diagnosis of dementias: a practical tool not to miss rare causes

artículo científico publicado en 2017

The different apoptotic potential of the p53 codon 72 alleles increases with age and modulates in vivo ischaemia-induced cell death.

artículo científico publicado en 2004

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

artículo científico publicado en 2017

The urokinase-plasminogen activator (PLAU) gene is not associated with late onset Alzheimer's disease

artículo científico publicado en 2004

The urokinase-plasminogen activator (PLAU) gene is not associated with late onset Alzheimer’s disease

article

Tumor Necrosis Factor α Influences Phenotypic Plasticity and Promotes Epigenetic Changes in Human Basal Forebrain Cholinergic Neuroblasts

scientific article published on 25 August 2020

Uncommon Dementias

α2-Macroglobulin polymorphisms in Italian sporadic and familial Alzheimer's disease

article

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