B. Nacmias

S. Sorbi, B. Nacmias, L. M. Raglione, 2011, Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases.

No implication of apolipoprotein E polymorphism in Italian schizophrenic patients

E. Daneluzzo, S. Sorbi, B. Nacmias, 1998, Neuroscience Letters.

Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease.

Michaël E. Belloy, W. M. van der Flier, D. Rujescu, 2022, JAMA neurology.

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

S. Sorbi, B. Nacmias, E. Lucenteforte, 2012, Journal of Alzheimer's disease : JAD.

Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia

C. Broeckhoven, S. Sorbi, V. Álvarez, 2020, Neurobiology of Aging.

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

R. Sherrington, E. Rogaev, S. Sorbi, 1995, The Lancet.

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

S. Sorbi, B. Nacmias, L. Parnetti, 2001, Brain Research Bulletin.

Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy.

S. Sorbi, B. Nacmias, S. Piacentini, 2001, Archives of neurology.

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

S. Sorbi, B. Nacmias, M. Rotondi, 2005, Neurogenetics.

pathway in eating disorders

J. González, X. Estivill, G. Escaramís, 2008 .

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

F. Jessen, G. Frisoni, B. Bergmans, 2017, Human mutation.

Huntingtin gene intermediate alleles influence the progression from subjective cognitive decline to mild cognitive impairment: A 14‐year follow‐up study

S. Sorbi, B. Nacmias, S. Bagnoli, 2022, European journal of neurology.

Cystatin C and apoe polymorphisms in Italian Alzheimer's disease

S. Sorbi, B. Nacmias, S. Bagnoli, 2006, Neuroscience Letters.

Progranulin Genetic Screening in Frontotemporal Lobar Degeneration Patients From Central Italy

S. Sorbi, B. Nacmias, S. Bagnoli, 2011, Cellular and Molecular Neurobiology.

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

S. Cappa, C. Caltagirone, S. Sorbi, 2012, Neurological Sciences.

White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2019, NeuroImage: Clinical.

APP717 and Alzheimer's disease in Italy

S. Sorbi, B. Nacmias, L. Provinciali, 1993, Nature Genetics.

Brain Glucose Metabolism: Age, Alzheimer’s Disease, and ApoE Allele Effects

L. Mosconi, A. Pupi, S. Sorbi, 2009 .

Association between 5-HT2A receptor polymorphism and psychotic symptoms in Alzheimer’s disease

S. Sorbi, B. Nacmias, A. Tedde, 2001, Biological Psychiatry.

Alzheimer’s Disease CSF Biomarker Profiles in Idiopathic Normal Pressure Hydrocephalus

S. Sorbi, B. Nacmias, A. della Puppa, 2022, Journal of personalized medicine.

Belgian Neurological Society (BNS) and Belgian Dementia Council (BeDeCo) Joint Scientific Meeting University of Antwerp, Belgium, December 10th, 2016

B. Strooper, K. Sleegers, J. Diehl-Schmid, 2017, Acta Neurologica Belgica.

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

F. Jessen, G. Frisoni, T. Strom, 2014, Acta Neuropathologica.

Lack of association between NOS3 polymorphism and Italian sporadic and familial Alzheimer's disease

S. Sorbi, B. Nacmias, S. Bagnoli, 2002, Journal of Neurology.

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

S. Sorbi, B. Nacmias, S. Bagnoli, 2002, Neuroscience Letters.

Mutation analysis of CHCHD10 in different neurodegenerative diseases.

P. S. St George-Hyslop, A. Lang, B. Traynor, 2015, Brain : a journal of neurology.

No Association Between the LRRK2 G2019S Mutation and Alzheimer’s disease in Italy

S. Sorbi, B. Nacmias, S. Bagnoli, 2007, Cellular and Molecular Neurobiology.

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

S. Sorbi, B. Nacmias, D. Galimberti, 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

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

B. Bergmans, C. van Broeckhoven, S. Engelborghs, 2018, Neurobiology of Aging.

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

S. Sorbi, B. Nacmias, C. Polito, 2014, Journal of Alzheimer's disease : JAD.

Apolipoprotein E in sporadic and familial Creutzfeldt-Jakob disease

S. Sorbi, B. Nacmias, M. Salvatore, 1995, Neuroscience Letters.

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

S. Sorbi, B. Nacmias, S. Bagnoli, 2002, Free radical biology & medicine.

Plasma neurofilament light chain as a biomarker of Alzheimer’s disease in Subjective Cognitive Decline and Mild Cognitive Impairment

S. Sorbi, B. Nacmias, V. Berti, 2022, Journal of Neurology.

Hypermethylation of the CpG-island near the C 9 orf 72 G 4 C 2-repeat expansion in FTLD patients

S. Sorbi, B. Nacmias, D. Galimberti, 2014 .

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

P. S. St George-Hyslop, S. Sorbi, B. Nacmias, 2014, Human molecular genetics.

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.

F. Pasquier, C. Duyckaerts, C. van Broeckhoven, 2021, Brain : a journal of neurology.

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

Nick C Fox, Jennifer M. Nicholas, J. Morris, 2019, The Lancet Neurology.

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

C. Franceschi, S. Sorbi, B. Nacmias, 2005, Mechanisms of Ageing and Development.

Loss of speech and functional impairment in Alzheimer's disease-related primary progressive aphasia: predictive factors of decline

A. Mazzoni, S. Sorbi, B. Nacmias, 2022, Neurobiology of Aging.

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

B. Nacmias, C. Piccini, S. Piacentini, 2000, Neurology.

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

Nick C Fox, Michelle K. Lupton, Charles C. White, 2019, Nature Genetics.

Tumor formation and morphogenesis on different Nicotiana sp and hybrids induced by Agrobacterium tumefaciens T‐DNA mutants

D. Inzé, B. Nacmias, M. Buiatti, 1987 .

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Nick C. Fox, Pietro Pietrini, Alexander Gerhard, 2018, Nature Medicine.

Intermediate alleles of HTT: A new pathway in longevity

S. Sorbi, B. Nacmias, S. Bagnoli, 2022, Journal of the Neurological Sciences.

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

S. Sorbi, B. Nacmias, S. Bagnoli, 2014, Journal of Alzheimer's disease : JAD.

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

Kevin F. Bieniek, C. Geula, M. Mesulam, 2018, The Lancet Neurology.

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

Elizabeth, Sandro, Ying-xue, 2018 .

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

R. Sherrington, E. Rogaev, S. Sorbi, 1995, Lancet.

Alpha1 antichymotrypsin signal peptide polymorphism in sporadic Creutzfeldt–Jakob disease

S. Sorbi, B. Nacmias, M. Salvatore, 1997, Neuroscience Letters.

Molecular genetics of Alzheimer's disease in Italian families

S. Sorbi, B. Nacmias, L. Amaducci, 1994, Neurochemistry International.

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

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

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

S. Cappa, C. Caltagirone, G. Frisoni, 2015, Neurological Sciences.

Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2022, Journal of Neuroinflammation.

Gender differences in cognitive reserve: implication for subjective cognitive decline in women

S. Sorbi, B. Nacmias, S. Bagnoli, 2021, Journal of the Neurological Sciences.

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

C. Franceschi, S. Sorbi, B. Nacmias, 2011, Journal of Alzheimer's disease : JAD.

Crossed aphasia in nonfluent variant of primary progressive aphasia carrying a GRN mutation

S. Sorbi, B. Nacmias, V. Berti, 2018, Journal of the Neurological Sciences.

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

A. Singleton, J. Hardy, B. Nacmias, 2016, Journal of Alzheimer's disease : JAD.

Long-term use of pharmacological treatment in Alzheimer’s disease: a retrospective cohort study in real-world clinical practice

S. Sorbi, B. Nacmias, V. Berti, 2022, European Journal of Clinical Pharmacology.

Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations

Jennifer M. Nicholas, P. Thompson, R. Keren, 2022, Journal of Neurology.

The CBI‐R detects early behavioural impairment in genetic frontotemporal dementia

Nick C Fox, M. Freedman, S. Ourselin, 2022, Annals of clinical and translational neurology.

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

S. Sorbi, B. Nacmias, M. Rotondi, 2005, Neurogenetics.

Temporal order of clinical and biomarker changes in familial frontotemporal dementia

Jennifer M. Nicholas, Sheng-Yang M. Goh, M. Freedman, 2022, Nature Medicine.

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

S. Sorbi, B. Nacmias, S. Bagnoli, 2013, Neurological Sciences.

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

S. Sorbi, B. Nacmias, A. Federico, 2004, Archives of neurology.

Association between 5-HT2A receptor polymorphism and psychotic symptoms in Alzheimer's disease

S. Sorbi, B. Nacmias, A. Tedde, 2000, Neurobiology of Aging.

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

M. Boldrini, S. Sorbi, B. Nacmias, 2004, Neuroscience Letters.

A perspective on diet, epigenetics and complex diseases: where is the field headed next?

F. Coppedè, B. Nacmias, G. Matullo, 2022, Epigenomics.

Tenth Meeting of the European Neurological Society 18–22 June, 2000, Jerusalem, Israël

S. Sorbi, B. Nacmias, A. Orlacchio, 2000, Journal of Neurology.

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 study

G. Castellini, S. Sorbi, B. Nacmias, 2016, Psychiatry Research.

Absence of APP717 mutation in Italian FAD families

S. Sorbi, B. Nacmias, L. Amaducci, 1992 .

Effects of Donepezil,Galantamine and Rivastigmine in 938 Italian Patients with Alzheimer’s Disease

C. Franceschi, S. Sorbi, B. Nacmias, 2010, CNS drugs.

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

S. Sorbi, B. Nacmias, S. Bagnoli, 2002, Archives of neurology.

ApoE as a prognostic factor for post–traumatic coma

S. Sorbi, B. Nacmias, L. Amaducci, 1995, Nature Medicine.

Association of IL10 promoter polymorphism in Italian Alzheimer's disease

S. Sorbi, B. Nacmias, S. Bagnoli, 2007, Neuroscience Letters.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Nick C Fox, W. M. van der Flier, A. Uitterlinden, 2022, Nature Genetics.

Progranulin Genetic Screening in Frontotemporal Lobar Degeneration Patients From Central Italy

S. Sorbi, B. Nacmias, S. Bagnoli, 2011, Cellular and Molecular Neurobiology.

GENFI - The GENetic Frontotemporal dementia Initiative

M. Freedman, R. Keren, G. Frisoni, 2012 .

Evidence for Sub-Haplogroup H5 of Mitochondrial DNA as a Risk Factor for Late Onset Alzheimer's Disease

C. Franceschi, S. Sorbi, B. Nacmias, 2010, PloS one.

Matching Clinical Diagnosis and Amyloid Biomarkers in Alzheimer’s Disease and Frontotemporal Dementia

S. Sorbi, B. Nacmias, V. Berti, 2021, Journal of Personalized Medicine.

Pattern and Progression of Cognitive Decline in Alzheimer’s Disease: Role of Premorbid Intelligence and ApoE Genotype

S. Sorbi, B. Nacmias, C. Piccini, 2007, Dementia and Geriatric Cognitive Disorders.

Early Clinical and Molecular Detection of Alzheimer's Disease

C. Reitz, B. Nacmias, T. Arendt, 2011, International journal of Alzheimer's disease.

Specific Silencing of L392V PSEN1 Mutant Allele by RNA Interference

S. Sorbi, B. Nacmias, S. Bagnoli, 2011, International journal of Alzheimer's disease.

Human iPSC-Derived Hippocampal Spheroids: An Innovative Tool for Stratifying Alzheimer Disease Patient-Specific Cellular Phenotypes and Developing Therapies

C. Rampon, S. Sorbi, B. Nacmias, 2020, Stem cell reports.

Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

Hunna J. Watson, Ryan L. Collins, Dan J Stein, 2019, bioRxiv.

Convergent genetic and expression data implicate immunity in Alzheimer's disease

J. Gallacher, K. Lunetta, M. Nalls, 2014, Alzheimer's & Dementia.

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

J. Rommens, R. Sherrington, E. Rogaev, 1995, Nature.

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

Hunna J. Watson, I. Ntalla, E. Zeggini, 2019, Nature Genetics.

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

J. González, M. Gratacós, X. Estivill, 2008, Human molecular genetics.

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

Nick C Fox, Catherine A. Macleod, W. M. van der Flier, 2022, Nature Genetics.

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

W. M. van der Flier, M. Fornage, D. Rujescu, 2021, Nature Communications.

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

Nick C Fox, Michelle K. Lupton, Charles C. White, 2019, Nature Genetics.

Impact of demography and population dynamics on the genetic architecture of human longevity

A. Yashin, D. Mari, C. Franceschi, 2018, Aging.

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

M Mancuso, R Ferri, P. Bosco, 2012, Molecular Psychiatry.

Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder

N. Craddock, M. Owen, M. O’Donovan, 1996, Psychological Medicine.

Meta-analysis of the Association Between Variants in SORL 1 and Alzheimer Disease

J. Haines, M. Pericak-Vance, M. Owen, 2011 .

Emotional dysregulation, alexithymia and neuroticism: a systematic review on the genetic basis of a subset of psychological traits

G. Castellini, S. Sorbi, B. Nacmias, 2022, Psychiatric genetics.

Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes

Nick C Fox, Alan J. Thomas, D. Hernandez, 2021, Biological Psychiatry.

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

S. Sorbi, B. Nacmias, S. Bagnoli, 2011, Neurobiology of Aging.

Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies

Hunna J. Watson, I. Ntalla, E. Zeggini, 2019, bioRxiv.

Genetic Heterogeneity of Alzheimer’s Disease: Embracing Research Partnerships

Sandro Sorbi, S. Sorbi, B. Nacmias, 2017, Journal of Alzheimer's disease : JAD.

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

S. Sorbi, B. Nacmias, C. Cupidi, 2017, Neurobiology of Aging.

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

S. Sorbi, B. Nacmias, S. Bagnoli, 2016, Neuroscience Letters.

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

S. Sorbi, B. Nacmias, T. Arendt, 2011, International journal of Alzheimer's disease.

Early structural changes in individuals at risk of familial Alzheimer’s disease: a volumetry and magnetization transfer MR imaging study

M. Battaglini, M. Giannelli, M. Mascalchi, 2009, Journal of Neurology.

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

Sandro Sorbi, Marco Paganini, Paolo Caffarra, 2003, Archives of neurology.

Genetic risk factors in familial Alzheimer's disease

S. Sorbi, B. Nacmias, S. Bagnoli, 2001, Mechanisms of Ageing and Development.

HLA A2 allele is associated with age at onset of Alzheimer's disease

S. Sorbi, B. Nacmias, L. Massacesi, 1999, Annals of neurology.

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

S. Sorbi, B. Nacmias, L. Amaducci, 1998, Neuroscience Letters.

Presenilin-1 gene intronic polymorphism in sporadic and familial Azheimer's disease

S. Sorbi, B. Nacmias, L. Amaducci, 1997, Neuroscience Letters.

Apolipoprotein E and α1‐antichymotrypsin polymorphism in Alzheimer's disease

S. Sorbi, B. Nacmias, L. Amaducci, 1996 .

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

J. Rommens, Y. Agid, R. Sherrington, 1996, Human molecular genetics.

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

D. Collier, M. Gratacós, X. Estivill, 2005, European Journal of Human Genetics.

Whole-genome sequencing analysis of semi-supercentenarians

A. Valsesia, G. Castellani, D. Girelli, 2021, eLife.

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

B. Nacmias, N. Di Lorenzo, M. Paganini, 2015, Cell transplantation.

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

Sandro Sorbi, Valentina Bessi, Laura Bracco, 2008, Neuroscience Letters.

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

S. Sorbi, B. Nacmias, C. Piccini, 2004, Neuroscience Letters.

Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study

Jennifer M. Nicholas, M. Freedman, N. Fox, 2021, Alzheimer's & dementia.

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

P. Bosco, J. Haines, M. Pericak-Vance, 2010, Journal of Alzheimer's disease : JAD.

International conference on biomedical aspects of aging research

R. A. Miller, L. Schneider, B. Hyman, 1998 .

New insights on the genetic etiology of Alzheimer’s and related dementia

Nick C Fox, Catherine A. Macleod, W. M. van der Flier, 2020 .

Large meta-analysis of genome-wide association studies expands knowledge of the genetic etiology of Alzheimer disease and highlights potential translational opportunities

Pavel P. Kuksa, D. Rujescu, S. Djurovic, 2020, medRxiv.

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

E. Haan, P. Pietrini, R. Petersen, 2017, Scientific Reports.

D. Hernandez, M. Nalls, L. Ferrucci, 2017, bioRxiv.

A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

F. Jessen, G. Frisoni, K. Sleegers, 2012, Human mutation.

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

S. Sorbi, B. Nacmias, D. Galimberti, 2015, Acta Neuropathologica.

Heterozygous TREM2 mutations in frontotemporal dementia

S. Sorbi, B. Nacmias, D. Galimberti, 2014, Neurobiology of Aging.

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

P. Bosco, Y. Kamatani, G. Spalletta, 2012, Molecular Psychiatry.

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

S. Sorbi, B. Nacmias, P. Paoli, 2008, Free radical biology & medicine.

Alzheimer’s Disease: Role of Size and Location of White Matter Changes in Determining Cognitive Deficits

M. Mascalchi, S. Sorbi, B. Nacmias, 2005, Dementia and Geriatric Cognitive Disorders.

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

Alexander Gerhard, Adrian Danek, Luigi Ferrucci, 2014, The Lancet Neurology.

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

S. Sorbi, B. Nacmias, F. Nicoletti, 2015, Front. Cell. Neurosci..

Genetics of vascular dementia – review from the ICVD working group

H. Schmidt, B. Nacmias, M. Ikram, 2017, BMC Medicine.

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

Daniele Pepe, Erika Salvi, Fernando Palluzzi, 2015, Neurobiology of Aging.

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

D. Comings, B. Hyman, T. Asada, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Increased susceptibility to amyloid toxicity in familial Alzheimer's fibroblasts

S. Sorbi, B. Nacmias, D. Nosi, 2007, Neurobiology of Aging.

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

Tilman Grune, Claudio Franceschi, Sandro Sorbi, 2006, Neurobiology of Aging.

From Subjective Cognitive Decline to Alzheimer's Disease: The Predictive Role of Neuropsychological Assessment, Personality Traits, and Cognitive Reserve. A 7-Year Follow-Up Study.

S. Sorbi, B. Nacmias, C. Piccini, 2018, Journal of Alzheimer's disease : JAD.

Creutzfeldt-Jakob Disease in a Patient with Previous COVID-19 Infection: “The Virus Caused the Derangement in My Brain”

S. Sorbi, B. Nacmias, V. Bessi, 2023, Journal of Alzheimer's disease reports.

Alpha-synuclein seeds in olfactory mucosa and cerebrospinal fluid of patients with dementia with Lewy bodies

L. Sacchetto, P. Manganotti, G. Gigli, 2021, Brain communications.

A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2021, Brain : a journal of neurology.

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

Veronica Redaelli, Sebastien Ourselin, Martina Bocchetta, 2015, The Lancet Neurology.

Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2019, Neurobiology of Aging.

High Frequency of Crossed Aphasia in Dextral in an Italian Cohort of Patients with Logopenic Primary Progressive Aphasia.

S. Sorbi, B. Nacmias, V. Berti, 2019, Journal of Alzheimer's disease : JAD.

Crossed aphasia confirmed by fMRI in a case with nonfluent variant of primary progressive aphasia carrying a GRN mutation

M. Filippi, F. Agosta, S. Sorbi, 2019, Journal of Neurology.

Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer’s disease

W. M. van der Flier, A. Uitterlinden, R. Redon, 2021, Alzheimer's & dementia : the journal of the Alzheimer's Association.

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

Hilkka Soininen, Sandro Sorbi, Philippe Amouyel, 2011, Neurobiology of Aging.

Are Premorbid Personality Traits Linked to the Risk of Alzheimer’s Disease?

S. Sorbi, B. Nacmias, M. Balestrieri, 2000, Psychotherapy and Psychosomatics.

Shared genetic contribution to ischemic stroke and Alzheimer's disease

Nick C Fox, C. Sudlow, J. Gallacher, 2016, Annals of neurology.

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

D. Collier, S. Sorbi, B. Nacmias, 2008, Drug and alcohol dependence.

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

S. Sorbi, B. Nacmias, L. Amaducci, 1995, Annals of neurology.

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

S. Sorbi, B. Nacmias, S. Bagnoli, 2009, Archives of neurology.

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

Nick C Fox, M. Freedman, S. Ourselin, 2018, Alzheimer's research & therapy.

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

S. Sorbi, B. Nacmias, M. Rotondi, 2006, Neurobiology of Aging.

Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales

Jennifer M. Nicholas, M. Freedman, R. Keren, 2022, Journal of Neurology.

Genetics of familial and sporadic Alzheimer's disease.

Sandro Sorbi, S. Sorbi, B. Nacmias, 2013, Frontiers in bioscience.

Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study

M. Freedman, J. Dukart, R. Keren, 2023, Neurobiology of Disease.

Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation

G. Comi, S. Cappa, M. Filippi, 2013, Biological Psychiatry.

Conceptual framework for the definition of preclinical and prodromal frontotemporal dementia

B. Nacmias, D. Galimberti, M. Bocchetta, 2021, Alzheimer's & dementia : the journal of the Alzheimer's Association.

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

S. Sorbi, B. Nacmias, L. Amaducci, 1995, Neuroscience Letters.

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

F. Coppedè, L. Migliore, S. Sorbi, 2012, Current Alzheimer research.

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

S. Sorbi, B. Nacmias, L. Amaducci, 1994, Neuroscience Letters.

The 5-HT2A −1438G/A polymorphism in anorexia nervosa: a combined analysis of 316 trios from six European centres

H Remschmidt, D. Collier, M. Gratacós, 2001, Molecular Psychiatry.

The implication of BDNF Val66Met polymorphism in progression from subjective cognitive decline to mild cognitive impairment and Alzheimer’s disease: a 9-year follow-up study

S. Sorbi, B. Nacmias, S. Bagnoli, 2019, European Archives of Psychiatry and Clinical Neuroscience.

5-HT2A receptor gene polymorphism and eating disorders

Sandro Sorbi, Valdo Ricca, S. Sorbi, 2002, Neuroscience Letters.

Predictors of Function, Activity, and Participation of Stroke Patients Undergoing Intensive Rehabilitation: A Multicenter Prospective Observational Study Protocol

M. Carrozza, A. Poggesi, B. Nacmias, 2021, Frontiers in Neurology.

Unravelling neural correlates of empathy deficits in Subjective Cognitive Decline, Mild Cognitive Impairment and Alzheimer’s Disease

S. Sorbi, B. Nacmias, V. Berti, 2022, Behavioural Brain Research.

FDG PET and the genetics of dementia

S. Sorbi, B. Nacmias, V. Berti, 2013, Clinical and Translational Imaging.

Cerebral amyloid load determination in a clinical setting: interpretation of amyloid biomarker discordances aided by tau and neurodegeneration measurements

A. Pupi, S. Sorbi, B. Nacmias, 2021, Neurological Sciences.

PER2 C111G polymorphism, cognitive reserve and cognition in subjective cognitive decline and mild cognitive impairment: a 10‐year follow‐up study

S. Sorbi, B. Nacmias, S. Bagnoli, 2020, European journal of neurology.

Challenges in Alzheimer's Disease Diagnostic Work-Up: Amyloid Biomarker Incongruences.

A. Pupi, S. Sorbi, B. Nacmias, 2020, Journal of Alzheimer's disease : JAD.

Influence of ApoE Genotype and Clock T3111C Interaction with Cardiovascular Risk Factors on the Progression to Alzheimer’s Disease in Subjective Cognitive Decline and Mild Cognitive Impairment Patients

S. Sorbi, B. Nacmias, S. Bagnoli, 2020, Journal of personalized medicine.

Imaging and Cognitive Reserve Studies Predict Dementia in Presymptomatic Alzheimer's Disease Subjects

S. Sorbi, B. Nacmias, S. Bagnoli, 2013, Neurodegenerative Diseases.

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

G. Frisoni, C. Babiloni, S. Sorbi, 2016, Journal of Alzheimer's disease : JAD.

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

Nick C Fox, Keith A. Johnson, Raymond Scott Turner, 2017, Nature Communications.

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

M. Tsolaki, K. Sleegers, C. van Broeckhoven, 2017, Acta Neuropathologica.

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

S. Sorbi, B. Nacmias, E. Lucenteforte, 2010, Journal of Alzheimer's Disease.

Metabolic interaction between ApoE genotype and onset age in Alzheimer’s disease: implications for brain reserve

K Herholz, A Pupi, K. Herholz, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort

J. E. Iglesias, Jennifer M. Nicholas, M. Freedman, 2023, Brain communications.

Differential early subcortical involvement in genetic FTD within the GENFI cohort

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2021, NeuroImage: Clinical.

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

B. Nacmias, A. Caselli, S. Bagnoli, 2014, Journal of Alzheimer's disease : JAD.

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

B. Nacmias, G. Kelsey, M. Benelli, 2020, International journal of molecular sciences.

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

D. Collier, S. Sorbi, B. Nacmias, 2011, Clinical psychology & psychotherapy.

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

J. González, M. Gratacós, X. Estivill, 2010, Journal of psychiatric research.

The Brain-Derived Neurotrophic Factor Val66Met Polymorphism Can Protect Against Cognitive Impairment in Multiple Sclerosis

S. Sorbi, B. Nacmias, M. Amato, 2021, Frontiers in Neurology.

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

S. Sorbi, B. Nacmias, M. Amato, 2009, Acta neurologica Scandinavica.

APOE-ε4 is not associated with cognitive impairment in relapsing—remitting multiple sclerosis

S. Sorbi, B. Nacmias, A. Federico, 2009, Multiple sclerosis.

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

K. Herholz, L. Mosconi, A. Pupi, 2004, Psychiatry Research: Neuroimaging.

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

D. Collier, S. Sorbi, B. Nacmias, 2008, British Journal of Nutrition.

Influence of Apolipoprotein E ϵ4 Genotype on Brain Tissue Integrity in Relapsing-Remitting Multiple Sclerosis

S. Sorbi, B. Nacmias, A. Federico, 2004 .

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

S. Sorbi, B. Nacmias, A. Conte, 2008, Journal of Alzheimer's disease : JAD.

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

S. Sorbi, B. Nacmias, A. Orlacchio, 2001, Neuroscience Letters.

Differences and Similarities in Empathy Deficit and Its Neural Basis between Logopenic and Amnesic Alzheimer’s Disease

S. Sorbi, B. Nacmias, V. Berti, 2023, Journal of personalized medicine.

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

P. Mecocci, S. Sorbi, B. Nacmias, 1999, Biochemical and biophysical research communications.

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

G. Frisoni, C. Broeckhoven, S. Engelborghs, 2018, Neurobiology of Aging.

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

C. Broeckhoven, M. Tsolaki, K. Sleegers, 2018, Neurobiology of Aging.

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

S. Sorbi, B. Nacmias, S. Bagnoli, 2013, Current Alzheimer research.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Nick C Fox, Alan J. Thomas, D. Hernandez, 2018, Nature Medicine.

Neurofilament Light Chain and Intermediate HTT Alleles as Combined Biomarkers in Italian ALS Patients

S. Sorbi, B. Nacmias, S. Bagnoli, 2021, Frontiers in Neuroscience.

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

C. Faravelli, G. Castellini, S. Sorbi, 2010, Psychiatric genetics.

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

G. Castellini, S. Sorbi, B. Nacmias, 2017, PloS one.

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

Nick C Fox, Alan J. Thomas, D. Hernandez, 2018, Brain : a journal of neurology.

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

Sandro Sorbi, Francesca Cardona, Roberta Cascella, 2012, Free radical biology & medicine.

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

S. Sorbi, B. Nacmias, S. Bagnoli, 2011, Archives of gerontology and geriatrics.

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Nick C Fox, W. M. van der Flier, A. Uitterlinden, 2022, Genome Medicine.

Implication of a genetic variant at PICALM in Alzheimer’s disease patients and centenarians.

S. Sorbi, M. Mancuso, B. Nacmias, 2011, Journal of Alzheimer's disease : JAD.

The SIRT2 polymorphism rs10410544 and risk of Alzheimer’s disease in two Caucasian case–control cohorts

L. Polito, P. Kehoe, S. Sorbi, 2013, Alzheimer's & Dementia.

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

D. Collier, S. Sorbi, B. Nacmias, 2013, Journal of health psychology.

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

D. Collier, M. Gratacós, X. Estivill, 2004, Human molecular genetics.

Associations between ADHD and various eating disorders : A Swedish nationwide population study using multiple genetically informative approaches

Hunna J. Watson, I. Ntalla, E. Zeggini, 2019 .

Dual Effect of PER2 C111G Polymorphism on Cognitive Functions across Progression from Subjective Cognitive Decline to Mild Cognitive Impairment

S. Sorbi, B. Nacmias, S. Bagnoli, 2021, Diagnostics.

PET study in subjects from two Italian FAD families with APP717 Val to Ileu mutation

D. Perani, F. Fazio, F. Grassi, 1997 .

author-version of: Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease

C. van Broeckhoven, S. Sorbi, V. Álvarez, 2022 .

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

S. Sorbi, B. Nacmias, C. Ferrari, 2018, Neurological Sciences.

A Pilot Study Evaluating the Contribution of SLC19A1 (RFC-1) 80G>A Polymorphism to Alzheimer's Disease in Italian Caucasians

F. Coppedè, L. Migliore, S. Sorbi, 2014, BioMed research international.

Creating the Pick’s disease International Consortium: Association study of MAPT H2 haplotype with risk of Pick’s disease

Derek H. Oakley, A. Singleton, D. Vitale, 2023, medRxiv.

Primary Progressive Aphasia: Natural History in an Italian Cohort

S. Sorbi, B. Nacmias, V. Berti, 2019, Alzheimer disease and associated disorders.

No association between bipolar disorder and alleles at a functional polymorphism in the COMT gene

G. Kirov, N. Craddock, M. Leboyer, 1997, British Journal of Psychiatry.

Tomm40 polymorphisms in Italian Alzheimer’s disease and frontotemporal dementia patients

S. Sorbi, B. Nacmias, S. Bagnoli, 2013, Neurological Sciences.

SIRT1 accelerates the progression of activity-based anorexia

S. Sorbi, B. Nacmias, V. Ricca, 2020, Nature Communications.

Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease

P. Bosco, S. Kochen, F. Jessen, 2019, Translational Psychiatry.

A case of limbic encephalitis evolving into a frontotemporal dementia‐like picture

A. Pupi, S. Sorbi, B. Nacmias, 2019, Psychogeriatrics.

Lack of association between TNF-α polymorphisms and Alzheimer’s disease in an Italian cohort

S. Sorbi, B. Nacmias, S. Bagnoli, 2008, Neuroscience Letters.

Degradation of EEG microstates patterns in subjective cognitive decline and mild cognitive impairment: Early biomarkers along the Alzheimer’s Disease continuum?

S. Micera, A. Mazzoni, S. Sorbi, 2023, NeuroImage: Clinical.

Clinical, Neurophysiological, and Genetic Predictors of Recovery in Patients With Severe Acquired Brain Injuries (PRABI): A Study Protocol for a Longitudinal Observational Study

M. Carrozza, B. Nacmias, A. Grippo, 2022, Frontiers in Neurology.

Fragile X premutation with atypical symptoms at onset.

M. Mascalchi, S. Sorbi, B. Nacmias, 2006, Archives of neurology.

Clinical and neuroimaging profiles to identify C9orf72‐FTD patients and serum Neurofilament to monitor the progression and the severity of the disease

A. Pupi, S. Sorbi, B. Nacmias, 2019, Neurology and Clinical Neuroscience.

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

Nick C Fox, D. Hernandez, M. Nalls, 2017, Scientific Reports.

Belgian Neurological Society (BNS) and Belgian Dementia Council (BeDeCo) Joint Scientific Meeting University of Antwerp, Belgium, December 10th, 2016

B. Strooper, K. Sleegers, J. Diehl-Schmid, 2017, Acta Neurologica Belgica.

CAG Repeats Within the Non-pathological Range in the HTT Gene Influence Personality Traits in Patients With Subjective Cognitive Decline: A 13-Year Follow-Up Study

S. Sorbi, B. Nacmias, S. Bagnoli, 2022, Frontiers in Psychiatry.

The Effect of CAG Repeats within the Non-Pathological Range in the HTT Gene on Cognitive Functions in Patients with Subjective Cognitive Decline and Mild Cognitive Impairment

S. Sorbi, B. Nacmias, S. Bagnoli, 2021, Diagnostics.

PRedicting the EVolution of SubjectIvE Cognitive Decline to Alzheimer’s Disease With machine learning: the PREVIEW study protocol

A. Mazzoni, S. Sorbi, B. Nacmias, 2023, BMC Neurology.

Mutation analysis of patients with neurodegenerative disorders using NeuroX array

M. Nalls, A. Lang, S. Sorbi, 2015, Neurobiology of Aging.

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

A. Pupi, S. Sorbi, B. Nacmias, 2017, Journal of Alzheimer's disease : JAD.

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

M. Gratacós, X. Estivill, H. Wichmann, 2012, Obesity Facts.

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

C. Faravelli, G. Castellini, S. Sorbi, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

M. Tsolaki, K. Sleegers, C. van Broeckhoven, 2015, Human mutation.

Association of apolipoprotein E polymorphism to clinical heterogeneity of multiple sclerosis

S. Sorbi, B. Nacmias, M. Amato, 2000, Neuroscience Letters.

The dual role of cognitive reserve in subjective cognitive decline and mild cognitive impairment: a 7-year follow-up study

Salvatore Mazzeo, Sandro Sorbi, Valentina Bessi, 2019, Journal of Neurology.

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

S. Sorbi, B. Nacmias, L. Amaducci, 1997, Neuroscience Letters.

Language impairment in the genetic forms of behavioural variant frontotemporal dementia

Jennifer M. Nicholas, M. Freedman, R. Keren, 2022, Journal of Neurology.

A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study

Jennifer M. Nicholas, M. Freedman, S. Ourselin, 2021, Molecular Neurodegeneration.

Novel GRN Mutations in Alzheimer's Disease and Frontotemporal Lobar Degeneration.

S. Sorbi, B. Nacmias, S. Bagnoli, 2018, Journal of Alzheimer's disease : JAD.

Linguistic profiles, brain metabolic patterns and rates of amyloid-β biomarker positivity in patients with mixed primary progressive aphasia

S. Sorbi, B. Nacmias, V. Berti, 2020, Neurobiology of Aging.

Epidemiology of amyotrophic lateral sclerosis in the north east Tuscany in the 2018-2021 period.

S. Sorbi, B. Nacmias, M. Cincotta, 2023, eNeurologicalSci.

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

A. Pupi, S. Sorbi, B. Nacmias, 2017, Journal of Alzheimer's disease : JAD.

Immunoproteasome LMP2 60HH Variant Alters MBP Epitope Generation and Reduces the Risk to Develop Multiple Sclerosis in Italian Female Population

Sandra D'Alfonso, Filippo Martinelli-Boneschi, Claudio Franceschi, 2010, PloS one.

Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease‐like and ataxia

S. Sorbi, B. Nacmias, S. Bagnoli, 2004, Annals of neurology.

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

C. Franceschi, S. Sorbi, B. Nacmias, 2010, Journal of Alzheimer's Disease.

OP-BRAI180237 2895..2907

D. Hernandez, M. Nalls, A. Singleton, 2018 .

Biomarkers study in atypical dementia: proof of a diagnostic work-up

A. Pupi, S. Sorbi, B. Nacmias, 2018, Neurological Sciences.

Theme 08 - Clinical Imaging and Electrophysiology

Jennifer M. Nicholas, M. Freedman, R. Keren, 2022, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.

Combined family trio and case‐control analysis of the COMT Val158Met polymorphism in European patients with anorexia nervosa

M. Gratacós, X. Estivill, S. Sorbi, 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

S. Sorbi, B. Nacmias, L. Parnetti, 2001, Journal of Neurology.

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

G. Frisoni, C. Broeckhoven, K. Sleegers, 2015, Neurobiology of Aging.

Semantic dementia associated with mutation V363I in the tau gene

S. Sorbi, B. Nacmias, S. Bagnoli, 2010, Journal of the Neurological Sciences.

Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease

D. Rujescu, O. Andreassen, G. Spalletta, 2023, JAMA network open.

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

B. Nacmias, G. Lucidi, A. Tedde, 2013, Neurological Sciences.

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

Sandro Sorbi, Silvia Piacentini, S. Sorbi, 2009, Journal of Alzheimer's disease : JAD.

Alzheimer's Disease and Apolipoprotein E in Italy a

S. Sorbi, B. Nacmias, L. Amaducci, 1996, Annals of the New York Academy of Sciences.

Alzheimer's Disease Progression: Factors Influencing Cognitive Decline.

L. Fratiglioni, S. Sorbi, B. Nacmias, 2017, Journal of Alzheimer's disease : JAD.

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

S. Sorbi, B. Nacmias, S. Bagnoli, 2006, Neuroscience Letters.

Contribution of Bilingualism to Cognitive Reserve of an Italian Literature Professor at High Risk for Alzheimer's Disease.

A. Pupi, S. Sorbi, B. Nacmias, 2018, Journal of Alzheimer's disease : JAD.

Lactate production and glycolytic enzymes in sporadic and familial Alzheimer’s disease

S. Sorbi, B. Nacmias, L. Amaducci, 1989 .

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

Sandro Sorbi, Valentina Bessi, S. Sorbi, 2012, Journal of the Neurological Sciences.

Alpha2-macroglobulin polymorphisms in Italian sporadic and familial Alzheimer's disease.

S. Sorbi, B. Nacmias, A. Orlacchio, 2001, Neuroscience Letters.

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

F. Coppedè, L. Migliore, S. Sorbi, 2012, Antioxidants & redox signaling.

Sex influences clinical phenotype in valosin-containing protein mutations: a case family report and systematic literature review

B. Nacmias, A. Malandrini, F. Santorelli, 2023, Clinical Neurology and Neurosurgery.

Human iPSC-derived hippocampal spheroids: An innovative tool for stratifying Alzheimer disease patient-specific cellular phenotypes and developing therapies

C. Rampon, S. Sorbi, B. Nacmias, 2021, Stem Cell Reports.

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

S. Sorbi, B. Nacmias, S. Bagnoli, 2004, Annals of neurology.

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

D. Collier, M. Gratacós, X. Estivill, 2006, Psychiatric genetics.

Alzheimer's disease: genetic basis and amyloid imaging as endophenotype.

S. Sorbi, B. Nacmias, V. Berti, 2011, The quarterly journal of nuclear medicine and molecular imaging : official publication of the Italian Association of Nuclear Medicine (AIMN) [and] the International Association of Radiopharmacology (IAR), [and] Section of the Society of....

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

B. Giusti, R. Abbate, S. Sorbi, 2001, Neuroscience Letters.

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

S. Sorbi, B. Nacmias, S. Bagnoli, 2005, Alzheimer disease and associated disorders.

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

B. Nacmias, R. Perl-Treves, E. Galun, 1988, Plant Molecular Biology.

CXCR4 involvement in neurodegenerative diseases

O. Andreassen, G. Schellenberg, A. Dale, 2017, bioRxiv.

Sex influences clinical phenotype in valosin-containing protein mutations: A case family report and systematic literature review

B. Nacmias, A. Malandrini, F. Santorelli, 2023, Clinical neurology and neurosurgery (Dutch-Flemish ed. Print).

Late-onset Huntington disease: An Italian cohort

S. Sorbi, B. Nacmias, S. Bagnoli, 2021, Journal of Clinical Neuroscience.

Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches

Hunna J. Watson, I. Ntalla, E. Zeggini, 2019, Biological Psychiatry.

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

D. Collier, S. Sorbi, B. Nacmias, 2015, Appetite.

Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study

Nick C Fox, Jennifer M. Nicholas, M. Freedman, 2022, Journal of Neuroinflammation.

Biomarkers of aging in frailty and age-associated disorders: State of the art and future perspective

B. Nacmias, L. Iacoviello, A. Antonini, 2023, Ageing Research Reviews.

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

C. Romano, F. Coppedè, L. Migliore, 2017, Journal of Alzheimer's disease : JAD.

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

Hunna J. Watson, I. Ntalla, E. Zeggini, 2016, bioRxiv.

Psychosis, serotonin receptor polymorphism and Alzheimer's disease.

S. Sorbi, B. Nacmias, S. Piacentini, 2001, Archives of gerontology and geriatrics. Supplement.

The Huntington’s Disease Gene in an Italian Cohort of Patients with Bipolar Disorder

S. Sorbi, B. Nacmias, S. Bagnoli, 2023, Genes.

Protective effects of HLA-DRB1*04 subtypes in Parkinson's and Alzheimer's diseases implicate acetylated Tau PHF6 sequences

Michaël E. Belloy, W. M. van der Flier, D. Rujescu, 2021, medRxiv.

Alzheimer's disease: phenotypes and genotypes.

S. Sorbi, B. Nacmias, P. Forleo, 1997, Functional neurology.

KIBRA T allele influences memory performance and progression of cognitive decline: a 7-year follow-up study in subjective cognitive decline and mild cognitive impairment

S. Sorbi, B. Nacmias, S. Bagnoli, 2019, Neurological Sciences.

The role of plasma neurofilament light chain and glial fibrillary acidic protein in subjective cognitive decline and mild cognitive impairment

B. Nacmias, V. Berti, C. Polito, 2023, Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology.

Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort

Jennifer M. Nicholas, M. Freedman, R. Keren, 2023, Journal of the Neurological Sciences.

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

M. Memo, S. Sorbi, B. Nacmias, 2010, Journal of Molecular Medicine.

Multilayered nanoparticles as optical sensors for amyloid ß-peptide (1-42) targeting in liquid samples

B. Nacmias, S. Bagnoli, F. Pavone, 2023, BiOS.

DDH137 1205..1212

D. Collier, M. Gratacós, X. Estivill, 2004 .

Plasma neurofilament light chain predicts Alzheimer’s disease in patients with subjective cognitive decline and mild cognitive impairment: a longitudinal study

S. Sorbi, B. Nacmias, V. Berti, 2023, medRxiv.

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

P. Pietrini, R. Desikan, J. Trojanowski, 2019, Scientific Reports.

Proteomic analysis across patient iPSC-based models and human post-mortem hippocampal tissue reveals early cellular dysfunction and progression of Alzheimer’s disease pathogenesis

B. Nacmias, S. Bagnoli, O. Klementieva, 2023, Acta Neuropathologica Communications.

Proteomic analysis across patient iPSC-based models and human post-mortem hippocampal tissue reveals early cellular dysfunction, progression, and prion-like spread of Alzheimer’s disease pathogenesis

B. Nacmias, S. Bagnoli, O. Klementieva, 2023, bioRxiv.

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

Genetic, Nick C Fox, Michelle K. Lupton, 2019, Nature Genetics.

Mutation analysis of patients with neurodegenerative disorders using NeuroX array

M. Nalls, A. Lang, S. Sorbi, 2015, Neurobiology of Aging.

A proof-of-concept study applying machine learning methods to putative risk factors for eating disorders: results from the multi-centre European project on healthy eating

Günter P. Wagner, S. Sorbi, B. Nacmias, 2021, Psychological Medicine.

Sex influences clinical phenotype in valosin-containing protein mutations: A case family report and systematic literature review

B. Nacmias, A. Malandrini, F. Santorelli, 2023, Clinical Neurology and Neurosurgery.

Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation

M. Filippi, M. Franceschi, F. Agosta, 2013, Biological Psychiatry.

Transferability of a European-derived Alzheimer Disease Genetic Risk Score across Multi-Ancestry Populations.

M. Pericak-Vance, G. Schellenberg, M. Greicius, 2023, medRxiv.

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

Hunna J. Watson, Sarah M. Hartz, Daniel E. Adkins, 2020, Addiction biology.

Brain metabolic differences between sporadic and familial Alzheimer’s disease

K. Herholz, L. Mosconi, A. Pupi, 2003, Neurology.

Personalized modeling of neurodegeneration determines dementia severity from EEG recordings

B. Nacmias, V. Bessi, R. Burali, 2023, medRxiv.

P0343 - Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders

J. González, M. Gratacós, X. Estivill, 2008, European Psychiatry.

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

Nick C Fox, Pavel P. Kuksa, W. M. van der Flier, 2022, Nature Genetics.

Diagnostic accuracy of research criteria for prodromal frontotemporal dementia

Y. Pijnenburg, T. Rittman, B. Nacmias, 2024, Alzheimer's Research & Therapy.

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

A. Singleton, B. Nacmias, D. Galimberti, 2016, Journal of Alzheimer's disease : JAD.

Plasma neurofilament light chain predicts Alzheimer's disease in patients with subjective cognitive decline and mild cognitive impairment: A cross‐sectional and longitudinal study

B. Nacmias, V. Berti, C. Polito, 2023, European Journal of Neurology.

Disentangling empathy impairment along Alzheimer's disease continuum: From subjective cognitive decline to Alzheimer's dementia

B. Nacmias, C. Polito, S. Bagnoli, 2024, Cortex.

Plasma GFAP, NfL and pTau 181 detect preclinical stages of dementia

B. Nacmias, S. Bagnoli, V. Bessi, 2024, Frontiers in endocrinology.

Future perspective and clinical applicability of the combined use of plasma phosphorylated tau 181 and neurofilament light chain in Subjective Cognitive Decline and Mild Cognitive Impairment

B. Nacmias, S. Bagnoli, V. Bessi, 2024, Scientific reports.

Data-driven subtypes of mixed semantic-logopenic primary progressive aphasia: Linguistic features, biomarker profiles and brain metabolic patterns

B. Nacmias, C. Polito, S. Bagnoli, 2024, Journal of the Neurological Sciences.

Parkinson-ALS with a novel MAPT variant

B. Nacmias, S. Ramat, S. Bagnoli, 2023, Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology.

B. Nacmias, S. Bagnoli, V. Bessi, 2024, bioRxiv.

Personalized modeling of Alzheimer's disease progression estimates neurodegeneration severity from EEG recordings

B. Nacmias, V. Bessi, R. Burali, 2024, Alzheimer's & dementia.

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

S. Sorbi, B. Nacmias, A. Mugelli, 2010, Neuroscience Letters.

Understanding the interplay between APO E polymorphism and cognition in the Italian oldest old: results from the "Mugello study".

S. Sorbi, B. Nacmias, S. Pancani, 2023, Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology.

Early functional MRI changes in a prodromal semantic variant of primary progressive aphasia: a longitudinal case report

M. Filippi, F. Agosta, S. Sorbi, 2020, Journal of Neurology.

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

Hunna J. Watson, I. Ntalla, E. Zeggini, 2016, bioRxiv.

Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia

H. Leonard, D. Knopman, C. van Broeckhoven, 2024, American journal of human genetics.

The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes

B. Nacmias, C. Polito, S. Bagnoli, 2023, Cerebellum.

Mutational Landscape of Alzheimer’s Disease and Frontotemporal Dementia: Regional Variances in Northern, Central, and Southern Italy

B. Nacmias, G. Binetti, R. Ghidoni, 2024, International journal of molecular sciences.

MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study

C. Blauwendraat, B. Boeve, M. Murray, 2024, The Lancet Neurology.

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

W. M. van der Flier, D. Grozeva, O. Martinaud, 2022, Genome Medicine.

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

D. Collier, S. Sorbi, B. Nacmias, 2013, Journal of health psychology.

A Pilot Study Evaluating the Contribution of SLC19A1 (RFC-1) 80G>A Polymorphism to Alzheimer's Disease in Italian Caucasians

F. Coppedè, L. Migliore, S. Sorbi, 2014, BioMed research international.

Harnessing topological machine learning in Raman spectroscopy: Perspectives for Alzheimer’s disease detection via cerebrospinal fluid analysis

M. A. Pascali, B. Nacmias, P. Matteini, 2024, Journal of the Franklin Institute.

A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study

S. Ourselin, R. Keren, H. Karnath, 2021, Molecular Neurodegeneration.

Primary Progressive Aphasia in Italian and English: A Cross-Linguistic Cohort Study.

B. Nacmias, S. Bagnoli, V. Bessi, 2024, Neurology.

Role of Blood P-Tau Isoforms (181, 217, 231) in Predicting Conversion from MCI to Dementia Due to Alzheimer’s Disease: A Review and Meta-Analysis

B. Nacmias, F. Guerini, C. Agliardi, 2024, International Journal of Molecular Sciences.