Sandro Sorbi
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Computer Science
Sandro Sorbi's Degrees
- PhD Computer Science University of Florence
- Masters Computer Science University of Florence
- Bachelors Computer Science University of Florence
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(Suggest an Edit or Addition)Sandro Sorbi's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease (1995) (4114)
- Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease (2013) (3484)
- Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene (1995) (2057)
- Common variants in ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease (2011) (1701)
- Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease (2014) (1230)
- The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease (2007) (1112)
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (1073)
- Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and βAPP processing (2000) (958)
- Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders (2019) (724)
- Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) (693)
- Multicenter Standardized 18F-FDG PET Diagnosis of Mild Cognitive Impairment, Alzheimer's Disease, and Other Dementias (2008) (669)
- Cognitive dysfunction in early-onset multiple sclerosis: a reappraisal after 10 years. (2001) (609)
- APOE and Alzheimer disease: a major gene with semi-dominant inheritance (2011) (528)
- EFNS guidelines for the diagnosis and management of Alzheimer’s disease (2010) (486)
- Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14 (1992) (472)
- Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis (2015) (420)
- Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder (1990) (413)
- MCI conversion to dementia and the APOE genotype (2004) (354)
- Decreased pyruvate dehydrogenase complex activity in Huntington and Alzheimer brain (1983) (350)
- Association of early‐onset Alzheimer's disease with an interleukin‐1α gene polymorphism (2000) (347)
- Molecular genetics of Alzheimer’s disease (1993) (346)
- The Rao’s Brief Repeatable Battery and Stroop test: normative values with age, education and gender corrections in an Italian population (2006) (323)
- Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa (2019) (314)
- Neocortical volume decrease in relapsing–remitting MS patients with mild cognitive impairment (2004) (308)
- Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant. (1996) (299)
- Heterogeneity of brain glucose metabolism in mild cognitive impairment and clinical progression to Alzheimer disease. (2005) (271)
- EFNS‐ENS Guidelines on the diagnosis and management of disorders associated with dementia (2012) (267)
- Frontotemporal dementia and its subtypes: a genome-wide association study (2014) (262)
- Hypometabolism exceeds atrophy in presymptomatic early-onset familial Alzheimer's disease. (2006) (259)
- A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats (2012) (254)
- New insights into the genetic etiology of Alzheimer’s disease and related dementias (2022) (246)
- Prevalence of Sleep Disturbances in Mild Cognitive Impairment and Dementing Disorders: A Multicenter Italian Clinical Cross-Sectional Study on 431 Patients (2012) (240)
- Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations. (2004) (236)
- Association of neocortical volume changes with cognitive deterioration in relapsing-remitting multiple sclerosis. (2007) (223)
- Education and occupation as proxies for reserve in aMCI converters and AD (2008) (212)
- Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference (2017) (211)
- Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study (2017) (208)
- Immunoproteasome and LMP2 polymorphism in aged and Alzheimer's disease brains (2006) (200)
- Observing Huntington’s Disease: the European Huntington’s Disease Network’s REGISTRY (2011) (186)
- Orbitofrontal Dysfunction Related to Both Apathy and Disinhibition in Frontotemporal Dementia (2006) (182)
- Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH): a randomised, double-blind, placebo-controlled, phase 3 trial (2018) (176)
- Regional cerebral metabolism in early Alzheimer’s disease with clinically significant apathy or depression (2005) (174)
- Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease (2001) (173)
- Convergent genetic and expression data implicate immunity in Alzheimer's disease (2014) (172)
- Genetics of familial and sporadic Alzheimer's disease. (2013) (166)
- ApoE as a prognostic factor for post–traumatic coma (1995) (160)
- Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity. (1998) (160)
- Meta-analysis of the association between variants in SORL1 and Alzheimer disease. (2011) (159)
- Cognitive impairment predicts conversion to multiple sclerosis in clinically isolated syndromes (2010) (153)
- Oxidative stress and reduced antioxidant defenses in peripheral cells from familial Alzheimer's patients. (2002) (151)
- Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations (2005) (147)
- Anosognosia in Very Mild Alzheimer’s Disease but Not in Mild Cognitive Impairment (2005) (146)
- Presenilin mutations linked to familial Alzheimer's disease reduce endoplasmic reticulum and Golgi apparatus calcium levels. (2006) (144)
- Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study (2018) (139)
- Heterozygous TREM2 mutations in frontotemporal dementia (2014) (139)
- Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder (1996) (136)
- ApoE allele frequencies in Italian sporadic and familial Alzheimer's disease (1994) (134)
- Coping strategies, psychological variables and their relationship with quality of life in multiple sclerosis (2009) (133)
- Association of the estrogen receptor alpha gene polymorphisms with sporadic Alzheimer's disease. (1999) (130)
- Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study (2019) (128)
- A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. (2014) (121)
- Evidence for Sub-Haplogroup H5 of Mitochondrial DNA as a Risk Factor for Late Onset Alzheimer's Disease (2010) (118)
- The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients (2015) (116)
- Epistatic effect of APP717 mutation and apolipoprotein E genotype in familial Alzheimer's disease (1995) (113)
- EFNS task force: the use of neuroimaging in the diagnosis of dementia (2012) (111)
- Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation (2013) (111)
- Non-paraneoplastic limbic encephalitis associated with anti-glutamic acid decarboxylase antibodies (2008) (109)
- Cognitive assessment and quantitative magnetic resonance metrics can help to identify benign multiple sclerosis (2008) (107)
- Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease (2012) (106)
- 5-HT2A promoter polymorphism in anorexia nervosa (1998) (105)
- 5-HT2A receptor gene polymorphisms in anorexia nervosa and bulimia nervosa (1999) (103)
- Gluthatione level is altered in lymphoblasts from patients with familial Alzheimer's disease (1999) (102)
- Rating of the lesions in senile dementia of the Alzheimer type: concordance between laboratories A European multicenter study under the auspices of EURAGE (1990) (102)
- Changes in high affinity choline uptake in rat cortex following lesions of the magnocellular forebrain nuclei (1982) (101)
- Choline acetyltxansferase (CUT) activity Wers in right and left human temporal lobes (1981) (101)
- Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations (2011) (101)
- Association between angiotensin-converting enzyme and Alzheimer disease. (2000) (99)
- Long-Term Adherence to Interferon β Therapy in Relapsing-Remitting Multiple Sclerosis (2007) (99)
- The 5-HT2A −1438G/A polymorphism in anorexia nervosa: a combined analysis of 316 trios from six European centres (2001) (98)
- Changes in Na+,K+-ATPase, Ca2+-ATPase and some soluble enzymes related to energy metabolism in brains of patients with Alzheimer's disease (1990) (98)
- Mutation analysis of CHCHD10 in different neurodegenerative diseases. (2015) (98)
- EFNS‐ENS/EAN Guideline on concomitant use of cholinesterase inhibitors and memantine in moderate to severe Alzheimer's disease (2015) (98)
- Benign multiple sclerosis: cognitive, psychological and social aspects in a clinical cohort. (2006) (97)
- Sleep and Cognitive Decline: A Strong Bidirectional Relationship. It Is Time for Specific Recommendations on Routine Assessment and the Management of Sleep Disorders in Patients with Mild Cognitive Impairment and Dementia (2015) (95)
- Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration (2014) (93)
- Neuropsychological and MRI measures predict short-term evolution in benign multiple sclerosis (2009) (92)
- Benign multiple sclerosis (2006) (91)
- An α-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease (1999) (88)
- Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores (2021) (85)
- Oxidative Stress and a Key Metabolic Enzyme in Alzheimer Brains, Cultured Cells, and an Animal Model of Chronic Oxidative Deficits (1999) (85)
- TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2017) (85)
- Present and lifetime comorbidity of tobacco, alcohol and drug use in eating disorders: a European multicenter study. (2008) (84)
- Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study (2018) (83)
- Brain metabolic decreases related to the dose of the ApoE e4 allele in Alzheimer’s disease (2004) (82)
- Interleukin-1B polymorphism is associated with age at onset of Alzheimer’s disease (2003) (82)
- Low social interactions in eating disorder patients in childhood and adulthood: A multi-centre European case control study (2013) (81)
- Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia. (2018) (81)
- Brain damage as detected by magnetization transfer imaging is less pronounced in benign than in early relapsing multiple sclerosis. (2006) (80)
- Interaction of caudate dopamine depletion and brain metabolic changes with cognitive dysfunction in early Parkinson's disease (2012) (78)
- 5-HT2A receptor gene polymorphism and eating disorders (2002) (77)
- ApoE genotype and familial Alzheimer's disease: a possible influence on age of onset in APP717 Val → Ile mutated families (1995) (76)
- Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia (2020) (75)
- Functional interactions of the entorhinal cortex: an 18F-FDG PET study on normal aging and Alzheimer's disease. (2004) (73)
- Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients. (2014) (71)
- Human longevity and 11p15.5: a study in 1321 centenarians (2009) (69)
- Folate, homocysteine, vitamin B12, and polymorphisms of genes participating in one-carbon metabolism in late-onset Alzheimer's disease patients and healthy controls. (2012) (65)
- Metabolic interaction between ApoE genotype and onset age in Alzheimer’s disease: implications for brain reserve (2004) (65)
- Csf p-tau181/tau ratio as biomarker for TDP pathology in frontotemporal dementia (2015) (65)
- New insights on the genetic etiology of Alzheimer’s and related dementia (2020) (64)
- A comparison of unawareness in frontotemporal dementia and Alzheimer’s disease (2007) (63)
- How can elderly apolipoprotein E ε4 carriers remain free from dementia? (2013) (61)
- Cholesteryl ester transfer protein (CETP) I405V polymorphism and longevity in Italian centenarians (2005) (60)
- 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. (2018) (60)
- Misserise mutation of S182 gene in Italian families with early-onset Alzheimer's disease (1995) (60)
- Spontaneous and induced chromosome damage in somatic cells of sporadic and familial Alzheimer's disease patients. (2001) (59)
- SNPs in neurotrophin system genes and Alzheimer's disease in an Italian population. (2008) (59)
- SAND: a Screening for Aphasia in NeuroDegeneration. Development and normative data (2017) (59)
- White matter hyperintensities are seen only in GRN mutation carriers in the GENFI cohort (2017) (58)
- Alzheimer’s Disease: Role of Size and Location of White Matter Changes in Determining Cognitive Deficits (2005) (57)
- Brain-derived neurotrophic factor, apolipoprotein E genetic variants and cognitive performance in Alzheimer’s disease (2004) (57)
- Impact of cognitive impairment on coping strategies in multiple sclerosis (2010) (56)
- Combined family trio and case‐control analysis of the COMT Val158Met polymorphism in European patients with anorexia nervosa (2004) (56)
- Cathepsin D expression is decreased in Alzheimer's disease fibroblasts (2008) (55)
- The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study. (2010) (55)
- Shared genetic contribution to ischemic stroke and Alzheimer's disease (2016) (55)
- Protection from oxygen radical damage in human diploid fibroblasts by acetyl-L-carnitine (1992) (55)
- An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease. (2011) (55)
- Absence of association between Alzheimer disease and the −491 regulatory region polymorphism of APOE (1998) (54)
- Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study (2019) (53)
- Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease (2017) (53)
- On the multivariate nature of brain metabolic impairment in Alzheimer's disease (2009) (53)
- Abnormal activation of private dehydrogenase in Leigh disease fibroblasts (1982) (52)
- Free D-amino acids in human cerebrospinal fluid of Alzheimer disease, multiple sclerosis, and healthy control subjects. (1994) (52)
- Association between 5-HT2A receptor polymorphism and psychotic symptoms in Alzheimer’s disease (2001) (51)
- Education and occupation provide reserve in both ApoE ε4 carrier and noncarrier patients with probable Alzheimer’s disease (2012) (51)
- Mutant Presenilin 1 Increases the Expression and Activity of BACE1* (2009) (50)
- Identification of new presenilin gene mutations in early-onset familial Alzheimer disease. (2003) (50)
- The C677T methylenetetrahydrofolate reductase mutation is not associated with Alzheimer's disease (2001) (50)
- Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease. (1998) (50)
- Novel S-acyl glutathione derivatives prevent amyloid oxidative stress and cholinergic dysfunction in Alzheimer disease models. (2012) (50)
- Influence of Apolipoprotein E ϵ4 Genotype on Brain Tissue Integrity in Relapsing-Remitting Multiple Sclerosis (2004) (50)
- Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific manner (2008) (49)
- KIBRA gene variants are associated with episodic memory performance in subjective memory complaints (2008) (49)
- Rethinking on the concept of biomarkers in preclinical Alzheimer’s disease (2016) (49)
- Increased susceptibility to amyloid toxicity in familial Alzheimer's fibroblasts (2007) (48)
- Brain networks underlying the clinical effects of long-term subthalamic stimulation for Parkinson's disease: a 4-year follow-up study with rCBF SPECT. (2005) (48)
- A short version of Rao's Brief Repeatable Battery as a screening tool for cognitive impairment in multiple sclerosis (2009) (47)
- Case-control and combined family trios analysis of three polymorphisms in the ghrelin gene in European patients with anorexia and bulimia nervosa. (2006) (47)
- Implication of sex and SORL1 variants in italian patients with Alzheimer disease. (2009) (47)
- Effects of Donepezil,Galantamine and Rivastigmine in 938 Italian Patients with Alzheimer’s Disease (2010) (47)
- Lipid rafts mediate amyloid-induced calcium dyshomeostasis and oxidative stress in Alzheimer's disease. (2013) (46)
- Development of human striatal anlagen after transplantation in a patient with Huntington's disease (2008) (46)
- Fat mass and obesity-associated gene (FTO) is associated to eating disorders susceptibility and moderates the expression of psychopathological traits (2017) (46)
- Cognitive reserve and TMEM106B genotype modulate brain damage in presymptomatic frontotemporal dementia: a GENFI study (2017) (46)
- Mutations in the open reading frame of the β-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease (2001) (45)
- No association between bipolar disorder and alleles at a functional polymorphism in the COMT gene (1997) (45)
- Brain‐derived neurotrophic factor genetic variants are not susceptibility factors to Alzheimer's disease in Italy (2004) (45)
- The dual role of cognitive reserve in subjective cognitive decline and mild cognitive impairment: a 7-year follow-up study (2019) (44)
- Choline acetyltransferase (ChAT) activity differs in right and left human temporal lobes. (1981) (44)
- Psychopathological traits and 5-HT2A receptor promoter polymorphism (−1438 G/A) in patients suffering from Anorexia Nervosa and Bulimia Nervosa (2004) (43)
- Up-regulation of Glycohydrolases in Alzheimer's Disease Fibroblasts Correlates with Ras Activation* (2003) (43)
- Neuropathological and Clinical Phenotype of an Italian Alzheimer Family with M239V Mutation of Presenilin 2 Gene (2004) (43)
- Comparison of arterial spin labeling registration strategies in the multi‐center GENetic frontotemporal dementia initiative (GENFI) (2018) (43)
- Guidelines for the diagnosis of dementia and Alzheimer's disease (2000) (43)
- The SIRT2 polymorphism rs10410544 and risk of Alzheimer’s disease in two Caucasian case–control cohorts (2013) (42)
- Neutrophils CD11b and fibroblasts PGE2 are elevated in Alzheimer’s disease (2002) (42)
- Protein tyrosine phosphatase receptor-type C exon 4 gene mutation distribution in an Italian multiple sclerosis population (2002) (42)
- APP717 and Alzheimer's disease in Italy (1993) (42)
- Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders. (2008) (41)
- Growth properties and growth factor responsiveness in skin fibroblasts from centenarians. (1998) (41)
- Age and ApoE genotype interaction in Alzheimer's disease: an FDG-PET study (2004) (41)
- Association of IL10 promoter polymorphism in Italian Alzheimer's disease (2007) (40)
- Membrane cholesterol enrichment prevents Aβ-induced oxidative stress in Alzheimer's fibroblasts (2011) (40)
- Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2020) (40)
- 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 (2012) (40)
- Lipid rafts are primary mediators of amyloid oxidative attack on plasma membrane (2010) (39)
- Stimulation of glycolytic key enzymes in cerebral cortex by insulin. (1993) (39)
- Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross‐sectional diffusion tensor imaging study (2018) (39)
- Association of apolipoprotein E polymorphism to clinical heterogeneity of multiple sclerosis (2000) (39)
- Worldwide distribution of PSEN1 Met146Leu mutation (2010) (39)
- Association between bleomycin hydrolase and Alzheimer's disease in caucasians (1998) (39)
- Monomeric ß-amyloid interacts with type-1 insulin-like growth factor receptors to provide energy supply to neurons (2015) (38)
- Brain metabolic correlates of dopaminergic degeneration in de novo idiopathic Parkinson’s disease (2010) (38)
- APOE −491 promoter polymorphism is a risk factor for late-onset Alzheimer’s disease (1999) (38)
- An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease. (1999) (38)
- Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches (2019) (37)
- Glucocorticoid receptor gene polymorphisms in Italian patients with eating disorders and obesity (2010) (37)
- Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study (2015) (37)
- Neocortical volume decrease in relapsing–remitting multiple sclerosis with mild cognitive impairment (2006) (37)
- Safety and tolerability of cyclophosphamide ‘pulses’ in multiple sclerosis: a prospective study in a clinical cohort (2003) (37)
- Mutation analysis of patients with neurodegenerative disorders using NeuroX array (2015) (37)
- Monitoring Neuro-Motor Recovery From Stroke With High-Resolution EEG, Robotics and Virtual Reality: A Proof of Concept (2015) (36)
- Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing (2018) (36)
- The complexity of Alzheimer's disease: an evolving puzzle. (2021) (35)
- Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study (2019) (35)
- Apolipoprotein E and α1‐antichymotrypsin polymorphism in Alzheimer's disease (1996) (35)
- Association between serotonin transporter gene polymorphism and eating disorders outcome: A 6‐year follow‐up study (2012) (34)
- Distinct Neuroanatomical Correlates of Neuropsychiatric Symptoms in the Three Main Forms of Genetic Frontotemporal Dementia in the GENFI Cohort (2018) (34)
- Apolipoprotein E in sporadic and familial Creutzfeldt-Jakob disease (1995) (34)
- Early structural changes in individuals at risk of familial Alzheimer’s disease: a volumetry and magnetization transfer MR imaging study (2009) (34)
- Human iPSC-Derived Hippocampal Spheroids: An Innovative Tool for Stratifying Alzheimer Disease Patient-Specific Cellular Phenotypes and Developing Therapies (2020) (34)
- Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy. (2001) (34)
- Association analysis of the paraoxonase-1 gene with Alzheimer's disease (2006) (34)
- Genetic risk factors in familial Alzheimer's disease (2001) (33)
- Operationalizing mild cognitive impairment criteria in small vessel disease: the VMCI-Tuscany Study (2016) (33)
- Recommendations from the Italian Interdisciplinary Working Group (AIMN, AIP, SINDEM) for the utilization of amyloid imaging in clinical practice (2015) (33)
- c-fos/c-jun expression and AP-1 activation in skin fibroblasts from centenarians. (1996) (33)
- Differences in Extracellular Matrix Production and Basic Fibroblast Growth Factor Response in Skin Fibroblasts from Sporadic and Familial Alzheimer’s Disease (2007) (33)
- Alzheimer's Disease Progression: Factors Influencing Cognitive Decline. (2017) (33)
- Double-Blind, Crossover, Placebo-Controlled Clinical Trial with L-Acetylcarnitine in Patients with Degenerative Cerebellar Ataxia (2000) (32)
- Protective effect of new S-acylglutathione derivatives against amyloid-induced oxidative stress. (2008) (32)
- Semantic dementia associated with mutation V363I in the tau gene (2010) (32)
- Pattern and Progression of Cognitive Decline in Alzheimer’s Disease: Role of Premorbid Intelligence and ApoE Genotype (2007) (32)
- Anti‐ganglioside antibodies and elevated CSF IgG levels in Guillain‐Barré syndrome (2006) (32)
- HLA A2 allele is associated with age at onset of Alzheimer's disease (1999) (32)
- The contribution of cerebrospinal fluid oligoclonal bands to the early diagnosis of multiple sclerosis (2009) (32)
- Associations of individual and family eating patterns during childhood and early adolescence: a multicentre European study of associated eating disorder factors (2008) (32)
- Abnormal platelet glutamate dehydrogenase activity and activation in dominant and nondominant olivopontocerebellar atrophy (1986) (31)
- Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia (2019) (31)
- Distinct patterns of brain atrophy in Genetic Frontotemporal Dementia Initiative (GENFI) cohort revealed by visual rating scales (2018) (31)
- Clinical and genetic study of a large SPG4 Italian family (2005) (31)
- Response to interferon-beta therapy in relapsing-remitting multiple sclerosis: a comparison of different clinical criteria (2006) (31)
- Nonmotor Symptoms of Parkinson's Disease (2017) (31)
- Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia (2021) (30)
- A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers (2018) (30)
- A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers (2018) (30)
- Brain functional network integrity sustains cognitive function despite atrophy in presymptomatic genetic frontotemporal dementia (2019) (30)
- Tomm40 polymorphisms in Italian Alzheimer’s disease and frontotemporal dementia patients (2013) (30)
- Inherent abnormalities in oxidative metabolism in Alzheimer's disease: interaction with vascular abnormalities. (1997) (29)
- Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2017) (29)
- Intravenous mitoxantrone and cyclophosphamide as second-line therapy in multiple sclerosis: An open-label comparative study of efficacy and safety (2008) (29)
- Brain metabolic differences between sporadic and familial Alzheimer’s disease (2003) (29)
- Angiotensin converting enzyme insertion/deletion polymorphism in sporadic and familial Alzheimer's disease and longevity (2007) (28)
- Presenilin-1 gene intronic polymorphism in sporadic and familial Azheimer's disease (1997) (28)
- Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease. (1995) (27)
- DNMT3B promoter polymorphisms and risk of late onset Alzheimer's disease. (2012) (27)
- Influence of apolipoprotein E epsilon4 genotype on brain tissue integrity in relapsing-remitting multiple sclerosis. (2004) (27)
- Which target for DBS in Parkinson's disease? Subthalamic nucleus versus globus pallidus internus (2001) (27)
- Recommendations of the Sleep Study Group of the Italian Dementia Research Association (SINDem) on clinical assessment and management of sleep disorders in individuals with mild cognitive impairment and dementia: a clinical review (2014) (27)
- Higher uric acid serum levels are associated with better muscle function in the oldest old: Results from the Mugello Study. (2017) (26)
- Epigenetic modifications in Alzheimer's disease: cause or effect? (2014) (26)
- Plasma Neurofilament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration (2021) (26)
- Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease (2019) (26)
- Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (26)
- Differential early subcortical involvement in genetic FTD within the GENFI cohort (2021) (26)
- Alzheimer's Disease and Apolipoprotein E in Italy a (1996) (26)
- Whole-genome sequencing analysis of semi-supercentenarians (2021) (25)
- Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges (2018) (25)
- Provisional clinical and neuroradiological criteria for the diagnosis of Pick's disease (1998) (25)
- Choline High‐Affinity Uptake and Metabolism and Choline Acetyltransferase Activity in the Striatum of Rats Chronically Treated with Neuroleptics (1980) (25)
- Implication of GAB2 gene polymorphism in Italian patients with Alzheimer's disease. (2009) (25)
- Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease (2002) (24)
- Use of Phosphatidylserine in Alzheimer's Disease (1991) (24)
- Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease (2006) (24)
- Altered hexokinase activity in skin cultured fibroblasts and leukocytes from Alzheimer's disease patients (1990) (24)
- White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study (2019) (24)
- NMDA receptor gene variations as modifiers in Huntington disease: a replication study (2011) (24)
- Spectrophotometric measurement of pyruvate dehydrogenase complex activity in cultured human fibroblasts. (1981) (23)
- Autologous hematopoietic stem cell transplantation for very active relapsing-remitting multiple sclerosis: report of two cases (2007) (23)
- Fragile X premutation with atypical symptoms at onset. (2006) (23)
- Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease (2019) (23)
- Alterations in Metabolic Properties in Fibroblasts in Alzheimer Disease (1995) (23)
- APOE-ε4 is not associated with cognitive impairment in relapsing—remitting multiple sclerosis (2009) (23)
- Meta-analysis of the Association Between Variants in SORL 1 and Alzheimer Disease (2011) (23)
- No implication of apolipoprotein E polymorphism in Italian schizophrenic patients (1998) (23)
- Interobserver agreement on Poser’s and the new McDonald’s diagnostic criteria for multiple sclerosis (2003) (23)
- Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes (2020) (22)
- Raman profiling of circulating extracellular vesicles for the stratification of Parkinson's patients. (2019) (22)
- Mitochondria and Alzheimer's disease (2012) (22)
- Toward the Validation of Functional Neuroimaging as a Potential Biomarker for Alzheimer’s Disease: Implications for Drug Development (2005) (22)
- Hypermethylation of the CpG-island near the C 9 orf 72 G 4 C 2-repeat expansion in FTLD patients (2014) (22)
- Rare Variants in PLD3 Do Not Affect Risk for Early‐Onset Alzheimer Disease in a European Consortium Cohort (2015) (22)
- Cognitive and Affective Changes in Mild to Moderate Alzheimer’s Disease Patients Undergoing Switch of Cholinesterase Inhibitors: A 6-Month Observational Study (2014) (22)
- Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease (2012) (22)
- Reliability of administrative data for the identification of Parkinson’s disease cohorts (2015) (22)
- A genome-wide association meta-analysis identifies a novel locus at 17 q 11 . 2 associated with sporadic amyotrophic lateral sclerosis (2014) (21)
- Occurrence of transketolase abnormalities in extracts of foreskin fibroblasts from patients with Alzheimer's disease. (1990) (21)
- Mediterranean Diet, Food Consumption and Risk of Late-Life Depression: The Mugello Study (2018) (21)
- Gender Differences in Neuropsychiatric Symptoms in Mild to Moderate Alzheimer's Disease Patients Undergoing Switch of Cholinesterase Inhibitors: A Post Hoc Analysis of the EVOLUTION Study (2018) (21)
- Metabolic correlates of executive dysfunction. Different patterns in mild and very mild Alzheimer's disease. (2007) (21)
- Lack of association between TNF-α polymorphisms and Alzheimer’s disease in an Italian cohort (2008) (21)
- Free Radical Injury in Skin Cultured Fibroblasts from Alzheimer's Disease Patients (1992) (21)
- Education modulates brain maintenance in presymptomatic frontotemporal dementia (2019) (21)
- 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 (2019) (20)
- Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies (2019) (20)
- Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia (2018) (20)
- Analysis of the c‐FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease (1993) (20)
- Implication of a genetic variant at PICALM in Alzheimer’s disease patients and centenarians. (2011) (20)
- Alteration of acylphosphatase levels in familial Alzheimer's disease fibroblasts with presenilin gene mutations (1996) (20)
- Association study of the 5-hydroxytryptamine6 receptor gene in Alzheimer's disease (2002) (20)
- Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration (2020) (20)
- Imaging and Cognitive Reserve Studies Predict Dementia in Presymptomatic Alzheimer's Disease Subjects (2013) (20)
- Insulin degrading enzyme and alpha-3 catenin polymorphisms in Italian patients with Alzheimer disease. (2005) (19)
- The first Alzheimer disease case: a metachromatic leukodystrophy? (1991) (19)
- Impact of demography and population dynamics on the genetic architecture of human longevity (2018) (19)
- Validation of the Guidelines for the Diagnosis of Dementia and Alzheimer’s Disease of the Italian Neurological Society. Study in 72 Italian neurological centres and 1549 patients (2004) (19)
- Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol. (2016) (19)
- Growth properties of familial alzheimer skin fibroblasts during in vitro aging (1992) (18)
- A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. (2002) (18)
- Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis (2012) (18)
- Lack of association between NOS3 polymorphism and Italian sporadic and familial Alzheimer's disease (2002) (18)
- Alzheimer skin fibroblasts show increased susceptibility to free radicals (1992) (18)
- Specific Silencing of L392V PSEN1 Mutant Allele by RNA Interference (2011) (18)
- Fibroblasts from FAD-linked presenilin 1 mutations display a normal unfolded protein response but overproduce Aβ42 in response to tunicamycin (2004) (18)
- Lack of implication for CALHM1 P86L common variation in Italian patients with early and late onset Alzheimer's disease. (2010) (18)
- Abnormalities of mitochondrial enzymes in hereditary ataxias (1989) (18)
- Alternative normalization methods demonstrate widespread cortical hypometabolism in untreated de novo Parkinson's disease. (2012) (17)
- Implication of serotonin-transporter (5-HTT) gene polymorphism in subjective memory complaints and mild cognitive impairment (MCI). (2011) (17)
- Complex repetitive behavior: punding after bilateral subthalamic nucleus stimulation in Parkinson's disease. (2010) (17)
- A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia (2021) (17)
- with sporadic amyotrophic lateral sclerosis (2013) (17)
- A new social-family model for eating disorders: A European multicentre project using a case–control design (2015) (17)
- PET study in subjects from two Italian FAD families with APP717 Val to Ileu mutation (1997) (17)
- No Association Between the LRRK2 G2019S Mutation and Alzheimer’s disease in Italy (2007) (17)
- Genetics of Alzheimer's Disease and Frontotemporal Dementia. (2014) (17)
- Ventricular volume expansion in presymptomatic genetic frontotemporal dementia (2019) (16)
- Codon 129 polymorphism of prion protein gene in sporadic Alzheimer’s disease (2008) (16)
- Mild cognitive impairment (2009) (16)
- Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease‐like and ataxia (2004) (16)
- Analysis of apolipoprotein E, α1-antichymotrypsin and presenilin-1 genes polymorphisms in dementia caused by normal pressure hydrocephalus in man (1997) (15)
- Ataxia-telangiectasia mutated (ATM) genetic variant in Italian centenarians (2013) (15)
- Music and cerebral hemodynamics (2000) (15)
- Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia (2019) (15)
- Effect of phosphatidylserine on free radical susceptibility in human diploid fibroblasts (1993) (15)
- SIRT1 accelerates the progression of activity-based anorexia (2020) (15)
- Implication of α1-antichymotrypsin polymorphism in familial Alzheimer's disease (1998) (15)
- Risperidone in idiopathic and symptomatic dystonia: preliminary experience (2000) (15)
- Faster Cortical Thinning and Surface Area Loss in Presymptomatic and Symptomatic C9orf72 Repeat Expansion Adult Carriers (2020) (15)
- ApolipoproteinE epsilon 4 allele is not associated with disease course and severity in multiple sclerosis (2009) (15)
- α2-Macroglobulin polymorphisms in Italian sporadic and familial Alzheimer's disease (2001) (15)
- Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease. (2010) (15)
- Osteoporosis and Parkinson's disease. (2011) (15)
- Switching to Second-Line Therapies in Interferon-Beta-Treated Relapsing-Remitting Multiple Sclerosis Patients (2009) (14)
- PRNP P39L Variant is a Rare Cause of Frontotemporal Dementia in Italian Population. (2016) (14)
- Metabolic correlates of executive dysfunction (2007) (14)
- The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family (2017) (14)
- Magnetic resonance imaging in Alzheimer's disease: from diagnosis to monitoring treatment effect. (2012) (14)
- The diagnosis of dementias: a practical tool not to miss rare causes (2018) (13)
- Italian Neurological Society guidelines for the diagnosis of dementia: revision I (2004) (13)
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- Testing for Linkage and Association Across the Dihydrolipoyl Dehydrogenase Gene Region with Alzheimer’s Disease in Three Sample Populations (2007) (13)
- Screening for Aphasia in NeuroDegeneration for the Diagnosis of Patients with Primary Progressive Aphasia: Clinical Validity and Psychometric Properties (2018) (13)
- No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients (2018) (13)
- Mutational screening analysis of DHCR24/seladin‐1 gene in Italian familial Alzheimer's disease (2008) (12)
- RNA interference in silencing of genes of Alzheimer's disease in cellular and rat brain models. (2008) (12)
- A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene (1992) (12)
- Cystatin C and apoe polymorphisms in Italian Alzheimer's disease (2006) (12)
- Daytime course of sleepiness in de novo Parkinson's disease patients (2013) (12)
- Progranulin Genetic Screening in Frontotemporal Lobar Degeneration Patients From Central Italy (2011) (11)
- Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study (2021) (11)
- Novel GRN Mutations in Alzheimer's Disease and Frontotemporal Lobar Degeneration. (2018) (11)
- Multicenter Study on Sleep and Circadian Alterations as Objective Markers of Mild Cognitive Impairment and Alzheimer's Disease Reveals Sex Differences. (2020) (11)
- Characterizing the Clinical Features and Atrophy Patterns of MAPT-Related Frontotemporal Dementia With Disease Progression Modeling (2021) (11)
- Association between 5-HT2A receptor polymorphism and psychotic symptoms in Alzheimer's disease (2000) (11)
- Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population (2003) (11)
- GAD antibodies associated neurological disorders: Incidence and phenotype distribution among neurological inflammatory diseases (2010) (11)
- Are there adaptive changes in the human brain of patients with Parkinson’s disease treated with long-term deep brain stimulation of the subthalamic nucleus? A 4-year follow-up study with regional cerebral blood flow SPECT (2006) (11)
- IgM monoclonal gammopathy–associated neuropathies with different IgM specificity (2011) (11)
- Association studies between the plasmin genes and late-onset Alzheimer's disease (2007) (11)
- Neural correlates of naming errors across different neurodegenerative diseases (2020) (10)
- Atypical Friedreich ataxia with a very late onset and an unusual limited GAA repeat. (2000) (10)
- Assessing the effectiveness of subjective cognitive decline plus criteria in predicting the progression to Alzheimer’s disease: an 11‐year follow‐up study (2020) (10)
- Association of the variant Cys139Arg at GRN gene to the clinical spectrum of frontotemporal lobar degeneration. (2014) (10)
- The Brain-Derived Neurotrophic Factor Val66Met Polymorphism Can Protect Against Cognitive Impairment in Multiple Sclerosis (2021) (10)
- Clinical and genetic analysis of hereditary and sporadic ataxia in central Italy (2001) (10)
- Erratum: Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease (Molecular Psychiatry (2013) 18 (521) DOI: 10.1038/mp.2012.75)) (2013) (10)
- Primary Progressive Aphasia: Natural History in an Italian Cohort (2019) (10)
- Kitten Scanner reduces the use of sedation in pediatric MRI (2018) (10)
- Energy metabolism in demented brain (1986) (10)
- Are Premorbid Personality Traits Linked to the Risk of Alzheimer’s Disease? (2000) (10)
- Genetic Heterogeneity of Alzheimer’s Disease: Embracing Research Partnerships (2017) (10)
- Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients. (2010) (10)
- A systematic review of the quality of studies on dementia prevalence in Italy (2016) (9)
- Effect of BDNF Val66Met polymorphism on hippocampal subfields in multiple sclerosis patients (2021) (9)
- Suitability of neuropsychological tests in patients with vascular dementia (VaD) (2012) (9)
- Analysis of Feasibility, Adherence, and Appreciation of a Newly Developed Tele-Rehabilitation Program for People With MCI and VCI (2020) (9)
- Changes in pyruvate dehydrogenase complex (PDHc) activity and [3H]QNB-receptor binding in rat brain subsequent to intracerebroventricular injection of bromopyruvate (1990) (9)
- Clinical correlation of the binding potential with 123I-FP-CIT in de novo idiopathic Parkinson’s disease patients (2008) (9)
- The urokinase-plasminogen activator (PLAU) gene is not associated with late onset Alzheimer’s disease (2005) (8)
- Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes (2021) (8)
- Anti-MAG IgM: differences in antibody tests and correlation with clinical findings (2019) (8)
- 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 (2020) (8)
- Cerebral soluble ubiquitin is increased in patients with Alzheimer's disease (1993) (8)
- Gender differences in cognitive reserve: implication for subjective cognitive decline in women (2021) (8)
- Alpha1 antichymotrypsin signal peptide polymorphism in sporadic Creutzfeldt–Jakob disease (1997) (8)
- Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study (2021) (8)
- Connected Speech Deficit as an Early Hallmark of CSF-defined Alzheimer's Disease and Correlation with Cerebral Hypoperfusion Pattern. (2019) (8)
- The urokinase-plasminogen activator (PLAU) gene is not associated with late onset Alzheimer’s disease (2005) (8)
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- Different implication of NEDD9 genetic variant in early and late-onset Alzheimer's disease (2010) (7)
- Disease-related cortical thinning in presymptomatic granulin mutation carriers (2020) (7)
- Fibroblasts from PS1 mutated pre-symptomatic subjects and Alzheimer's disease patients share a unique protein levels profile. (2010) (7)
- Network structure and transcriptomic vulnerability shape atrophy in frontotemporal dementia (2022) (7)
- Italian Frontotemporal Dementia Network (FTD Group-SINDEM): sharing clinical and diagnostic procedures in Frontotemporal Dementia in Italy (2015) (7)
- MRI data-driven algorithm for the diagnosis of behavioural variant frontotemporal dementia (2021) (7)
- Acute Symptomatic Sinus Bradycardia in High-Dose Methylprednisolone Therapy in a Woman With Inflammatory Myelitis: A Case Report and Review of the Literature (2019) (7)
- The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort (2021) (7)
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- Contribution of Bilingualism to Cognitive Reserve of an Italian Literature Professor at High Risk for Alzheimer's Disease. (2018) (7)
- 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 (2021) (6)
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- Tissue banking and EURAGE (1989) (5)
- Molecular Genetic Evidence for Etiologic Heterogeneity of Alzheimer’s Disease (1992) (5)
- Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort (2021) (5)
- Crossed aphasia in nonfluent variant of primary progressive aphasia carrying a GRN mutation (2018) (5)
- Biological markers in Alzheimer's disease (1992) (5)
- Lack of efficacy of phosphatidylcholine in ataxias (1988) (5)
- Alzheimer's disease: phenotypes and genotypes. (1997) (5)
- Matching Clinical Diagnosis and Amyloid Biomarkers in Alzheimer’s Disease and Frontotemporal Dementia (2021) (5)
- Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease (2022) (5)
- Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees (2000) (5)
- Exome sequencing identifies rare damaging variants in the ATP8B4 and ABCA1 genes as novel risk factors for Alzheimer’s Disease (2020) (5)
- Lesions of the Globus Pallidus: Changes in Cortical Choline Acetyltransferase, Choline Uptake and Acetylcholine Output in the Rat (1981) (4)
- C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts (2020) (4)
- Temporal order of clinical and biomarker changes in familial frontotemporal dementia (2022) (4)
- 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. (2021) (4)
- Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia (2022) (4)
- Repetitive Transcranial Magnetic Stimulation (rTMS) of Dorsolateral Prefrontal Cortex May Influence Semantic Fluency and Functional Connectivity in Fronto-Parietal Network in Mild Cognitive Impairment (MCI) (2022) (4)
- Global network structure and local transcriptomic vulnerability shape atrophy in sporadic and genetic behavioral variant frontotemporal dementia (2021) (4)
- Phospholipid composition and levels are not altered in fibroblasts bearing presenilin-1 mutations (2000) (4)
- Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer’s disease (2016) (4)
- Low Florbetapir PET Uptake and Normal Aβ1-42 Cerebrospinal Fluid in an APP Ala713Thr Mutation Carrier. (2017) (4)
- Frequency of the Chromosome 9 C9ORF72 Hexanucleotide Repeats in Italian Patients with Frontotemporal Lobar Degeneration (2012) (4)
- A systematic review of the quality of studies on dementia prevalence in Italy (2016) (4)
- 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 (2016) (4)
- Linguistic profiles, brain metabolic patterns and rates of amyloid-β biomarker positivity in patients with mixed primary progressive aphasia (2020) (4)
- Advances in imaging-genetic relationships for Alzheimer's disease: clinical implications. (2014) (4)
- Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study (2022) (3)
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- Unravelling neural correlates of empathy deficits in Subjective Cognitive Decline, Mild Cognitive Impairment and Alzheimer’s Disease (2022) (3)
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- Plasma neurofilament light chain as a biomarker of Alzheimer’s disease in Subjective Cognitive Decline and Mild Cognitive Impairment (2022) (3)
- Common Genetic Variation and Age of Onset of Anorexia Nervosa (2021) (3)
- Polyneuropathy and monoclonal gammopathy of undetermined significance (MGUS); update of a clinical experience (2021) (3)
- Absence of APP713 mutation in italian and Russian families with schizophrenia (1994) (3)
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- Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis (2020) (3)
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- SYMPTOM ONSET IN GENETIC FRONTOTEMPORAL DEMENTIA (2017) (3)
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- Dissemination in time and space in presymptomatic granulin mutation carriers: a GENFI spatial chronnectome study (2021) (3)
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- Lack of association between NOS3 poly morphism and Italian sporadic and familial Alzheimer's disease. (2002) (3)
- Dual Effect of PER2 C111G Polymorphism on Cognitive Functions across Progression from Subjective Cognitive Decline to Mild Cognitive Impairment (2021) (2)
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- Clinical Aspects of Familial Forms of Alzheimer’s Disease (1992) (2)
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- Cerebral metabolic rate of glucose quantification with the aortic image-derived input function and Patlak method: numerical and patient data evaluation (2016) (2)
- Brain Glucose Metabolism: Age, Alzheimer’s Disease, and ApoE Allele Effects (2009) (2)
- Lactate production and glycolytic enzymes in sporadic and familial Alzheimer’s disease (1989) (2)
- Frequency and Longitudinal Course of Motor Signs in Genetic Frontotemporal Dementia (2022) (2)
- Clinical and neuroimaging profiles to identify C9orf72‐FTD patients and serum Neurofilament to monitor the progression and the severity of the disease (2019) (2)
- Clinical and genetic analysis of an Italian family with Machado-Joseph disease (2001) (2)
- GENFI - The GENetic Frontotemporal dementia Initiative (2012) (2)
- 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 (2022) (2)
- Bilateral isolated facial palsy with fast recovery in infectious mononucleosis (2017) (2)
- Alzheimer’s Disease CSF Biomarker Profiles in Idiopathic Normal Pressure Hydrocephalus (2022) (2)
- Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis (2000) (2)
- Early functional MRI changes in a prodromal semantic variant of primary progressive aphasia: a longitudinal case report (2020) (2)
- Senile Dementias: An Overview (1987) (2)
- Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2018) (2)
- Molecular genetics of Alzheimer's disease in Italian families (1994) (2)
- Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer’s disease (2021) (2)
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- Mitochondrial Abnormalities in Hereditary Ataxias (1992) (1)
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- ENZYMES OF ENERGY METABOLISM IN DEMENTED BRAIN (1984) (1)
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- In Memory of Luigi Amaducci, MD (1932-1998) (1998) (1)
- INTERNATIONAL VIEWS RESEARCH ON ALZHEIMER DISEASE IN ITALY: PRESENT AND PROSPECTS (1988) (1)
- MULTIPLE DISTINCT ATROPHY PATTERNS FOUND IN GENETIC FRONTOTEMPORAL DEMENTIA USING SUBTYPE AND STAGE INFERENCE (SUSTAIN) (2017) (1)
- Intermediate alleles of HTT: A new pathway in longevity (2022) (1)
- Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease (2018) (0)
- 785 Familial Alzheimer's disease fibroblasts with presenilin genes mutations: Alteration'of Acylphosphatase levels (1996) (0)
- Linkage of a novel FAD locus to chromosome-14q (1993) (0)
- Linkage Analysis in Italian Pedigrees with Autosomal Dominant Familial Alzheimer’s Disease (1991) (0)
- Plasma p-tau181 as a promising non-invasive biomarker of Alzheimer’s Disease pathology in Subjective Cognitive Decline. (P7-6.001) (2023) (0)
- Lactate production and glycolytic enzymes in sporadic and familial Alzheimer's disease (1989) (0)
- P2-314 Hypometabolism precedes volume loss in presymptomatic individuals with early-onset familial Alzheimer’s disease (2006) (0)
- P2-051 Cathepsin D, B and L are down-regulated in fibroblasts from Alzheimer’s disease patients (2006) (0)
- Dramatic Reduction of Microemboli after Heparin Infusion in Progressing Stroke due to Aortic Arch Atheroma (2007) (0)
- P4-186 Regulation of lysosomal enzymes expression in fibroblasts from Alzheimer's disease patients (2004) (0)
- Connected speech deficit as an early hallmark of CSF-defined Alzheimer's disease and correlation with cerebral hypoperfusion pattern (2021) (0)
- Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort (2023) (0)
- A psychosocial risk factor model for female eating disorders: a European multicentre project (2014) (0)
- Contents Vol. 69, 2000 (2000) (0)
- P3-393 Familial Alzheimer’s disease presenilin mutants reduce calcium levels of intracellular stores. A critical reevaluation of the “calcium overload” hypothesis (2006) (0)
- Plasma neurofilament light chain as a useful biomarker in prodromal phases of Alzheimer's disease (2021) (0)
- Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia. (2022) (0)
- Mild cognitive impairment: altered functional connectivity between language and hand motor areas (2008) (0)
- O2-02-06 Results of fine mapping of a late-onset Alzheimer disease locus on chromosome 12: Linkage and association studies (2006) (0)
- Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores (2023) (0)
- DISRUPTION OF MEMBRANE INTEGRITY AND CALCIUM HOMEOSTASIS DYSREGULATION ARE LIPID RAFT-MEDIATED PROCESSES IN ALZHEIMER ' S FIBROBLASTS (2011) (0)
- Cerebral amyloid load determination in a clinical setting: interpretation of amyloid biomarker discordances aided by tau and neurodegeneration measurements (2021) (0)
- Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia (2021) (0)
- Contents Vol. 20, 2005 (2005) (0)
- Multivariate analysis of cognitive profiles in Alzheimer's disease (2009) (0)
- FRONTO-SUBCORTICAL HYPOPERFUSION IN PRESYMPTOMATIC FTD IS ASSOCIATED WITH BEHAVIORAL MEASURES, BUT NOT COGNITIVE DEFICITS: THE GENFI STUDY (2017) (0)
- Subject Index Vol. 19, 2005 (2005) (0)
- Glucocorticoid Receptor Gene Polymorphisms in Italian Patients with Anorexia and Bulimia Nervosa (2009) (0)
- Contents Vol. 19, 2005 (2005) (0)
- Research on Alzheimer disease in Italy (1988) (0)
- Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort: comparison with sporadic primary progressive aphasia (2023) (0)
- Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (2020) (0)
- P 1464 COMPARISON OF PERIPAPILLARY RETINAL NERVE FIBER LAYER THICKNESS IN PATIENTS WITH PARKINSON ’ S DISEASE ; CARRIERS AND NON-CARRIERS OF MUTATIONS IN THE LRRK 2 OR GBA GENES (2011) (0)
- Expression of Acidic Glycohydrolases in Alzheimer’s disease fibroblasts (2001) (0)
- FDG PET in the differential diagnosis of degenerative parkinsonian disorders: usefulness of voxel-based analysis in clinical practice (2022) (0)
- Apolipoprotein E polymorphism in italian early onset familial and sporadic Alzheimer's disease (1994) (0)
- OP-BRAI180237 2895..2907 (2018) (0)
- TITLE PAGE Title: Faster Cortical Thinning and Surface Area Loss in Presymptomatic and Symptomatic C9orf72 Repeat Expansion Adult Carriers Running head: Cortical thinning in C9orf72 expansion carriers (2020) (0)
- Distinct patterns of brain atrophy in Genetic Frontotemporal Dementia Initiative (GENFI) cohort revealed by visual rating scales (2018) (0)
- THE effect of trinucleotide repeats in the HTT gene on the progression from subjective cognitive decline to mild cognitive impairment: A 12 years follow-up study (2021) (0)
- Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers. (2022) (0)
- Subject Index Vol. 20, 2005 (2005) (0)
- PRESYMPTOMATIC WHITE MATTER INTEGRITY LOSS IN FAMILIAL FRONTOTEMPORAL DEMENTIA IN THE GENETIC FRONTOTEMPORAL DEMENTIA INITIATIVE (GENFI) COHORT: A MULTI-CENTRE, CROSS-SECTIONAL, DIFFUSION TENSOR IMAGING STUDY (2017) (0)
- Wednesday, March 14, 2007 (2007) (0)
- Corrigendum : Cerebral perfusion changes in presymptomaticgenetic frontotemporal dementia: a GENFIstudy (Brain (2019) DOI: 10.1093/brain/awz039) (2019) (0)
- Beyond impairment of language: empathy deficit in logopenic variant of Primary Progressive Aphasia (P5-6.002) (2023) (0)
- Distinct patterns of brain atrophy in genetic frontotemporal dementia: visual rating scales in the GENFI cohort (2016) (0)
- Fragile X Syndrome vs Fragile X–Associated Tremor/Ataxia Syndrome—Reply (2007) (0)
- ITALIAN NETWORK FOR AUTOSOMAL DOMINANT ALZHEIMER'S DISEASE AND FRONTOTEMPORAL LOBAR DEGENERATION (ITALIANDIAFN) (2014) (0)
- Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2018) (0)
- No association between α2-macroglobulin DNA polymorphism and Italian sporadic Alzheimer's disease (2000) (0)
- MOLECULAR GENETIC APPROACHES TO AUTOSOMAL DOMINANT FAMILIAL ALZHEIMER'S DISEASE (1988) (0)
- Plasma Neuro fi lament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration (0)
- The Role of Neurofilament Genes in Familial Alzheimer's Disease (1987) (0)
- VI Sindem MEETING: Italian Association for the Study of Dementia linked to the Italian Neurological Society (SIN) (2011) (0)
- Exploring depression in Parkinson's disease: an Italian Delphi Consensus on phenomenology, diagnosis, and management. (2023) (0)
- Degradation of EEG microstates patterns in subjective cognitive decline and mild cognitive impairment: Early biomarkers along the Alzheimer’s Disease continuum? (2023) (0)
- EARLY REGIONAL HYPOMETABOLISM IN PRE-SYMPTOMATIC CARRIERS OF MAPT: A GENFI SUB-STUDY (2019) (0)
- WHITE MATTER HYPERINTENSITIES IN GENETIC FRONTOTEMPORAL DEMENTIA: A GENFI STUDY (2017) (0)
- Grey matter differences in genetic frontotemporal dementia: Results from the genfi study (2015) (0)
- Correction: Italian adaptation of the Uniform Data Set Neuropsychological Test Battery (I‑UDSNB 1.0): development and normative data (2023) (0)
- Emotional dysregulation, alexithymia and neuroticism: a systematic review on the genetic basis of a subset of psychological traits (2022) (0)
- Proliferative Properties of Skin Cultured Fibroblasts in Alzheimer's Disease (1995) (0)
- Neurofilament Light Chain and Intermediate HTT Alleles as Combined Biomarkers in Italian ALS Patients (2021) (0)
- A data‐driven disease progression model of fluid biomarkers in genetic FTD (2021) (0)
- Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study (2023) (0)
- Council & Committees (2006) (0)
- Cognitive Reserve Theory May Apply to the Model of Multiple Sclerosis (P03.070) (2012) (0)
- SIRT1 accelerates the progression of activity-based anorexia (2020) (0)
- 9 Let's treat Alzheimer's disease - genetic aspects (2012) (0)
- Analysis of candidate genes of chromosome 12P (2000) (0)
- Angiotensin converting enzyme gene polymorphism in presenilin linked Alzheimer's disease families and sporadic acid (2000) (0)
- Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa (2019) (0)
- Brief Repeatable Battery--Short Version (2016) (0)
- Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS (2017) (0)
- No association between alpha2-macroglobulin DNA polymorphism and sporadic Alzheimers disease in Italy (2000) (0)
- Implication of a1-antichymotripsin polymorphism in familial Alzheimer’s disease (1998) (0)
- Absence of APP717 mutation in Italian FAD families (1992) (0)
- Cerebrospinal fluid biomarkers for dementia: A case of post-lumbar puncture epidural hematoma (2019) (0)
- Screening for Fmrl Gene Permutations in Italian Patients with Spinocerebellar Ataxia: P05.067 (2006) (0)
- expression and processing of cathepsin D in fibroblasts of patients with Alzheimer's Disease (2004) (0)
- Subjective cognitive decline: 15 years of follow-up experience from a memory clinic (P7-6.005) (2023) (0)
- Progranulin Genetic Screening in Frontotemporal Lobar Degeneration Patients From Central Italy (2011) (0)
- P2-152 Basal frontal/temporal hypometabolism and depressive symptoms in highly educated Alzheimer's disease patients (2004) (0)
- ITALIAN NETWORK FOR AUTOSOMAL DOMINANT ALZHEIMER'S DISEASE AND FRONTOTEMPORAL LOBAR DEGENERATION (ITALIANDIAFN) (2014) (0)
- IX Congresso Sindem: Italian Association for the study of Dementia linked to the Italian Neurological Society (SIN) (2012) (0)
- The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort (2021) (0)
- No association between alpha2-macroglobulin DNA polymorphisms and Italian patients with sporadic Alzheimers disease (2000) (0)
- 32. Behavioral changes in rats of different ages after in vivo inhibition of brain pyruvate dehydrogenase complex (PDHc) (1987) (0)
- Multimodal imaging analysis of C9orf72-associated FTD in the Genetic Frontotemporal dementia Initiative (GENFI) study (2016) (0)
- G02 Decision-making in predictive testing in huntington’s disease (2018) (0)
- Contents Vol. 21, 2006 (2006) (0)
- Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales (2023) (0)
- Differential synaptic marker involvement in the different genetic forms of frontotemporal dementia (2021) (0)
- A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study (2021) (0)
- A combined population and family-based study of eight European populations demonstrates association between BDNF and eating disorders. (2003) (0)
- Subject Index Vol. 69, 2000 (2000) (0)
- IN GENETIC FRONTOTEMPORAL DEMENTIA, FUNCTIONAL NETWORK EFFICIENCY IS MAINTAINED UNTIL THE ONSET OF SYMPTOMS: EVIDENCE FOR FUNCTIONAL RESILIENCE TO STRUCTURAL CHANGE (2017) (0)
- 3.214 Nine-year follow up of bilateral stimulation of the subthalamic nucleus in advanced Parkinson's disease (2007) (0)
- Epidemiology of amyotrophic lateral sclerosis in the north east Tuscany in the 2018-2021 period. (2023) (0)
- Lateralization of Cholinergic and Energy Metabolism Related Enzymes in Human Temporal Cortex (1986) (0)
- IN GENETIC FRONTOTEMPORAL DEMENTIA, FUNCTIONAL NETWORK EFFICIENCY IS MAINTAINED UNTIL THE ONSET OF SYMPTOMS: EVIDENCE FOR FUNCTIONAL RESILIENCE TO STRUCTURAL CHANGE (2017) (0)
- 229 Apolipoprotein E and α1-antichymotrypsin polymorphism in Italian Alzheimer's disease (1996) (0)
- Alfa-D-mannosidases in patients with familial Alzheimer's disease (2000) (0)
- Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease (2020) (0)
- Creutzfeldt-Jakob Disease in a Patient with Previous COVID-19 Infection: “The Virus Caused the Derangement in My Brain” (2023) (0)
- S2-01-03 Genetic studies in late-onset Alzheimer disease: loci on chromosomes 12 and 10 (2004) (0)
- Acylphosphatase Levels In Alzheimer’s Disease Cultured Skin Fibroblasts (1998) (0)
- Pattern of progression in MAPT‐related frontotemporal dementia: Results from the GENFI study (2021) (0)
- Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study (2022) (0)
- P1-323 A cholesterol 24S-hydroxylase gene (Cyp46) polymorphism in Italian Alzheimer’s disease patients (2006) (0)
- Cognitive and affective changes in mild-to-moderate Alzheimer's disease patients undergoing switch of cholinesterase inhibitors enrolled in the EVOLUTION study: The effect of different inhibitor/formulation (2012) (0)
- Detecting clinical progression from abnormal regional brain volumes at baseline in genetic frontotemporal dementia: A GENFI study (2021) (0)
- Analysis of mutations in two homologous genes causing familial Alzheimer's disease (1996) (0)
- Behavioural disorders in Alzheimer's disease: the descriptive and predictive role of brain 18F‐fluorodesoxyglucose‐positron emission tomography (2021) (0)
- Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia (2018) (0)
- Contents Vol. 24, 2007 (2007) (0)
- Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study (2022) (0)
- Q11 Huntington's disease Italian trial in neuro-transplantation: update on 17 patients group (2012) (0)
- Superoxide dismutase 1: no activity decrease and mutations in two Elba Island amyotrophic lateral sclerosis families (1999) (0)
- Fragile X syndrome vs fragile X-associated tremor/ataxia syndrome. Authors' reply (2007) (0)
- Ras differentially regulates lysosomal enzymes expression (2004) (0)
- Subject Index Vol. 21, 2006 (2006) (0)
- Intravenous versus subcutaneous immunoglobulin – Authors' reply (2018) (0)
- Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia (2022) (0)
- Plasma neurofilament light chain predicts Alzheimer’s pathology and progression of cognitive decline in patients with subjective cognitive decline and mild cognitive impairment: a longitudinal study (P10-6.010) (2023) (0)
- Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes (2022) (0)
- Grey matter differences in genetic frontotemporal dementia: Results from the genfi study (2015) (0)
- Atrophy patterns in sporadic and genetic behavioral variant frontotemporal dementia reflect brain network architecture (2021) (0)
- A case of limbic encephalitis evolving into a frontotemporal dementia‐like picture (2019) (0)
- P1-291 Angiotensin converting enzyme insertion/deletion polymorphism in sporadic and familial Alzheimer’s disease and longevity (2006) (0)
- Patterns of longitudinal neuroanatomical change in genetic FTD: results from the Genetic FTD Initiative (GENFI) (2016) (0)
- Highlights of the Issue 4, 2018 (2018) (0)
- Neuropsychiatric symptoms in the genetic frontotemporal dementia initiative (GENFI) cohort (2016) (0)
- 3.225 Neuropsychological outcome of bilateral deep brain stimulation of the subthalamic nucleus in Parkinson's disease (2007) (0)
- Subject Index Vol. 24, 2007 (2007) (0)
- Late-onset Huntington disease: An Italian cohort (2021) (0)
- P1-324: Angiotensin converting enzyme insertion/deletion polymorphism in sporadic and familial Alzheimer’s disease and longevity (2006) (0)
- Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales (2022) (0)
- P3-258: Further evidence of genetic association between SORL1 and Alzheimer's disease (2008) (0)
- Language impairment in the genetic forms of behavioural variant frontotemporal dementia (2022) (0)
- Educational interventions to improve detection and management of cognitive decline in primary care—An Italian multicenter pragmatic study (2022) (0)
- 3.215 Deep brain stimulation of the subthalamic nucleus for Parkinson's disease: Clinical follow-up of 55 patients (2007) (0)
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (0)
- Author response: Whole-genome sequencing analysis of semi-supercentenarians (2021) (0)
- Frequency of the chromosome 9 hexanucleotide repeat expansion in Italian patients with frontotemporal lobar degeneration (2012) (0)
- Subcutaneous immunoglobulin (SCIG) for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (CIDP), a multicenter randomized double-blind placebo-controlled trial: The PATH Study (2019) (0)
- Predictive factors of progression to total loss of language and functional autonomy in primary progressive aphasia related to Alzheimer's disease (2021) (0)
- Corrigendum to “Dissemination in time and space in presymptomatic granulin mutation carriers: A spatial chronnectome study” [Neurobiology of Aging Volume 108, December 2021, Pages 155–167] (2022) (0)
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