Daniela Galimberti
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View article: Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer’s disease
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer’s disease Open
View article: A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS
A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS Open
Background: Complex cases of retinoblastoma (RB) often require integrative molecular approaches to define tumor etiology and guide clinical management. Purpose: Our aim was to evaluate the usefulness of combining aqueous humor (AH)/plasma …
View article: Glial and neuronal cell-free DNA in plasma of sporadic bvFTD and late onset primary psychiatric disease patients
Glial and neuronal cell-free DNA in plasma of sporadic bvFTD and late onset primary psychiatric disease patients Open
View article: MRI-based classifier to identify close-to-onset cases in <i>C9orf72</i> genetic frontotemporal dementia
MRI-based classifier to identify close-to-onset cases in <i>C9orf72</i> genetic frontotemporal dementia Open
Predicting symptom onset in genetic frontotemporal dementia (FTD) is crucial for advancing targeted interventions and clinical trial design. Brain changes begin years before clinical symptoms emerge, making neuroimaging a strong candidate …
View article: Cortical microstructure is associated with disease severity and clinical progression in genetic frontotemporal dementia: a GENFI study
Cortical microstructure is associated with disease severity and clinical progression in genetic frontotemporal dementia: a GENFI study Open
The study of genetic frontotemporal dementia (FTD) allows investigating its earliest presymptomatic stages. Using cross-sectional T1-weighted and diffusion-weighted MRI, we test the hypothesis that cortical microstructural alterations, qua…
View article: Comparison of neuron-derived extracellular vesicles miRNA profile between patients with behavioural variant frontotemporal dementia and primary psychiatric disorders
Comparison of neuron-derived extracellular vesicles miRNA profile between patients with behavioural variant frontotemporal dementia and primary psychiatric disorders Open
The behavioural variant of frontotemporal dementia (bvFTD) often overlaps clinically with primary psychiatric disorders (PPD), leading to frequent misdiagnosis and delayed intervention. The "Diagnostic and Prognostic Precision Algorithm fo…
View article: Cerebrovascular Reactivity at Rest and Its Association With Cognitive Function in People With Genetic Frontotemporal Dementia
Cerebrovascular Reactivity at Rest and Its Association With Cognitive Function in People With Genetic Frontotemporal Dementia Open
CVR impairment in genetic FTD has a predilection for the middle frontal and posterior cortex, and its preservation may yield a cognitive benefit for at-risk individuals. Although findings do not provide causality and warrant replication, t…
View article: Polygenic Hazard Score for Predicting Age-associated Risk of Alzheimer’s Disease in European Populations: Development and Validation
Polygenic Hazard Score for Predicting Age-associated Risk of Alzheimer’s Disease in European Populations: Development and Validation Open
Objectives Polygenic hazard score (PHS) models can be used to predict the age-associated risk for complex diseases, including Alzheimer’s disease (AD). In this study, we present an improved PHS model for AD that incorporates a large number…
View article: Machine learning in Alzheimer’s disease genetics
Machine learning in Alzheimer’s disease genetics Open
View article: Executive Function Deficits in Genetic Frontotemporal Dementia
Executive Function Deficits in Genetic Frontotemporal Dementia Open
Some individuals with C9orf72 mutations show difficulties with executive function from very early on in the disease and this continues to deteriorate with disease severity. By contrast, similar difficulties occur only in the later s…
View article: Accuracy of blood-based neurofilament light to different genetic frontotemporal dementia from primary psychiatric disorders
Accuracy of blood-based neurofilament light to different genetic frontotemporal dementia from primary psychiatric disorders Open
Background Genetic frontotemporal dementia (FTD) along with Alzheimer's disease (AD), is one of the most prevalent early-onset dementias. The differential diagnosis of FTD from primary psychiatric disorder (PPD) has been challenging due to…
View article: Structural and functional connectivity in tau mutation carriers: from presymptomatic to symptomatic frontotemporal dementia
Structural and functional connectivity in tau mutation carriers: from presymptomatic to symptomatic frontotemporal dementia Open
INTRODUCTION Microtubule‐associated protein tau ( MAPT ) mutations cause frontotemporal dementia (FTD), characterised by behavioural, language, and motor impairments due to brain connectivity disruptions. We investigated structural and fun…
View article: Clinical use and reporting of neurofilament quantification in neurological disorders: A global overview
Clinical use and reporting of neurofilament quantification in neurological disorders: A global overview Open
INTRODUCTION Neurofilament light chain (NfL) quantification aids in diagnosing and predicting neurological disorders, but clinical and laboratory practices vary across centers. Differences in result interpretation and reporting further cha…
View article: APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers′s disease
APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers′s disease Open
Among the more than 90 identified genetic risk loci for late-onset Alzheimer′s disease (AD) and related dementias, the apolipoprotein E gene (APOE) ϵ2/ϵ3/ϵ4 polymorphism remains the longstanding benchmark for genetic disease risk with a co…
View article: Towards a new Value-based scenario for the management of dementia in Italy: a SINdem delphi consensus study
Towards a new Value-based scenario for the management of dementia in Italy: a SINdem delphi consensus study Open
View article: Differential miRNA expression in neural-enriched extracellular vesicles as potential biomarker for frontotemporal dementia and bipolar disorder
Differential miRNA expression in neural-enriched extracellular vesicles as potential biomarker for frontotemporal dementia and bipolar disorder Open
View article: Cellular signatures of functional resilience in presymptomatic frontotemporal dementia
Cellular signatures of functional resilience in presymptomatic frontotemporal dementia Open
Frontotemporal dementia (FTD) shows autosomal dominant transmission in up to a third of families, enabling the study of presymptomatic and prodromal phases. Despite self-reported well-being and normal daily cognitive functioning, brain str…
View article: Proteomic analysis reveals distinct cerebrospinal fluid signatures across genetic frontotemporal dementia subtypes
Proteomic analysis reveals distinct cerebrospinal fluid signatures across genetic frontotemporal dementia subtypes Open
We used an untargeted mass spectrometric approach, tandem mass tag proteomics, for the identification of proteomic signatures in genetic frontotemporal dementia (FTD). A total of 238 cerebrospinal fluid (CSF) samples from the Genetic FTD I…
View article: Differentiating sporadic frontotemporal dementia from late-onset primary psychiatric disorders
Differentiating sporadic frontotemporal dementia from late-onset primary psychiatric disorders Open
Sporadic behavioural variant frontotemporal dementia (bvFTD) is often misdiagnosed as late-onset primary psychiatric disorder (PPD) due to overlapping symptoms and lack of biomarkers. We aimed to identify clinical features that distinguish…
View article: Serum neurofilament light is superior to glial fibrillary acidic protein to distinguish sporadic frontotemporal dementia from late-onset primary psychiatric disorders: a retrospective DIPPA-FTD study
Serum neurofilament light is superior to glial fibrillary acidic protein to distinguish sporadic frontotemporal dementia from late-onset primary psychiatric disorders: a retrospective DIPPA-FTD study Open
Background Sporadic behavioural variant frontotemporal dementia (bvFTD) is often misdiagnosed as late-onset primary psychiatric disorder (PPD). Previous research in small sample sizes has shown that neurofilament light (NfL) and glial fibr…
View article: Thalamus involvement in genetic frontotemporal dementia assessed using structural and diffusion MRI: a GENFI study
Thalamus involvement in genetic frontotemporal dementia assessed using structural and diffusion MRI: a GENFI study Open
Thalamic subregions are commonly, but variably, affected by different forms of frontotemporal dementia. We aimed to better characterize thalamic subregional involvement in genetic frontotemporal dementia with a recently published thalamus …
View article: Clinical Application and Reporting of Neurofilament Quantification in Neurological Disorders: An International Overview
Clinical Application and Reporting of Neurofilament Quantification in Neurological Disorders: An International Overview Open
View article: Differential miRNA Expression in Neuronal-Derived Extracellular Vesicles as potential biomarker for Frontotemporal Dementia and Bipolar Disorder
Differential miRNA Expression in Neuronal-Derived Extracellular Vesicles as potential biomarker for Frontotemporal Dementia and Bipolar Disorder Open
Frontotemporal Dementia (FTD) and Bipolar Disorder (BD) share overlapping symptoms, complicating diagnosis. FTD, especially linked to C9orf72 expansions, often mimics BD, highlighting the need for reliable biomarkers. This study aimed to d…
View article: Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history
Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history Open
View article: International Initiative for Harmonization of Plasma Neurofilament light chain NfL clinical reporting in neurodegenerative diseases
International Initiative for Harmonization of Plasma Neurofilament light chain NfL clinical reporting in neurodegenerative diseases Open
Background The quantification of neurofilament light chain (NfL) in blood and cerebrospinal fluid (CSF) has proved useful in many contexts, for the diagnosis and prognosis of various neurological disorders. There is, however, a diversity o…
View article: Differentiating Sporadic behavioural variant Frontotemporal Dementia from late‐onset Primary Psychiatric Disorders: the DIPPA‐FTD study
Differentiating Sporadic behavioural variant Frontotemporal Dementia from late‐onset Primary Psychiatric Disorders: the DIPPA‐FTD study Open
Background Sporadic bvFTD is often misdiagnosed as a primary psychiatric disorder (PPD) due to overlapping clinical features and lack of reliable biomarkers. The multi‐centre study DIPPA‐FTD aims to develop diagnostic‐ and prognostic ‐ alg…
View article: Association of Initial Side of Brain Atrophy With Clinical Features and Disease Progression in Patients With <i>GRN</i> Frontotemporal Dementia
Association of Initial Side of Brain Atrophy With Clinical Features and Disease Progression in Patients With <i>GRN</i> Frontotemporal Dementia Open
FTD-GRN affects the brain hemispheres asymmetrically and causes 2 anatomical asymmetry patterns depending on the side of the disease onset. We demonstrated that these 2 anatomical asymmetry patterns present different symptoms, sever…
View article: Association of Changes in Cerebral and Hypothalamic Structure With Sleep Dysfunction in Patients With Genetic Frontotemporal Dementia
Association of Changes in Cerebral and Hypothalamic Structure With Sleep Dysfunction in Patients With Genetic Frontotemporal Dementia Open
These findings suggest that sleep dysfunction in patients with genetic FTD may be attributable to atrophy in sleep-relevant hypothalamic subunits, with the most severe and consistent deficits observed in MAPT carriers. While biologically p…
View article: Extremely rare CNVs contributing to Alzheimer disease risk: a case-control association analysis of exome sequencing data from 22,319 individuals
Extremely rare CNVs contributing to Alzheimer disease risk: a case-control association analysis of exome sequencing data from 22,319 individuals Open
Rare coding single nucleotide variants (SNV) and short insertions or deletions (indels) contribute to Alzheimer disease (AD) genetic risk, from pathogenic variants in autosomal dominant genes to risk factors with diverse effects. In contra…
View article: Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data Open