Nicola De Stefano
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View article: Miglustat in Alzheimer's Disease Associated With Heterozygous <scp> <i>NPC1</i> </scp> Mutation: Exploratory Case Series and Preliminary Findings
Miglustat in Alzheimer's Disease Associated With Heterozygous <span> <i>NPC1</i> </span> Mutation: Exploratory Case Series and Preliminary Findings Open
Introduction Several studies have previously demonstrated an increased risk of dementia and brain amyloid deposition in individuals with heterozygous NPC1 mutations. Moreover, in a recent study, we identified the first family with autosoma…
View article: Deep Learning Modeling to Differentiate Multiple Sclerosis From MOG Antibody–Associated Disease
Deep Learning Modeling to Differentiate Multiple Sclerosis From MOG Antibody–Associated Disease Open
This study provides Class III evidence that both a clinical/MRI algorithm and an MRI-based DL model accurately distinguish RRMS from MOGAD.
View article: Relationship between brain atrophy and disability in a multi-site multiple sclerosis registry
Relationship between brain atrophy and disability in a multi-site multiple sclerosis registry Open
Background In a retrospective multicentre cohort study, we explored the association between brain atrophy and multiple sclerosis (MS) disability using different MRI scanners and protocols at multiple sites. Methods Relapse-onset MS patient…
View article: Corrigendum: Blood biomarker dynamics in people with relapsing multiple sclerosis treated with cladribine tablets: results of the 2-year MAGNIFY-MS study
Corrigendum: Blood biomarker dynamics in people with relapsing multiple sclerosis treated with cladribine tablets: results of the 2-year MAGNIFY-MS study Open
[This corrects the article DOI: 10.3389/fimmu.2025.1512189.].
View article: Does Lumbar Puncture Still Have Clinical Value for Patients with Amyotrophic Lateral Sclerosis?
Does Lumbar Puncture Still Have Clinical Value for Patients with Amyotrophic Lateral Sclerosis? Open
Background: The relationship between routine cerebrospinal fluid (CSF) testing and clinical and prognostic data in amyotrophic lateral sclerosis (ALS) remains unclear. Additionally, biochemical data have never been correlated with markers …
View article: Treatment effects of cladribine tablets on data-driven patterns of regional grey matter atrophy in multiple sclerosis
Treatment effects of cladribine tablets on data-driven patterns of regional grey matter atrophy in multiple sclerosis Open
Background: Treatment with cladribine tablets (CladT) in relapsing–remitting multiple sclerosis (RRMS) reduced global grey matter (GM) atrophy, but the effects on regional GM are unknown. Objectives: This study aimed to investigate the eff…
View article: Blood biomarker dynamics in people with relapsing multiple sclerosis treated with cladribine tablets: results of the 2-year MAGNIFY-MS study
Blood biomarker dynamics in people with relapsing multiple sclerosis treated with cladribine tablets: results of the 2-year MAGNIFY-MS study Open
Background and objectives Cladribine tablets (CladT) represent an effective immune reconstitution therapy, administered in short treatment courses over two consecutive years. To better understand the amplitude of immune changes, we perform…
View article: Peripherin, A New Promising Biomarker in Neurological Disorders
Peripherin, A New Promising Biomarker in Neurological Disorders Open
Peripherin is a class III intermediate filament protein that has recently gained attention as a potential biomarker for axonal damage in the peripheral nervous system. This review examines peripherin gene expression, protein structure, and…
View article: Pediatric, adult, and late onset multiple sclerosis: Cognitive phenotypes and gray matter atrophy
Pediatric, adult, and late onset multiple sclerosis: Cognitive phenotypes and gray matter atrophy Open
Objectives We aim to investigate cognitive phenotype distribution and MRI correlates across pediatric‐, elderly‐, and adult‐onset MS patients as a function of disease duration. Methods In this cross‐sectional study, we enrolled 1262 MS pat…
View article: CSF IL-6, GDF-15, GFAP and NfL levels in early Alzheimer disease: a pilot study
CSF IL-6, GDF-15, GFAP and NfL levels in early Alzheimer disease: a pilot study Open
Background: Despite their potential usefulness as biomarkers, no study has investigated the interactions between cerebrospinal fluid (CSF) changes of neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), growth different…
View article: Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy
Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy Open
Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (ADOA) are the two most prevailing primary mitochondrial optic neuropathies. Both diseases preferentially affect the smallest retinal ganglion cells (GCs) of the…
View article: Clinical and mechanistic effects of cladribine in relapsing multiple sclerosis: 2-year results from the MAGNIFY-MS Study
Clinical and mechanistic effects of cladribine in relapsing multiple sclerosis: 2-year results from the MAGNIFY-MS Study Open
Background: Cladribine, an oral prodrug, penetrates the blood–brain barrier, impacting biomarkers of disease progression within the central nervous system. Objectives: Describe disease activity in cladribine tablets (CladT)-treated people …
View article: More Than the Sum of Its Parts: Disrupted Core Periphery of Multiplex Brain Networks in Multiple Sclerosis
More Than the Sum of Its Parts: Disrupted Core Periphery of Multiplex Brain Networks in Multiple Sclerosis Open
Disruptions to brain networks, measured using structural (sMRI), diffusion (dMRI), or functional (fMRI) MRI, have been shown in people with multiple sclerosis (PwMS), highlighting the relevance of regions in the core of the connectome but …
View article: Disease Severity Staging System for <i>NOTCH3</i>-Associated Small Vessel Disease, Including CADASIL
Disease Severity Staging System for <i>NOTCH3</i>-Associated Small Vessel Disease, Including CADASIL Open
Importance Typical cysteine-altering NOTCH3 ( NOTCH3 cys ) variants are highly prevalent (approximately 1 in 300 individuals) and are associated with a broad spectrum of small vessel disease (SVD), ranging from early-onset stroke and demen…
View article: Investigating interleukin-8 in Alzheimer's disease: A comprehensive review
Investigating interleukin-8 in Alzheimer's disease: A comprehensive review Open
Several studies indicate that the development of Alzheimer's disease (AD) has strong interactions with immune mechanisms within the brain, indicating a close association between inflammation in the central nervous system and the progressio…
View article: Serum growth differentiation factor-15, glial fibrillary acidic protein, and neurofilament light chain: Their link and role in Creutzfeldt-Jakob disease
Serum growth differentiation factor-15, glial fibrillary acidic protein, and neurofilament light chain: Their link and role in Creutzfeldt-Jakob disease Open
In conclusion, this study explores the potential of sNfL, sGDF-15, and sGFAP as biomarkers in CJD patients. The higher levels of sNfL and sGFAP in CJD patients compared to healthy controls, along with the observed sex differences in sGFAP,…
View article: Disentangling Neurodegeneration From Aging in Multiple Sclerosis Using Deep Learning
Disentangling Neurodegeneration From Aging in Multiple Sclerosis Using Deep Learning Open
The brain-predicted DD gap is sensitive to MS-related lesions and brain atrophy, adds to the brain-age paradigm in explaining physical disability both cross-sectionally and longitudinally, and may be used as an MS-specific biomarker of dis…
View article: Respiratory Trajectories and Correlation with Serum Biochemical Indices in Spinal and Bulbar Muscular Atrophy
Respiratory Trajectories and Correlation with Serum Biochemical Indices in Spinal and Bulbar Muscular Atrophy Open
Background/Objectives: The primary life-threatening complication in spinal–bulbar muscular atrophy (SBMA) is ventilatory failure. The present study analyzes the longitudinal patterns of respiratory function tests over a follow-up of 11 yea…
View article: CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy
CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy Open
CCDC78 was identified as a novel candidate gene for autosomal dominant centronuclear myopathy-4 (CNM4) approximately ten years ago. However, to date, only one family has been described, and the function of CCDC78 remains unclear. Here, we …
View article: Respiratory Trajectories and Correlation with Serum Biochemical Indices in Spinal and Bulbar Muscular Atrophy
Respiratory Trajectories and Correlation with Serum Biochemical Indices in Spinal and Bulbar Muscular Atrophy Open
Background/Objectives: The primary life-threatening complication in Spinal-bulbar muscular atrophy (SBMA) is ventilatory failure, which results from the weakening of the bulbar and respiratory muscles. However, systematic studies assessing…
View article: Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3 Open
The Wellcome Trust, the MRC.
View article: Current and future role of MRI in the diagnosis and prognosis of multiple sclerosis
Current and future role of MRI in the diagnosis and prognosis of multiple sclerosis Open
In the majority of cases, multiple sclerosis (MS) is characterized by reversible episodes of neurological dysfunction, often followed by irreversible clinical disability. Accurate diagnostic criteria and prognostic markers are critical to …