Filippo Martinelli Boneschi
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View article: Genetic Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis
Genetic Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis Open
Our study revealed a previously unknown association between an intronic variant in SAMD5 with intrathecal IgG synthesis and identified a potential causal variant within the IGHC locus. It further provides evidence for possible effec…
View article: Large Language Models in Neurological Practice: Real-World Study
Large Language Models in Neurological Practice: Real-World Study Open
Background Large language models (LLMs) such as ChatGPT (OpenAI) and Gemini (Google) are increasingly explored for their potential in medical diagnostics, including neurology. Their real-world applicability remains inadequately assessed, p…
View article: Correction: Pharmacogenomics of clinical response to Natalizumab in multiple sclerosis: a genome-wide multi-centric association study
Correction: Pharmacogenomics of clinical response to Natalizumab in multiple sclerosis: a genome-wide multi-centric association study Open
View article: A disease-specific convergence of host and Epstein–Barr virus genetics in multiple sclerosis
A disease-specific convergence of host and Epstein–Barr virus genetics in multiple sclerosis Open
Recent sero-epidemiological studies have strengthened the hypothesis that Epstein–Barr virus (EBV) may be a causal factor in multiple sclerosis (MS). Given the complexity of the EBV–host interaction, various mechanisms may be responsible f…
View article: Is it time for the neurologist to use Large Language Models in everyday practice? (Preprint)
Is it time for the neurologist to use Large Language Models in everyday practice? (Preprint) Open
BACKGROUND Large Language Models (LLMs) such as ChatGPT and Gemini are increasingly explored for their potential in medical diagnostics, including neurology. Their real-world applicability remains inadequately assessed, particularly in cl…
View article: The MicroMap is a network visualisation resource for microbiome metabolism
The MicroMap is a network visualisation resource for microbiome metabolism Open
The human microbiome plays a crucial role in metabolism and thereby influences health and disease. Constraint-based reconstruction and analysis (COBRA) has proven an attractive framework to generate mechanism-derived hypotheses along the n…
View article: Is there still hesitancy towards SARS-CoV-2 vaccination among people with neurological disease– a survey of the NeuroCOVID-19 task force of the European Academy of Neurology
Is there still hesitancy towards SARS-CoV-2 vaccination among people with neurological disease– a survey of the NeuroCOVID-19 task force of the European Academy of Neurology Open
View article: A genome-scale metabolic reconstruction resource of 247,092 diverse human microbes spanning multiple continents, age groups, and body sites
A genome-scale metabolic reconstruction resource of 247,092 diverse human microbes spanning multiple continents, age groups, and body sites Open
Genome-scale modeling of microbiome metabolism enables the simulation of diet-host-microbiome-disease interactions. However, current genome-scale reconstruction resources are limited in scope by computational challenges. We developed an op…
View article: Is it time for the neurologist to use Large Language Models in everyday practice?
Is it time for the neurologist to use Large Language Models in everyday practice? Open
Large Language Models (LLMs) such as ChatGPT and Gemini are gaining momentum in healthcare for their diagnostic potential. However, their real-world applicability in specialized medical fields like neurology remains inadequately explored. …
View article: Author Correction: Whole-body metabolic modelling reveals microbiome and genomic interactions on reduced urine formate levels in Alzheimer’s disease
Author Correction: Whole-body metabolic modelling reveals microbiome and genomic interactions on reduced urine formate levels in Alzheimer’s disease Open
View article: Pharmacogenomics of clinical response to Natalizumab in multiple sclerosis: a genome-wide multi-centric association study
Pharmacogenomics of clinical response to Natalizumab in multiple sclerosis: a genome-wide multi-centric association study Open
View article: Management of patients with neurological diseases considering post‐pandemic <scp>coronavirus disease 20</scp>19 (COVID‐19) related risks and dangers — An updated European Academy of Neurology consensus statement
Management of patients with neurological diseases considering post‐pandemic <span>coronavirus disease 20</span>19 (COVID‐19) related risks and dangers — An updated European Academy of Neurology consensus statement Open
Background and purpose In October 2020, the European Academy of Neurology (EAN) consensus statement for management of patients with neurological diseases during the coronavirus disease 2019 (COVID‐19) pandemic was published. Due to importa…
View article: Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases
Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases Open
Small-Fiber Neuropathy (SFN) is a disorder of the peripheral nervous system, characterised by neuropathic pain; approximately 11% of cases are linked to variants in Voltage-Gated Sodium Channels (VGSCs). This study aims to broaden the gene…
View article: Genetic mapping across autoimmune diseases reveals shared associations and mechanisms
Genetic mapping across autoimmune diseases reveals shared associations and mechanisms Open
View article: Whole-body metabolic modelling reveals microbiome and genomic interactions on reduced urine formate levels in Alzheimer’s disease
Whole-body metabolic modelling reveals microbiome and genomic interactions on reduced urine formate levels in Alzheimer’s disease Open
In this study, we aimed to understand the potential role of the gut microbiome in the development of Alzheimer's disease (AD). We took a multi-faceted approach to investigate this relationship. Urine metabolomics were examined in individua…
View article: Microbial Abundances Retrieved from Sequencing data—automated NCBI Taxonomy (MARS): a pipeline to create relative microbial abundance data for the Microbiome Modelling Toolbox and utilizing homosynonyms for efficient mapping to resources
Microbial Abundances Retrieved from Sequencing data—automated NCBI Taxonomy (MARS): a pipeline to create relative microbial abundance data for the Microbiome Modelling Toolbox and utilizing homosynonyms for efficient mapping to resources Open
Motivation Computational approaches to the functional characterization of the microbiome, such as the Microbiome Modelling Toolbox, require precise information on microbial composition and relative abundances. However, challenges arise fro…
View article: The <scp>COVID</scp>‐19 pandemic and neurology: A survey on previous and continued restrictions for clinical practice, curricular training, and health economics
The <span>COVID</span>‐19 pandemic and neurology: A survey on previous and continued restrictions for clinical practice, curricular training, and health economics Open
Background and Purpose The COVID‐19 pandemic has significantly impacted health systems worldwide. Here, we assessed the pandemic's impact on clinical service, curricular training, and financial burden from a neurological viewpoint during t…
View article: APOLLO: A genome-scale metabolic reconstruction resource of 247,092 diverse human microbes spanning multiple continents, age groups, and body sites
APOLLO: A genome-scale metabolic reconstruction resource of 247,092 diverse human microbes spanning multiple continents, age groups, and body sites Open
Summary Computational modelling of microbiome metabolism has proved instrumental to catalyse our understanding of diet-host-microbiome-disease interactions through the interrogation of mechanistic, strain- and molecule-resolved metabolic m…
View article: Whole-body modelling reveals microbiome and genomic interactions on reduced urine formate levels in Alzheimer’s disease
Whole-body modelling reveals microbiome and genomic interactions on reduced urine formate levels in Alzheimer’s disease Open
In this study, we aimed to understand the potential role of the gut microbiome in the development of Alzheimer's disease (AD). We took a multi-faceted approach to investigate this relationship. Urine metabolomics were examined in individua…
View article: Locus for severity implicates CNS resilience in progression of multiple sclerosis
Locus for severity implicates CNS resilience in progression of multiple sclerosis Open
View article: Can early-onset acquired demyelinating syndrome (ADS) hide pediatric Behcet's disease? A case report
Can early-onset acquired demyelinating syndrome (ADS) hide pediatric Behcet's disease? A case report Open
Behcet's disease (BD) is a rare vasculitis characterized by multisystemic inflammation. Central nervous system (CNS) involvement is rare and heterogeneous, particularly in the pediatric population. A diagnosis of neuro-Behcet could be high…
View article: Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies
Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies Open
Neuropathic pain is a frequent feature of diabetic peripheral neuropathy (DPN) and small fiber neuropathy (SFN). Resolving the genetic architecture of these painful neuropathies will lead to better disease management strategies, counsellin…
View article: European Working Group on SARS-CoV-2: Current Understanding, Unknowns, and Recommendations on the Neurological Complications of COVID-19
European Working Group on SARS-CoV-2: Current Understanding, Unknowns, and Recommendations on the Neurological Complications of COVID-19 Open
Background: The emergence of COVID-19 was rapidly followed by infection and the deaths of millions of people across the globe. With much of the research and scientific advancement rightly focused on reducing the burden of sev…
View article: Genome-scale metabolic reconstruction of 7,302 human microorganisms for personalized medicine
Genome-scale metabolic reconstruction of 7,302 human microorganisms for personalized medicine Open
View article: A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility
A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility Open
While the role of common genetic variants in multiple sclerosis (MS) has been elucidated in large genome-wide association studies, the contribution of rare variants to the disease remains unclear. Herein, a whole-genome sequencing study in…
View article: Correction to: COVID‑19‑associated Guillain‑Barré syndrome in the early pandemic experience in Lombardia (Italy)
Correction to: COVID‑19‑associated Guillain‑Barré syndrome in the early pandemic experience in Lombardia (Italy) Open
View article: Photon number resolution without optical mode multiplication
Photon number resolution without optical mode multiplication Open
Common methods to achieve photon number resolution rely on fast on-off single-photon detectors in conjunction with temporal or spatial mode multiplexing. Yet, these methods suffer from an inherent trade-off between the efficiency of photon…
View article: COVID-19-associated Guillain-Barré syndrome in the early pandemic experience in Lombardia (Italy)
COVID-19-associated Guillain-Barré syndrome in the early pandemic experience in Lombardia (Italy) Open
View article: Involvement of NINJ2 Protein in Inflammation and Blood–Brain Barrier Transmigration of Monocytes in Multiple Sclerosis
Involvement of NINJ2 Protein in Inflammation and Blood–Brain Barrier Transmigration of Monocytes in Multiple Sclerosis Open
Multiple sclerosis (MS) is an inflammatory neurodegenerative disorder of the central nervous system (CNS). The migration of immune cells into the CNS is essential for its development, and plasma membrane molecules play an important role in…
View article: The impact of PM2.5, PM10 and NO2 on Covid-19 severity in a sample of patients with multiple sclerosis: A case-control study
The impact of PM2.5, PM10 and NO2 on Covid-19 severity in a sample of patients with multiple sclerosis: A case-control study Open