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1. COVID-19-associated Guillain-Barré syndrome in the early pandemic experience in Lombardia (Italy)

Author

Martinelli-Boneschi, Filippo, Colombo, Antonio, Bresolin, Nereo, Sessa, Maria, Bassi, Pietro, Grampa, Giampiero, Magni, Eugenio, Versino, Maurizio, Ferrarese, Carlo, Zarcone, Davide, Albanese, Alberto, Micieli, Giuseppe, Zanferrari, Carla, Cagnana, Antonio, Ferrante, Claudio, Zilioli, Angelo, Locatelli, Davide, Calloni, Maria Vittoria, Delodovici, Maria Luisa, Pozzato, Mattia, Patisso, Valerio, Bortolan, Francesco, Foresti, Camillo, Frigeni, Barbara, Canella, Stefania, Xhani, Rubjona, Crabbio, Massimo, Clemenzi, Alessandro, Mauri, Marco, Beretta, Simone, La Spina, Isidoro, Bernasconi, Simona, De Santis, Tiziana, Cavallini, Anna, Ranieri, Michela, D’Adda, Elisabetta, Fruguglietti, Maria Elisa, Peverelli, Lorenzo, Agosti, Edoardo, Leoni, Olivia, Rigamonti, Andrea, and Salmaggi, Andrea

Published
2023
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2. Sex differences in ischemic stroke during COVID-19 first outbreak in northern Italy

Author

Sangalli, Davide, Versino, Maurizio, Colombo, Irene, Ciccone, Alfonso, Beretta, Simone, Marcheselli, Simona, Roncoroni, Mauro, Beretta, Sandro, Lorusso, Lorenzo, Cavallini, Anna, Prelle, Alessandro, Guidetti, Donata, La Gioia, Sara, Canella, Stefania, Zanferrari, Carla, Grampa, Giampiero, d'Adda, Elisabetta, Peverelli, Lorenzo, Colombo, Antonio, Martinelli-Boneschi, Filippo, and Salmaggi, Andrea

Published
2023
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3. A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility

Author

Sorosina, Melissa, Barizzone, Nadia, Clarelli, Ferdinando, Anand, Santosh, Lupoli, Sara, Salvi, Erika, Mangano, Eleonora, Bordoni, Roberta, Roostaei, Tina, Mascia, Elisabetta, Zuccalà, Miriam, Vecchio, Domizia, Cavalla, Paola, Santoro, Silvia, Ferrè, Laura, Zollo, Alen, Barlassina, Cristina, Cusi, Daniele, Martinelli, Vittorio, Comi, Giancarlo, Leone, Maurizio, Filippi, Massimo, Patsopoulos, Nikolaos A., De Jager, Philip L., De Bellis, Gianluca, Esposito, Federica, D’Alfonso, Sandra, and Martinelli Boneschi, Filippo

Published
2022
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4. Correction to: COVID‑19‑associated Guillain‑Barré syndrome in the early pandemic experience in Lombardia (Italy)

Author

Martinelli‑Boneschi, Filippo, Colombo, Antonio, Bresolin, Nereo, Sessa, Maria, Bassi, Pietro, Grampa, Giampiero, Magni, Eugenio, Versino, Maurizio, Ferrarese, Carlo, Zarcone, Davide, Albanese, Alberto, Micieli, Giuseppe, Zanferrari, Carla, Cagnana, Antonio, Ferrante, Claudio, Zilioli, Angelo, Locatelli, Davide, Calloni, Maria Vittoria, Delodovici, Maria Luisa, Pozzato, Mattia, Patisso, Valerio, Bortolan, Francesco, Foresti, Camillo, Frigeni, Barbara, Canella, Stefania, Xhani, Rubjona, Crabbio, Massimo, Clemenzi, Alessandro, Mauri, Marco, Beretta, Simone, La Spina, Isidoro, Bernasconi, Simona, De Santis, Tiziana, Cavallini, Anna, Ranieri, Michela, D’Adda, Elisabetta, Fruguglietti, Maria Elisa, Peverelli, Lorenzo, Agosti, Edoardo, Leoni, Olivia, Rigamonti, Andrea, and Salmaggi, Andrea

Published
2023
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5. Author Correction: A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis

Author

Madireddy, Lohith, Patsopoulos, Nikolaos A, Cotsapas, Chris, Bos, Steffan D, Beecham, Ashley, McCauley, Jacob, Kim, Kicheol, Jia, Xiaoming, Santaniello, Adam, Caillier, Stacy J, Andlauer, Till FM, Barcellos, Lisa F, Berge, Tone, Bernardinelli, Luisa, Martinelli-Boneschi, Filippo, Booth, David R, Briggs, Farren, Celius, Elisabeth G, Comabella, Manuel, Comi, Giancarlo, Cree, Bruce AC, D'Alfonso, Sandra, Dedham, Katrina, Duquette, Pierre, Dardiotis, Efthimios, Esposito, Federica, Fontaine, Bertrand, Gasperi, Christiane, Goris, An, Dubois, Benedicte, Gourraud, Pierre-Antoine, Hadjigeorgiou, Georgios, Haines, Jonathan, Hawkins, Clive, Hemmer, Bernhard, Hintzen, Rogier, Horakova, Dana, Isobe, Noriko, Kalra, Seema, Kira, Jun-ichi, Khalil, Michael, Kockum, Ingrid, Lill, Christina M, Lincoln, Matthew R, Luessi, Felix, Martin, Roland, Oturai, Annette, Palotie, Aarno, Pericak-Vance, Margaret A, Henry, Roland, Saarela, Janna, Ivinson, Adrian, Olsson, Tomas, Taylor, Bruce V, Stewart, Graeme J, Harbo, Hanne F, Compston, Alastair, Hauser, Stephen L, Hafler, David A, Zipp, Frauke, De Jager, Philip, Sawcer, Stephen, Oksenberg, Jorge R, and Baranzini, Sergio E

Subjects
International Multiple Sclerosis Genetics Consortium
Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2019

6. A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis

Author

Madireddy, Lohith, Patsopoulos, Niklaos A, Cotsapas, Chris, Bos, Steffan D, Beecham, Ashley, McCauley, Jacob, Kim, Kicheol, Jia, Xiaoming, Santaniello, Adam, Caillier, Stacy J, Andlauer, Till FM, Barcellos, Lisa F, Berge, Tone, Bernardinelli, Luisa, Martinelli-Boneschi, Filippo, Booth, David R, Briggs, Farren, Celius, Elisabeth G, Comabella, Manuel, Comi, Giancarlo, Cree, Bruce AC, D'Alfonso, Sandra, Dedham, Katrina, Duquette, Pierre, Efthimios, Dardiotis, Esposito, Federica, Fontaine, Bertrand, Gasperi, Christiane, Goris, An, Dubois, Benedicte, Gourraud, Pierre-Antoine, Hadjigeorgiou, Georgios, Haines, Jonathan, Hawkins, Clive, Hemmer, Bernhard, Hintzen, Rogier, Horakova, Dana, Isobe, Noriko, Kalra, Seema, Kira, Jun-ichi, Khalil, Michael, Kockum, Ingrid, Lill, Christina M, Lincoln, Matthew R, Luessi, Felix, Martin, Roland, Oturai, Annette, Palotie, Aarno, Pericak-Vance, Margaret A, Henry, Roland, Saarela, Janna, Ivinson, Adrian, Olsson, Tomas, Taylor, Bruce V, Stewart, Graeme J, Harbo, Hanne F, Compston, Alastair, Hauser, Stephen L, Hafler, David A, Zipp, Frauke, De Jager, Philip, Sawcer, Stephen, Oksenberg, Jorge R, and Baranzini, Sergio E

Subjects
Human Genome, Autoimmune Disease, Multiple Sclerosis, Genetics, Biotechnology, Brain Disorders, Neurodegenerative, Clinical Research, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Gene Expression Regulation, Genes, Regulator, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Polymorphism, Single Nucleotide, Systems Biology, International Multiple Sclerosis Genetics Consortium
Abstract

Genome-wide association studies (GWAS) have identified more than 50,000 unique associations with common human traits. While this represents a substantial step forward, establishing the biology underlying these associations has proven extremely difficult. Even determining which cell types and which particular gene(s) are relevant continues to be a challenge. Here, we conduct a cell-specific pathway analysis of the latest GWAS in multiple sclerosis (MS), which had analyzed a total of 47,351 cases and 68,284 healthy controls and found more than 200 non-MHC genome-wide associations. Our analysis identifies pan immune cell as well as cell-specific susceptibility genes in T cells, B cells and monocytes. Finally, genotype-level data from 2,370 patients and 412 controls is used to compute intra-individual and cell-specific susceptibility pathways that offer a biological interpretation of the individual genetic risk to MS. This approach could be adopted in any other complex trait for which genome-wide data is available.

Published
2019

7. Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.

Author

Misra, Kaalindi, Ślęczkowska, Milena, Santoro, Silvia, Gerrits, Monique M., Mascia, Elisabetta, Marchi, Margherita, Salvi, Erika, Smeets, Hubert J. M., Hoeijmakers, Janneke G. J., Martinelli Boneschi, Filippo Giovanni, Filippi, Massimo, Lauria Pinter, Giuseppe, Faber, Catharina G., and Esposito, Federica

Subjects
NICOTINIC acetylcholine receptors, AGE of onset, PERIPHERAL nervous system, NEUROPATHY, SODIUM channels, TRP channels, OPIOID receptors
Abstract

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 genetic knowledge on painful SFN by applying Whole-Exome Sequencing (WES) in Early-Onset (EO) cases. A total of 88 patients from Italy (n = 52) and the Netherlands (n = 36), with a disease onset at age ≤ 45 years old and a Pain Numerical Rating Score ≥ 4, were recruited. After variant filtering and classification, WES analysis identified 142 potentially causative variants in 93 genes; 8 are Pathogenic, 15 are Likely Pathogenic, and 119 are Variants of Uncertain Significance. Notably, an enrichment of variants in transient receptor potential genes was observed, suggesting their role in pain modulation alongside VGSCs. A pathway analysis performed by comparing EO cases with 40 Italian healthy controls found enriched mutated genes in the "Nicotinic acetylcholine receptor signaling pathway". Targeting this pathway with non-opioid drugs could offer novel therapeutic avenues for painful SFN. Additionally, with this study we demonstrated that employing a gene panel of reported mutated genes could serve as an initial screening tool for SFN in genetic studies, enhancing clinical diagnostics. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.

Author

Jia, Xiaoming, Madireddy, Lohith, Caillier, Stacy, Santaniello, Adam, Esposito, Federica, Comi, Giancarlo, Stuve, Olaf, Zhou, Yuan, Taylor, Bruce, Kilpatrick, Trevor, Martinelli-Boneschi, Filippo, Cree, Bruce AC, Oksenberg, Jorge R, Hauser, Stephen L, and Baranzini, Sergio E

Subjects
Humans, Cysts, Multiple Sclerosis, Chronic Progressive, Hereditary Central Nervous System Demyelinating Diseases, Paraplegia, Kinesin, Membrane Transport Proteins, Membrane Proteins, Cohort Studies, Genotype, Phenotype, Mutation, Adolescent, Adult, Aged, Middle Aged, Child, Child, Preschool, Female, Male, Meta-Analysis as Topic, Genome-Wide Association Study, Young Adult, Clinical Sciences, Neurosciences, Neurology & Neurosurgery
Abstract

ObjectivePrimary progressive multiple sclerosis (PPMS) causes accumulation of neurological disability from disease onset without clinical attacks typical of relapsing multiple sclerosis (RMS). However, whether genetic variation influences the disease course remains unclear. We aimed to determine whether mutations causative of neurological disorders that share features with multiple sclerosis (MS) contribute to risk for developing PPMS.MethodsWe examined whole-genome sequencing (WGS) data from 38 PPMS and 81 healthy subjects of European ancestry. We selected pathogenic variants exclusively found in PPMS patients that cause monogenic neurological disorders and performed two rounds of replication genotyping in 746 PPMS, 3,049 RMS, and 1,000 healthy subjects. To refine our findings, we examined the burden of rare, potentially pathogenic mutations in 41 genes that cause hereditary spastic paraplegias (HSPs) in PPMS (n = 314), secondary progressive multiple sclerosis (SPMS; n = 587), RMS (n = 2,248), and healthy subjects (n = 987) genotyped using the MS replication chip.ResultsWGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31. Moreover, we detected a significant enrichment of HSP-related mutations in PPMS patients compared to controls (risk ratio [RR] = 1.95; 95% confidence interval [CI], 1.27-2.98; p = 0.002), as well as in SPMS patients compared to controls (RR = 1.57; 95% CI, 1.18-2.10; p = 0.002). Importantly, this enrichment was not detected in RMS.InterpretationThis study provides evidence to support the hypothesis that rare Mendelian genetic variants contribute to the risk for developing progressive forms of MS. Ann Neurol 2018;83:51-63.

Published
2018

9. Posterior reversible encephalopathy syndrome and COVID-19: A series of 6 cases from Lombardy, Italy

Author

Colombo, Antonio, Martinelli Boneschi, Filippo, Beretta, Sandro, Bresolin, Nereo, Versino, Maurizio, Lorusso, Lorenzo, Spagnoli, Diego, Nastasi, Giulia, Vallauri, Davide, Rota, Stefania, Repaci, Maria, Ferrarini, Massimo, Pozzato, Mattia, Princiotta Cariddi, Lucia, Tabaee Damavandi, Payam, Carimati, Federico, Banfi, Paola, Clemenzi, Alessandro, Marelli, Margherita, Giorgianni, Andrea, Vinacci, Gabriele, Mauri, Marco, Melzi, Paola, Di Stefano, Maria, Tetto, Antonio, Canesi, Margherita, and Salmaggi, Andrea

Published
2021
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10. Correction to: A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility

Author

Sorosina, Melissa, Barizzone, Nadia, Clarelli, Ferdinando, Anand, Santosh, Lupoli, Sara, Salvi, Erika, Mangano, Eleonora, Bordoni, Roberta, Roostaei, Tina, Mascia, Elisabetta, Zuccalà, Miriam, Vecchio, Domizia, Cavalla, Paola, Santoro, Silvia, Ferrè, Laura, Zollo, Alen, Barlassina, Cristina, Cusi, Daniele, Martinelli, Vittorio, Comi, Giancarlo, Leone, Maurizio, Filippi, Massimo, Patsopoulos, Nikolaos A., De Jager, Philip L., De Bellis, Gianluca, Esposito, Federica, D’Alfonso, Sandra, and Martinelli Boneschi, Filippo

Published
2022
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11. Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies.

Author

George, Michaela F, Briggs, Farren BS, Shao, Xiaorong, Gianfrancesco, Milena A, Kockum, Ingrid, Harbo, Hanne F, Celius, Elisabeth G, Bos, Steffan D, Hedström, Anna, Shen, Ling, Bernstein, Allan, Alfredsson, Lars, Hillert, Jan, Olsson, Tomas, Patsopoulos, Nikolaos A, De Jager, Philip L, Oturai, Annette B, Søndergaard, Helle B, Sellebjerg, Finn, Sorensen, Per S, Gomez, Refujia, Caillier, Stacy J, Cree, Bruce AC, Oksenberg, Jorge R, Hauser, Stephen L, D'Alfonso, Sandra, Leone, Maurizio A, Martinelli Boneschi, Filippo, Sorosina, Melissa, van der Mei, Ingrid, Taylor, Bruce V, Zhou, Yuan, Schaefer, Catherine, and Barcellos, Lisa F

Subjects
Genetics, Neurosciences
Abstract

ObjectiveWe investigated the association between 52 risk variants identified through genome-wide association studies and disease severity in multiple sclerosis (MS).MethodsTen unique MS case data sets were analyzed. The Multiple Sclerosis Severity Score (MSSS) was calculated using the Expanded Disability Status Scale at study entry and disease duration. MSSS was considered as a continuous variable and as 2 dichotomous variables (median and extreme ends; MSSS of ≤5 vs >5 and MSSS of

Published
2016

12. Class II HLA interactions modulate genetic risk for multiple sclerosis.

Author

Moutsianas, Loukas, Jostins, Luke, Beecham, Ashley, Dilthey, Alexander, Xifara, Dionysia, Ban, Maria, Shah, Tejas, Patsopoulos, Nikolaos, Alfredsson, Lars, Anderson, Carl, Attfield, Katherine, Barrett, Jeffrey, Binder, Thomas, Booth, David, Buck, Dorothea, Celius, Elisabeth, Cotsapas, Chris, DAlfonso, Sandra, Dendrou, Calliope, Donnelly, Peter, Dubois, Bénédicte, Fontaine, Bertrand, Fugger, Lars, Goris, An, Graetz, Christiane, Hemmer, Bernhard, Hillert, Jan, Kockum, Ingrid, Leslie, Stephen, Lill, Christina, Martinelli-Boneschi, Filippo, Olsson, Tomas, Oturai, Annette, Saarela, Janna, Søndergaard, Helle, Spurkland, Anne, Taylor, Bruce, Winkelmann, Juliane, Zipp, Frauke, Haines, Jonathan, Pericak-Vance, Margaret, Spencer, Chris, Stewart, Graeme, Hafler, David, Ivinson, Adrian, Harbo, Hanne, De Jager, Philip, Compston, Alastair, McCauley, Jacob, Sawcer, Stephen, McVean, Gil, Hauser, Stephen, Oksenberg, Jorge, Baranzini, Sergio, and Gourraud, Pierre-Antoine

Subjects
Alleles, Epistasis, Genetic, Genetic Predisposition to Disease, Histocompatibility Antigens Class II, Humans, Multiple Sclerosis, Polymorphism, Single Nucleotide
Abstract

Association studies have greatly refined the understanding of how variation within the human leukocyte antigen (HLA) genes influences risk of multiple sclerosis. However, the extent to which major effects are modulated by interactions is poorly characterized. We analyzed high-density SNP data on 17,465 cases and 30,385 controls from 11 cohorts of European ancestry, in combination with imputation of classical HLA alleles, to build a high-resolution map of HLA genetic risk and assess the evidence for interactions involving classical HLA alleles. Among new and previously identified class II risk alleles (HLA-DRB1*15:01, HLA-DRB1*13:03, HLA-DRB1*03:01, HLA-DRB1*08:01 and HLA-DQB1*03:02) and class I protective alleles (HLA-A*02:01, HLA-B*44:02, HLA-B*38:01 and HLA-B*55:01), we find evidence for two interactions involving pairs of class II alleles: HLA-DQA1*01:01-HLA-DRB1*15:01 and HLA-DQB1*03:01-HLA-DQB1*03:02. We find no evidence for interactions between classical HLA alleles and non-HLA risk-associated variants and estimate a minimal effect of polygenic epistasis in modulating major risk alleles.

Published
2015

13. Mitochondrial DNA sequence variation in multiple sclerosis

Author

Tranah, Gregory J, Santaniello, Adam, Caillier, Stacy J, D'Alfonso, Sandra, Martinelli Boneschi, Filippo, Hauser, Stephen L, and Oksenberg, Jorge R

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Brain Disorders, Multiple Sclerosis, Human Genome, Clinical Research, Genetics, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, Case-Control Studies, DNA, Mitochondrial, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Haplotypes, Humans, Polymorphism, Single Nucleotide, White People, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveTo assess the influence of common mitochondrial DNA (mtDNA) sequence variation on multiple sclerosis (MS) risk in cases and controls part of an international consortium.MethodsWe analyzed 115 high-quality mtDNA variants and common haplogroups from a previously published genome-wide association study among 7,391 cases from the International Multiple Sclerosis Genetics Consortium and 14,568 controls from the Wellcome Trust Case Control Consortium 2 project from 7 countries. Significant single nucleotide polymorphism and haplogroup associations were replicated in 3,720 cases and 879 controls from the University of California, San Francisco.ResultsAn elevated risk of MS was detected among haplogroup JT carriers from 7 pooled clinic sites (odds ratio [OR] = 1.15, 95% confidence interval [CI] = 1.07-1.24, p = 0.0002) included in the discovery study. The increased risk of MS was observed for both haplogroup T (OR = 1.17, 95% CI = 1.06-1.29, p = 0.002) and haplogroup J carriers (OR = 1.11, 95% CI = 1.01-1.22, p = 0.03). These haplogroup associations with MS were not replicated in the independent sample set. An elevated risk of primary progressive (PP) MS was detected for haplogroup J participants from 3 European discovery populations (OR = 1.49, 95% CI = 1.10-2.01, p = 0.009). This elevated risk was borderline significant in the US replication population (OR = 1.43, 95% CI = 0.99-2.08, p = 0.058) and remained significant in pooled analysis of discovery and replication studies (OR = 1.43, 95% CI = 1.14-1.81, p = 0.002). No common individual mtDNA variants were associated with MS risk.ConclusionsIdentification and validation of mitochondrial genetic variants associated with MS and PPMS may lead to new targets for treatment and diagnostic tests for identifying potential responders to interventions that target mitochondria.

Published
2015

14. Safety and efficacy of nabiximols on spasticity symptoms in patients with motor neuron disease (CANALS): a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial

Author

Formaglio, Fabio, Rossi, Paolo, Clerici, Marta, Falzone, Yuri Matteo, Pozzi, Laura, Martinelli, Daniele, Cerri, Federica, Lopez, Ignazio Diego, Martinelli-Boneschi, Filippo, Quattrini, Angelo, Pieri, Elisabetta, Marinou, Kalliopi, Querin, Giorgia, Sansone, Valeria, Maestri, Eleonora, Calvo, Andrea, Chio, Adriano, Riva, Nilo, Mora, Gabriele, Sorarù, Gianni, Lunetta, Christian, Ferraro, Ottavia E, Falzone, Yuri, Leocani, Letizia, Fazio, Raffaella, Comola, Mauro, and Comi, Giancarlo

Published
2019
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16. The COVID‐19 pandemic and neurology: A survey on previous and continued restrictions for clinical practice, curricular training, and health economics.

Author

Rakusa, Martin, Moro, Elena, Akhvlediani, Tamar, Bereczki, Daniel, Bodini, Benedetta, Cavallieri, Francesco, Fanciulli, Alessandra, Filipović, Saša R., Guekht, Alla, Helbok, Raimund, Hochmeister, Sonja, Martinelli Boneschi, Filippo, Özturk, Serefnur, Priori, Alberto, Romoli, Michele, Willekens, Barbara, Zedde, Marialuisa, and Sellner, Johann

Subjects
MEDICAL personnel, COVID-19 pandemic, MEDICAL economics, NEUROLOGISTS, MEDICAL education, AUTONOMIC nervous system
Abstract

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 the enforced lockdown periods and the assumed recovery by 2023. Methods: An online 18‐item survey was conducted by the European Academy of Neurology (EAN) NeuroCOVID‐19 Task Force among the EAN community. The survey was online between February and March 2023. Questions related to general, demographic, clinical, work, education, and economic aspects. Results: We collected 430 responses from 79 countries. Most health care professionals were aged 35–44 years, with >15 years of work experience. The key findings of their observations were as follows. (i) Clinical services were cut back in all neurological subspecialties during the most restrictive COVID‐19 lockdown period. The most affected neurological subspecialties were services for patients with dementia, and neuromuscular and movement disorders. The levels of reduction and the pace of recovery were distinct for acute emergencies and in‐ and outpatient care. Recovery was slow for sleep medicine, autonomic nervous system disorders, neurorehabilitation, and dementia care. (ii) Student and residency rotations and grand rounds were reorganized, and congresses were converted into a virtual format. Conferences are partly maintained in a hybrid format. (iii) Affordability of neurological care and medication shortage are emerging issues. Conclusions: Recovery of neurological services up to spring 2023 has been incomplete following substantial disruption of neurological care, medical education, and health economics in the wake of the COVID‐19 pandemic. The continued limitations for the delivery of neurological care threaten brain health and call for action on a global scale. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

Author

Beecham, Ashley, Patsopoulos, Nikolaos, Xifara, Dionysia, Davis, Mary, Kemppinen, Anu, Cotsapas, Chris, Shah, Tejas, Spencer, Chris, Booth, David, Goris, An, Oturai, Annette, Saarela, Janna, Fontaine, Bertrand, Hemmer, Bernhard, Martin, Claes, Zipp, Frauke, DAlfonso, Sandra, Martinelli-Boneschi, Filippo, Taylor, Bruce, Harbo, Hanne, Kockum, Ingrid, Hillert, Jan, Olsson, Tomas, Ban, Maria, Barizzone, Nadia, Barrett, Jeffrey, Bellenguez, Céline, Bergamaschi, Laura, Bernardinelli, Luisa, Berthele, Achim, Biberacher, Viola, Binder, Thomas, Blackburn, Hannah, Bomfim, Izaura, Brambilla, Paola, Broadley, Simon, Brochet, Bruno, Brundin, Lou, Buck, Dorothea, Butzkueven, Helmut, Caillier, Stacy, Camu, William, Carpentier, Wassila, Cavalla, Paola, Celius, Elisabeth, Coman, Irène, Comi, Giancarlo, Corrado, Lucia, Cosemans, Leentje, Cournu-Rebeix, Isabelle, Cusi, Daniele, Damotte, Vincent, Defer, Gilles, Delgado, Silvia, Deloukas, Panos, di Sapio, Alessia, Dilthey, Alexander, Donnelly, Peter, Dubois, Bénédicte, Duddy, Martin, Edkins, Sarah, Elovaara, Irina, Esposito, Federica, Evangelou, Nikos, Fiddes, Barnaby, Field, Judith, Franke, Andre, Freeman, Colin, Frohlich, Irene, Galimberti, Daniela, Gieger, Christian, Graetz, Christiane, Graham, Andrew, Grummel, Verena, Guaschino, Clara, Hadjixenofontos, Athena, Hakonarson, Hakon, Halfpenny, Christopher, Hall, Gillian, Hall, Per, Hamsten, Anders, Harley, James, Harrower, Timothy, Hawkins, Clive, Hellenthal, Garrett, Hillier, Charles, Hobart, Jeremy, Hoshi, Muni, Hunt, Sarah, Jagodic, Maja, Jelčić, Ilijas, Jochim, Angela, Kendall, Brian, Kermode, Allan, Kilpatrick, Trevor, Koivisto, Keijo, Konidari, Ioanna, Korn, Thomas, Kronsbein, Helena, and Langford, Cordelia

Subjects
Chromosome Mapping, Gene Frequency, Genetic Loci, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Multiple Sclerosis, Polymorphism, Single Nucleotide, White People
Abstract

Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.

Published
2013

18. Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

Author

International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham, Ashley H, Patsopoulos, Nikolaos A, Xifara, Dionysia K, Davis, Mary F, Kemppinen, Anu, Cotsapas, Chris, Shah, Tejas S, Spencer, Chris, Booth, David, Goris, An, Oturai, Annette, Saarela, Janna, Fontaine, Bertrand, Hemmer, Bernhard, Martin, Claes, Zipp, Frauke, D'Alfonso, Sandra, Martinelli-Boneschi, Filippo, Taylor, Bruce, Harbo, Hanne F, Kockum, Ingrid, Hillert, Jan, Olsson, Tomas, Ban, Maria, Oksenberg, Jorge R, Hintzen, Rogier, Barcellos, Lisa F, Wellcome Trust Case Control Consortium 2 (WTCCC2), International IBD Genetics Consortium (IIBDGC), Agliardi, Cristina, Alfredsson, Lars, Alizadeh, Mehdi, Anderson, Carl, Andrews, Robert, Søndergaard, Helle Bach, Baker, Amie, Band, Gavin, Baranzini, Sergio E, Barizzone, Nadia, Barrett, Jeffrey, Bellenguez, Céline, Bergamaschi, Laura, Bernardinelli, Luisa, Berthele, Achim, Biberacher, Viola, Binder, Thomas MC, Blackburn, Hannah, Bomfim, Izaura L, Brambilla, Paola, Broadley, Simon, Brochet, Bruno, Brundin, Lou, Buck, Dorothea, Butzkueven, Helmut, Caillier, Stacy J, Camu, William, Carpentier, Wassila, Cavalla, Paola, Celius, Elisabeth G, Coman, Irène, Comi, Giancarlo, Corrado, Lucia, Cosemans, Leentje, Cournu-Rebeix, Isabelle, Cree, Bruce AC, Cusi, Daniele, Damotte, Vincent, Defer, Gilles, Delgado, Silvia R, Deloukas, Panos, di Sapio, Alessia, Dilthey, Alexander T, Donnelly, Peter, Dubois, Bénédicte, Duddy, Martin, Edkins, Sarah, Elovaara, Irina, Esposito, Federica, Evangelou, Nikos, Fiddes, Barnaby, Field, Judith, Franke, Andre, Freeman, Colin, Frohlich, Irene Y, Galimberti, Daniela, Gieger, Christian, Gourraud, Pierre-Antoine, Graetz, Christiane, Graham, Andrew, Grummel, Verena, Guaschino, Clara, Hadjixenofontos, Athena, Hakonarson, Hakon, Halfpenny, Christopher, Hall, Gillian, Hall, Per, Hamsten, Anders, Harley, James, and Harrower, Timothy

Subjects
International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2, International IBD Genetics Consortium, Humans, Multiple Sclerosis, Genetic Predisposition to Disease, Chromosome Mapping, Gene Frequency, Genotype, Polymorphism, Single Nucleotide, Genetic Variation, Genome-Wide Association Study, Genetic Loci, White People, Neurosciences, Prevention, Autoimmune Disease, Genetics, Brain Disorders, Human Genome, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.

Published
2013

19. Association of Genetic Markers with CSF Oligoclonal Bands in Multiple Sclerosis Patients

Author

Leone, Maurizio A, Barizzone, Nadia, Esposito, Federica, Lucenti, Ausiliatrice, Harbo, Hanne F, Goris, An, Kockum, Ingrid, Oturai, Annette Bang, Celius, Elisabeth Gulowsen, Mero, Inger L, Dubois, Bénédicte, Olsson, Tomas, Søndergaard, Helle Bach, Cusi, Daniele, Lupoli, Sara, Andreassen, Bettina Kulle, Myhr, Kjell-Morten, Guerini, Franca R, Comi, Giancarlo, Martinelli-Boneschi, Filippo, and D'Alfonso, Sandra

Subjects
Genetics, Clinical Research, Autoimmune Disease, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adult, Female, Genetic Markers, Genome-Wide Association Study, HLA-DRB1 Chains, Humans, Male, Meta-Analysis as Topic, Middle Aged, Multiple Sclerosis, Oligoclonal Bands, Polymorphism, Single Nucleotide, Young Adult, International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2, PROGEMUS Group, PROGRESSO Group, General Science & Technology
Abstract

Objectiveto explore the association between genetic markers and Oligoclonal Bands (OCB) in the Cerebro Spinal Fluid (CSF) of Italian Multiple Sclerosis patients.MethodsWe genotyped 1115 Italian patients for HLA-DRB1*15 and HLA-A*02. In a subset of 925 patients we tested association with 52 non-HLA SNPs associated with MS susceptibility and we calculated a weighted Genetic Risk Score. Finally, we performed a Genome Wide Association Study (GWAS) with OCB status on a subset of 562 patients. The best associated SNPs of the Italian GWAS were replicated in silico in Scandinavian and Belgian populations, and meta-analyzed.ResultsHLA-DRB1*15 is associated with OCB+: p = 0.03, Odds Ratio (OR) = 1.6, 95% Confidence Limits (CL) = 1.1-2.4. None of the 52 non-HLA MS susceptibility loci was associated with OCB, except one SNP (rs2546890) near IL12B gene (OR: 1.45; 1.09-1.92). The weighted Genetic Risk Score mean was significantly (p = 0.0008) higher in OCB+ (7.668) than in OCB- (7.412) patients. After meta-analysis on the three datasets (Italian, Scandinavian and Belgian) for the best associated signals resulted from the Italian GWAS, the strongest signal was a SNP (rs9320598) on chromosome 6q (p = 9.4×10(-7)) outside the HLA region (65 Mb).Discussiongenetic factors predispose to the development of OCB.

Published
2013

20. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

Author

International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2, Sawcer, Stephen, Hellenthal, Garrett, Pirinen, Matti, Spencer, Chris CA, Patsopoulos, Nikolaos A, Moutsianas, Loukas, Dilthey, Alexander, Su, Zhan, Freeman, Colin, Hunt, Sarah E, Edkins, Sarah, Gray, Emma, Booth, David R, Potter, Simon C, Goris, An, Band, Gavin, Oturai, Annette Bang, Strange, Amy, Saarela, Janna, Bellenguez, Céline, Fontaine, Bertrand, Gillman, Matthew, Hemmer, Bernhard, Gwilliam, Rhian, Zipp, Frauke, Jayakumar, Alagurevathi, Martin, Roland, Leslie, Stephen, Hawkins, Stanley, Giannoulatou, Eleni, D'alfonso, Sandra, Blackburn, Hannah, Martinelli Boneschi, Filippo, Liddle, Jennifer, Harbo, Hanne F, Perez, Marc L, Spurkland, Anne, Waller, Matthew J, Mycko, Marcin P, Ricketts, Michelle, Comabella, Manuel, Hammond, Naomi, Kockum, Ingrid, McCann, Owen T, Ban, Maria, Whittaker, Pamela, Kemppinen, Anu, Weston, Paul, Hawkins, Clive, Widaa, Sara, Zajicek, John, Dronov, Serge, Robertson, Neil, Bumpstead, Suzannah J, Barcellos, Lisa F, Ravindrarajah, Rathi, Abraham, Roby, Alfredsson, Lars, Ardlie, Kristin, Aubin, Cristin, Baker, Amie, Baker, Katharine, Baranzini, Sergio E, Bergamaschi, Laura, Bergamaschi, Roberto, Bernstein, Allan, Berthele, Achim, Boggild, Mike, Bradfield, Jonathan P, Brassat, David, Broadley, Simon A, Buck, Dorothea, Butzkueven, Helmut, Capra, Ruggero, Carroll, William M, Cavalla, Paola, Celius, Elisabeth G, Cepok, Sabine, Chiavacci, Rosetta, Clerget-Darpoux, Françoise, Clysters, Katleen, Comi, Giancarlo, Cossburn, Mark, Cournu-Rebeix, Isabelle, Cox, Mathew B, Cozen, Wendy, Cree, Bruce AC, Cross, Anne H, Cusi, Daniele, Daly, Mark J, Davis, Emma, de Bakker, Paul IW, Debouverie, Marc, D'hooghe, Marie Beatrice, Dixon, Katherine, Dobosi, Rita, Dubois, Bénédicte, and Ellinghaus, David

Subjects
International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2, T-Lymphocytes, Helper-Inducer, Humans, Multiple Sclerosis, Genetic Predisposition to Disease, HLA-A Antigens, HLA-DR Antigens, Sample Size, Cell Differentiation, Immunity, Cellular, Major Histocompatibility Complex, Polymorphism, Single Nucleotide, Alleles, Genome, Human, Europe, Genome-Wide Association Study, HLA-DRB1 Chains, Genetics, Neurosciences, Neurodegenerative, Clinical Research, Brain Disorders, Autoimmune Disease, Human Genome, 2.1 Biological and endogenous factors, Neurological, Inflammatory and immune system, General Science & Technology
Abstract

Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.

Published
2011

21. Can early-onset acquired demyelinating syndrome (ADS) hide pediatric Behcet's disease? A case report

Author

Pozzato, Mattia, primary, Dilena, Robertino, additional, Rogani, Greta, additional, Beretta, Gisella, additional, Torreggiani, Sofia, additional, Lanni, Stefano, additional, Tozzo, Alessandra, additional, Andreetta, Francesca, additional, Cavalcante, Paola, additional, Triulzi, Fabio, additional, Martinelli Boneschi, Filippo, additional, Minoia, Francesca, additional, and Filocamo, Giovanni, additional

Published
2023
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23. HIF-1α regulates the interaction of chronic lymphocytic leukemia cells with the tumor microenvironment

Author

Valsecchi, Roberta, Coltella, Nadia, Belloni, Daniela, Ponente, Manfredi, ten Hacken, Elisa, Scielzo, Cristina, Scarfò, Lydia, Bertilaccio, Maria Teresa Sabrina, Brambilla, Paola, Lenti, Elisa, Martinelli Boneschi, Filippo, Brendolan, Andrea, Ferrero, Elisabetta, Ferrarini, Marina, Ghia, Paolo, Tonon, Giovanni, Ponzoni, Maurilio, Caligaris-Cappio, Federico, and Bernardi, Rosa

Published
2016
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24. A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility

Author

Esposito, Federica, primary, Osiceanu, Ana Maria, additional, Sorosina, Melissa, additional, Ottoboni, Linda, additional, Bollman, Bryan, additional, Santoro, Silvia, additional, Bettegazzi, Barbara, additional, Zauli, Andrea, additional, Clarelli, Ferdinando, additional, Mascia, Elisabetta, additional, Calabria, Andrea, additional, Zacchetti, Daniele, additional, Capra, Ruggero, additional, Ferrari, Maurizio, additional, Provero, Paolo, additional, Lazarevic, Dejan, additional, Cittaro, Davide, additional, Carrera, Paola, additional, Patsopoulos, Nikolaos, additional, Toniolo, Daniela, additional, Sadovnick, A Dessa, additional, Martino, Gianvito, additional, De Jager, Philip L., additional, Comi, Giancarlo, additional, Stupka, Elia, additional, Vilariño-Güell, Carles, additional, Piccio, Laura, additional, and Martinelli Boneschi, Filippo, additional

Published
2022
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25. Correction to: COVID‑19‑associated Guillain‑Barré syndrome in the early pandemic experience in Lombardia (Italy)

Author

Martinelli‑Boneschi, Filippo, primary, Colombo, Antonio, additional, Bresolin, Nereo, additional, Sessa, Maria, additional, Bassi, Pietro, additional, Grampa, Giampiero, additional, Magni, Eugenio, additional, Versino, Maurizio, additional, Ferrarese, Carlo, additional, Zarcone, Davide, additional, Albanese, Alberto, additional, Micieli, Giuseppe, additional, Zanferrari, Carla, additional, Cagnana, Antonio, additional, Ferrante, Claudio, additional, Zilioli, Angelo, additional, Locatelli, Davide, additional, Calloni, Maria Vittoria, additional, Delodovici, Maria Luisa, additional, Pozzato, Mattia, additional, Patisso, Valerio, additional, Bortolan, Francesco, additional, Foresti, Camillo, additional, Frigeni, Barbara, additional, Canella, Stefania, additional, Xhani, Rubjona, additional, Crabbio, Massimo, additional, Clemenzi, Alessandro, additional, Mauri, Marco, additional, Beretta, Simone, additional, La Spina, Isidoro, additional, Bernasconi, Simona, additional, De Santis, Tiziana, additional, Cavallini, Anna, additional, Ranieri, Michela, additional, D’Adda, Elisabetta, additional, Fruguglietti, Maria Elisa, additional, Peverelli, Lorenzo, additional, Agosti, Edoardo, additional, Leoni, Olivia, additional, Rigamonti, Andrea, additional, and Salmaggi, Andrea, additional

Published
2022
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26. COVID-19-associated Guillain-Barré syndrome in the early pandemic experience in Lombardia (Italy)

Author

Martinelli-Boneschi, Filippo, primary, Colombo, Antonio, additional, Bresolin, Nereo, additional, Sessa, Maria, additional, Bassi, Pietro, additional, Grampa, Giampiero, additional, Magni, Eugenio, additional, Versino, Maurizio, additional, Ferrarese, Carlo, additional, Zarcone, Davide, additional, Albanese, Alberto, additional, Micieli, Giuseppe, additional, Zanferrari, Carla, additional, Cagnana, Antonio, additional, Ferrante, Claudio, additional, Zilioli, Angelo, additional, Locatelli, Davide, additional, Calloni, Maria Vittoria, additional, Delodovici, Maria Luisa, additional, Pozzato, Mattia, additional, Patisso, Valerio, additional, Bortolan, Francesco, additional, Foresti, Camillo, additional, Frigeni, Barbara, additional, Canella, Stefania, additional, Xhani, Rubjona, additional, Crabbio, Massimo, additional, Clemenzi, Alessandro, additional, Mauri, Marco, additional, Beretta, Simone, additional, La Spina, Isidoro, additional, Bernasconi, Simona, additional, De Santis, Tiziana, additional, Cavallini, Anna, additional, Ranieri, Michela, additional, D’Adda, Elisabetta, additional, Fruguglietti, Maria Elisa, additional, Peverelli, Lorenzo, additional, Agosti, Edoardo, additional, Leoni, Olivia, additional, Rigamonti, Andrea, additional, and Salmaggi, Andrea, additional

Published
2022
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27. Involvement of NINJ2 Protein in Inflammation and Blood–Brain Barrier Transmigration of Monocytes in Multiple Sclerosis

Author

Sorosina, Melissa, primary, Peroni, Silvia, additional, Mascia, Elisabetta, additional, Santoro, Silvia, additional, Osiceanu, Ana Maria, additional, Ferrè, Laura, additional, Clarelli, Ferdinando, additional, Giordano, Antonino, additional, Cannizzaro, Miryam, additional, Martinelli Boneschi, Filippo, additional, Filippi, Massimo, additional, and Esposito, Federica, additional

Published
2022
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30. Peripheral nerve morphogenesis induced by scaffold micropatterning

Author

Cerri, Federica, Salvatore, Luca, Memon, Danish, Martinelli Boneschi, Filippo, Madaghiele, Marta, Brambilla, Paola, Del Carro, Ubaldo, Taveggia, Carla, Riva, Nilo, Trimarco, Amelia, Lopez, Ignazio D., Comi, Giancarlo, Pluchino, Stefano, Martino, Gianvito, Sannino, Alessandro, and Quattrini, Angelo

Published
2014
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31. Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.

Author

Almomani, Rowida, Sopacua, Maurice, Marchi, Margherita, Ślęczkowska, Milena, Lindsey, Patrick, de Greef, Bianca T. A., Hoeijmakers, Janneke G. J., Salvi, Erika, Merkies, Ingemar S. J., Ferdousi, Maryam, Malik, Rayaz A., Ziegler, Dan, Derks, Kasper W. J., Boenhof, Gidon, Martinelli-Boneschi, Filippo, Cazzato, Daniele, Lombardi, Raffaella, Dib-Hajj, Sulayman, Waxman, Stephen G., and Smeets, Hubert J. M.

Subjects
SODIUM channels, NUCLEOTIDE sequencing, DIABETIC neuropathies, PERIPHERAL neuropathy, DISEASE management
Abstract

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, counselling and intervention. Our aims were to profile ten sodium channel genes (SCG) expressed in a nociceptive pathway in painful and painless DPN and painful and painless SFN patients, and to provide a perspective for clinicians who assess patients with painful peripheral neuropathy. Between June 2014 and September 2016, 1125 patients with painful-DPN (n = 237), painless-DPN (n = 309), painful-SFN (n = 547) and painless-SFN (n = 32), recruited in four different centers, were analyzed for SCN3A, SCN7A-SCN11A and SCN1B-SCN4B variants by single molecule Molecular inversion probes-Next Generation Sequence. Patients were grouped based on phenotype and the presence of SCG variants. Screening of SCN3A, SCN7A-SCN11A, and SCN1B-SCN4B revealed 125 different (potential) pathogenic variants in 194 patients (17.2%, n = 194/1125). A potential pathogenic variant was present in 18.1% (n = 142/784) of painful neuropathy patients vs. 15.2% (n = 52/341) of painless neuropathy patients (17.3% (n = 41/237) for painful-DPN patients, 14.9% (n = 46/309) for painless-DPN patients, 18.5% (n = 101/547) for painful-SFN patients, and 18.8% (n = 6/32) for painless-SFN patients). Of the variants detected, 70% were in SCN7A, SCN9A, SCN10A and SCN11A. The frequency of SCN9A and SCN11A variants was the highest in painful-SFN patients, SCN7A variants in painful-DPN patients, and SCN10A variants in painless-DPN patients. Our findings suggest that rare SCG genetic variants may contribute to the development of painful neuropathy. Genetic profiling and SCG variant identification should aid in a better understanding of the genetic variability in patients with painful and painless neuropathy, and may lead to better risk stratification and the development of more targeted and personalized pain treatments. [ABSTRACT FROM AUTHOR]

Published
2023
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35. COVID-19 vaccination hesitancy among people with chronic neurological disorders: A position paper

Author

Rakusa, Martin, Öztürk, Serefnur, Moro, Elena, Helbok, Raimund, Bassetti, Claudio L, Beghi, Ettore, Bereczki, Daniel, Bodini, Benedetta, Di Liberto, Giovanni, Jenkins, Thomas M, Macerollo, Antonella, Maia, Luis F, Martinelli-Boneschi, Filippo, Pisani, Antonio, Priori, Alberto, Sauerbier, Anna, Soffietti, Riccardo, Taba, Pille, von Oertzen, Tim J, Zedde, Marialuisa, Crean, Michael, Burlica, Anja, Cavallieri, Francesco, and Sellner, Johann

Subjects
advocacy, COVID-19 Vaccines, SARS-CoV-2, neurological disorders, Vaccination, COVID-19, 610 Medicine & health, infectious disease prevention, vaccination, vaccine skepticism, Humans, Pandemics, Nervous System Diseases, Vaccination Hesitancy, Post-Acute COVID-19 Syndrome, Neurology, Settore MED/26 - Neurologia, Neurology (clinical), 610 Medizin und Gesundheit
Abstract

BACKGROUND Health risks associated with SARS-CoV-2 infection are undisputed. Moreover, the capability of vaccination to prevent symptomatic, severe and fatal COVID-19 is recognized. There is also early evidence that vaccination can reduce the chance for long COVID-19. Nonetheless, the willingness to get vaccinated and receive booster shots remains subpar among people with neurologic disorders. Vaccine scepticism not only jeopardizes collective efforts to end the COVID-19 pandemic but puts individual lives at risk as some chronic neurologic diseases are associated with a higher risk for an unfavorable COVID-19 course. AIM In this position paper, the NeuroCOVID-19 Task Force of the European Academy of Neurology (EAN) summarizes the current knowledge on the prognosis of COVID-19 among patients with neurologic disease, elucidates potential barriers to vaccination coverage and formulates strategies to overcome vaccination hesitancy. A survey among the task force members on the phenomenon of vaccination hesitancy among people with neurologic disease supports the lines of argumentation. RESULTS The study revealed that people with multiple sclerosis and other nervous system autoimmune disorders are most skeptical of SARS-CoV-2 vaccination. The prevailing concerns included the chance of worsening the pre-existing neurological condition, vaccination-related adverse events, and drug interaction. RECOMMENDATIONS The EAN NeuroCOVID-19 task force reinforces the key role of neurologists as advocates of COVID-19 vaccination. Neurologists need to argue in the interest of their patients about the overwhelming individual and global benefits of COVID-19 vaccination. Moreover, they need to keep on eye on this vulnerable patient group, their concerns and the emergence of potential safety signals.

Published
2022

36. COL6A5 variants in familial neuropathic chronic itch

Author

Martinelli-Boneschi, Filippo, Colombi, Marina, Castori, Marco, Devigili, Grazia, Eleopra, Roberto, Malik, Rayaz A., Ritelli, Marco, Zoppi, Nicoletta, Dordoni, Chiara, Sorosina, Melissa, Grammatico, Paola, Fadavi, Hassan, Gerrits, Monique M., Almomani, Rowida, Faber, Catharina G., Merkies, Ingemar S. J., Toniolo, Daniela, Cocca, Massimiliano, Doglioni, Claudio, Waxman, Stephen G., Dib-Hajj, Sulayman D., Taiana, Michela M., Sassone, Jenny, Lombardi, Raffaella, Cazzato, Daniele, Zauli, Andrea, Santoro, Silvia, Marchi, Margherita, and Lauria, Giuseppe

Published
2017
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38. Patient-Reported Symptoms and Sequelae 12 Months After COVID-19 in Hospitalized Adults: A Multicenter Long-Term Follow-Up Study

Author

Comelli, Agnese, primary, Viero, Giulia, additional, Bettini, Greta, additional, Nobili, Alessandro, additional, Tettamanti, Mauro, additional, Galbussera, Alessia Antonella, additional, Muscatello, Antonio, additional, Mantero, Marco, additional, Canetta, Ciro, additional, Martinelli Boneschi, Filippo, additional, Arighi, Andrea, additional, Brambilla, Paolo, additional, Vecchi, Maurizio, additional, Lampertico, Pietro, additional, Bonfanti, Paolo, additional, Contoli, Marco, additional, Blasi, Francesco, additional, Gori, Andrea, additional, and Bandera, Alessandra, additional

Published
2022
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40. An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients

Author

Barizzone, Nadia, primary, Cagliani, Rachele, additional, Basagni, Chiara, additional, Clarelli, Ferdinando, additional, Mendozzi, Laura, additional, Agliardi, Cristina, additional, Forni, Diego, additional, Tosi, Martina, additional, Mascia, Elisabetta, additional, Favero, Francesco, additional, Corà, Davide, additional, Corrado, Lucia, additional, Sorosina, Melissa, additional, Esposito, Federica, additional, Zuccalà, Miriam, additional, Vecchio, Domizia, additional, Liguori, Maria, additional, Comi, Cristoforo, additional, Comi, Giancarlo, additional, Martinelli, Vittorio, additional, Filippi, Massimo, additional, Leone, Maurizio, additional, Martinelli-Boneschi, Filippo, additional, Caputo, Domenico, additional, Sironi, Manuela, additional, Guerini, Franca Rosa, additional, and D’Alfonso, Sandra, additional

Published
2021
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41. Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire)

Author

Pilotto, Silvy, primary, Gencarelli, Jessica, additional, Bova, Stefania, additional, Gerosa, Leonardo, additional, Baroncini, Damiano, additional, Olivotto, Sara, additional, Alfei, Enrico, additional, Zaffaroni, Mauro, additional, Suppiej, Agnese, additional, Cocco, Eleonora, additional, Trojano, Maria, additional, Amato, Maria Pia, additional, D'Alfonso, Sandra, additional, Martinelli-Boneschi, Filippo, additional, Waubant, Emmanuelle, additional, Ghezzi, Angelo, additional, Bergamaschi, Roberto, additional, and Pugliatti, Maura, additional

Published
2021
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42. Impact of SARS-CoV-2 infection on acute intracerebral haemorrhage in northern Italy

Author

Sangalli, Davide, Martinelli-Boneschi, Filippo, Versino, Maurizio, Colombo, Irene, Ciccone, Alfonso, Beretta, Simone, Marcheselli, Simona, Altavilla, Riccardo, Roncoroni, Mauro, Beretta, Sandro, Lorusso, Lorenzo, Cavallini, Anna, Prelle, Alessandro, Guidetti, Donata, La Gioia, Sara, Santalucia, Paola, Zanferrari, Carla, Grampa, Giampiero, D'Adda, Elisabetta, Peverelli, Lorenzo, Colombo, Antonio, and Salmaggi, Andrea

Published
2021
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43. SARS-CoV-2 serology after COVID-19 in multiple sclerosis: An international cohort study

Author

Sormani, Maria Pia, primary, Schiavetti, Irene, additional, Landi, Doriana, additional, Carmisciano, Luca, additional, De Rossi, Nicola, additional, Cordioli, Cinzia, additional, Moiola, Lucia, additional, Radaelli, Marta, additional, Immovilli, Paolo, additional, Capobianco, Marco, additional, Brescia Morra, Vincenzo, additional, Trojano, Maria, additional, Tedeschi, Gioacchino, additional, Comi, Giancarlo, additional, Battaglia, Mario Alberto, additional, Patti, Francesco, additional, Fragoso, Yara Dadalti, additional, Sen, Sedat, additional, Siva, Aksel, additional, Furlan, Roberto, additional, Salvetti, Marco, additional, Abbadessa, Gianmarco, additional, Aguglia, Umberto, additional, Allegorico, Lia, additional, Allegri, Rossi Beatrice Maria, additional, Amato, Maria Pia, additional, Annovazzi, Pietro, additional, Antozzi, Carlo, additional, Appendino, Lucia, additional, Arena, Sebastiano, additional, Baione, Viola, additional, Balgera, Roberto, additional, Barcella, Valeria, additional, Baroncini, Damiano, additional, Barrilà, Caterina, additional, Battaglia, Mario A., additional, Bellacosa, Alessandra, additional, Bellucci, Gianmarco, additional, Bergamaschi, Roberto, additional, Bergamaschi, Valeria, additional, Bezzini, Daiana, additional, Biolzi, Beatrice, additional, Bisecco, Alvino, additional, Bonavita, Simona, additional, Borriello, Giovanna, additional, Bosa, Chiara, additional, Bosco, Antonio, additional, Bovis, Francesca, additional, Bozzali, Marco, additional, Brambilla, Laura, additional, Brescia, Morra Vincenzo, additional, Brichetto, Giampaolo, additional, Buccafusca, Maria, additional, Bucciantini, Elisabetta, additional, Bucello, Sebastiano, additional, Buscarinu, Maria Chiara, additional, Cabboi, Maria Paola, additional, Calabrese, Massimiliano, additional, Calabria, Francesca, additional, Caleri, Francesca, additional, Camilli, Federico, additional, Caniatti, Luisa Maria, additional, Cantello, Roberto, additional, Capra, Ruggero, additional, Capuano, Rocco, additional, Carta, Patrizia, additional, Cavalla, Paola, additional, Celani, Maria Grazia, additional, Cellerino, Maria, additional, Cerqua, Raffaella, additional, Chisari, Clara, additional, Clerici, Raffaella, additional, Clerico, Marinella, additional, Cocco, Eleonora, additional, Cola, Gaia, additional, Confalonieri, Paolo, additional, Conte, Antonella, additional, Conti, Marta Zaffira, additional, Cordano, Christian, additional, Cordera, Susanna, additional, Corea, Francesco, additional, Correale, Claudio, additional, Cottone, Salvatore, additional, Crescenzo, Francesco, additional, Curti, Erica, additional, d’Ambrosio, Alessandro, additional, D’Amico, Emanuele, additional, Danni, Maura Chiara, additional, d’Arma, Alessia, additional, Dattola, Vincenzo, additional, de Biase, Stefano, additional, De Luca, Giovanna, additional, De Mercanti, Stefania Federica, additional, De Mitri, Paolo, additional, De Stefano, Nicola, additional, Della Cava, Marco, additional, di Napoli, Mario, additional, Di Sapio, Alessia, additional, Docimo, Renato, additional, Dutto, Anna, additional, Evangelista, Luana, additional, Fanara, Salvatore, additional, Ferraro, Diana, additional, Ferrò, Maria Teresa, additional, Filippi, Massimo, additional, Fioretti, Cristina, additional, Fratta, Mario, additional, Frau, Jessica, additional, Fronza, Marzia, additional, Gajofatto, Alberto, additional, Gallo, Antonio, additional, Gallo, Paolo, additional, Gasperini, Claudio, additional, Ghazaryan, Anna, additional, Giometto, Bruno, additional, Gobbin, Francesca, additional, Govone, Flora, additional, Granella, Franco, additional, Grange, Erica, additional, Grasso, Maria Grazia, additional, Guareschi, Angelica, additional, Guaschino, Clara, additional, Guerrieri, Simone, additional, Guidetti, Donata, additional, Iaffaldano, Pietro, additional, Ianniello, Antonio, additional, Iasevoli, Luigi, additional, Imperiale, Daniele, additional, Infante, Maria Teresa, additional, Inglese, Matilde, additional, Iodice, Rosa, additional, Iovino, Aniello, additional, Konrad, Giovanna, additional, Lanzillo, Roberta, additional, Lapucci, Caterina, additional, Lavorgna, Luigi, additional, L’Episcopo Maria, Rita, additional, Leva, Serena, additional, Liberatore, Giuseppe, additional, Lo Re, Marianna, additional, Longoni, Marco, additional, Lopiano, Leonardo, additional, Lorefice, Lorena, additional, Lucchini, Matteo, additional, Lus, Giacomo, additional, Maimone, Davide, additional, Malentacchi, Maria, additional, Mallucci, Giulia, additional, Malucchi, Simona, additional, Mancinelli, Chiara Rosa, additional, Mancinelli, Luca, additional, Manganotti, Paolo, additional, Maniscalco, Teresa Giorgia, additional, Mantero, Vittorio, additional, Marangoni, Sabrina, additional, Marastoni, Damiano, additional, Marfia, Alessandra Girolama, additional, Marinelli, Fabiana, additional, Marti, Alessandro, additional, Martinelli Boneschi, Filippo, additional, Masserano Zoli, Federco, additional, Matta, Francesca, additional, Mendozzi, Laura, additional, Meucci, Giuseppe, additional, Miante, Silvia, additional, Miele, Giuseppina, additional, Milano, Eva, additional, Mirabella, Massimiliano, additional, Missione, Rosanna, additional, Moccia, Marcello, additional, Montepietra, Sara, additional, Monti Bragadin, Margherita, additional, Montini, Federico, additional, Motta, Roberta, additional, Nardone, Raffaele, additional, Nicoletti, Carolina Gabri, additional, Nobile-Orazio, Eduardo, additional, Nozzolillo, Agostino, additional, Onofrj, Marco, additional, Orlandi, Riccardo, additional, Palmieri, Anna, additional, Paolicelli, Damiano, additional, Pasquali, Livia, additional, Pastò, Luisa, additional, Pedrazzoli, Elisabetta, additional, Perini, Paola, additional, Pesci, Ilaria, additional, Petracca, Maria, additional, Petrone, Alfredo, additional, Piantadosi, Carlo, additional, Pietroboni, Anna M., additional, Pinardi, Federica, additional, Ponzano, Marta, additional, Portaccio, Emilio, additional, Pozzato, Mattia, additional, Pozzilli, Carlo, additional, Prosperini, Luca, additional, Protti, Alessandra, additional, Ragonese, Paolo, additional, Rasia, Sarah, additional, Realmuto, Sabrina, additional, Repice, Anna, additional, Rigoni, Eleonora, additional, Rilla, Maria Teresa, additional, Rinaldi, Francesca, additional, Romano, Calogero Marcello, additional, Ronzoni, Marco, additional, Rovaris, Marco, additional, Ruscica, Francesca, additional, Sabattini, Loredana, additional, Salemi, Giuseppe, additional, Saraceno, Lorenzo, additional, Sartori, Alessia, additional, Sartori, Arianna, additional, Sbragia, Elvira, additional, Scandellari, Cinzia, additional, Scarano Giuditta, Ilaria, additional, Scarano, Valentina, additional, Schillaci, Valentina, additional, Sessa, Maria, additional, Sgarito, Caterina, additional, Sibilia, Grazia, additional, Siciliano, Gabriele, additional, Signori, Alessio, additional, Signoriello, Elisabetta, additional, Sinisi, Leonardo, additional, Sireci, Francesca, additional, Sola, Patrizia, additional, Solaro, Claudio, additional, Sormani, Maria Pia, additional, Sotgiu, Stefano, additional, Sparaco, Maddalena, additional, Stromillo, Maria Laura, additional, Strumia, Silvia, additional, Susani, Laura Emanuela, additional, Tabiadon, Giulietta, additional, Teatini, Francesco, additional, Tomassini, Valentina, additional, Tonietti, Simone, additional, Torri, Clerici Valentina, additional, Tortorella, Carla, additional, Toscano, Simona, additional, Totaro, Rocco, additional, Trotta, Maria, additional, Turano, Gabriella, additional, Ulivelli, Monica, additional, Valentino, Manzo, additional, Vaula, Giovanna, additional, Vecchio, Domizia, additional, Vercellino, Marco, additional, Verrengia, Elena Pinuccia, additional, Vianello, Marika, additional, Virgilio, Eleonora, additional, Vitetta, Francesca, additional, Vollaro, Stefano, additional, Zaffaroni, Mauro, additional, Zampolini, Mauro, additional, Zarbo, Ignazio Roberto, additional, Zito, Antonio, additional, and Zuliani, Luigi, additional

Published
2021
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46. A pharmacogenetic study implicates SLC9a9 in multiple sclerosis disease activity

Author

Esposito, Federica, Sorosina, Melissa, Ottoboni, Linda, Lim, Elaine T., Replogle, Joseph M., Raj, Towfique, Brambilla, Paola, Liberatore, Giuseppe, Guaschino, Clara, Romeo, Marzia, Pertel, Thomas, Stankiewicz, James M., Martinelli, Vittorio, Rodegher, Mariaemma, Weiner, Howard L., Brassat, David, Benoist, Christophe, Patsopoulos, Nikolaos A., Comi, Giancarlo, Elyaman, Wassim, Martinelli Boneschi, Filippo, and De Jager, Philip L.

Published
2015
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48. sj-docx-1-mso-10.1177_20552173211059048 - Supplemental material for Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire)

Author

Pilotto, Silvy, Gencarelli, Jessica, Bova, Stefania, Gerosa, Leonardo, Baroncini, Damiano, Olivotto, Sara, Alfei, Enrico, Zaffaroni, Mauro, Suppiej, Agnese, Cocco, Eleonora, Trojano, Maria, Amato, Maria Pia, D'Alfonso, Sandra, Martinelli-Boneschi, Filippo, Waubant, Emmanuelle, Ghezzi, Angelo, Bergamaschi, Roberto, and Pugliatti, Maura

Subjects
FOS: Clinical medicine, 110904 Neurology and Neuromuscular Diseases, Neuroscience
Abstract

Supplemental material, sj-docx-1-mso-10.1177_20552173211059048 for Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire) by Silvy Pilotto, Jessica Gencarelli, Stefania Bova, Leonardo Gerosa, Damiano Baroncini, Sara Olivotto, Enrico Alfei, Mauro Zaffaroni, Agnese Suppiej, Eleonora Cocco, Maria Trojano, Maria Pia Amato, Sandra D'Alfonso and Filippo Martinelli-Boneschi, Emmanuelle Waubant, Angelo Ghezzi, Roberto Bergamaschi, Maura Pugliatti in Multiple Sclerosis Journal ��� Experimental, Translational and Clinical

Published
2021
Full Text
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49. sj-docx-2-mso-10.1177_20552173211059048 - Supplemental material for Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire)

Author

Pilotto, Silvy, Gencarelli, Jessica, Bova, Stefania, Gerosa, Leonardo, Baroncini, Damiano, Olivotto, Sara, Alfei, Enrico, Zaffaroni, Mauro, Suppiej, Agnese, Cocco, Eleonora, Trojano, Maria, Amato, Maria Pia, D'Alfonso, Sandra, Martinelli-Boneschi, Filippo, Waubant, Emmanuelle, Ghezzi, Angelo, Bergamaschi, Roberto, and Pugliatti, Maura

Subjects
FOS: Clinical medicine, 110904 Neurology and Neuromuscular Diseases, Neuroscience
Abstract

Supplemental material, sj-docx-2-mso-10.1177_20552173211059048 for Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire) by Silvy Pilotto, Jessica Gencarelli, Stefania Bova, Leonardo Gerosa, Damiano Baroncini, Sara Olivotto, Enrico Alfei, Mauro Zaffaroni, Agnese Suppiej, Eleonora Cocco, Maria Trojano, Maria Pia Amato, Sandra D'Alfonso and Filippo Martinelli-Boneschi, Emmanuelle Waubant, Angelo Ghezzi, Roberto Bergamaschi, Maura Pugliatti in Multiple Sclerosis Journal ��� Experimental, Translational and Clinical

Published
2021
Full Text
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