Maria Barbara Pasanisi

Scopus Publications

Serum miR-199a-3p and miR-103a-3p are possible biomarkers for the onset of multiple sclerosis
Simone Agostini, Roberta Mancuso, Maria Barbara Pasanisi, Riccardo Nuzzi, Laura Antolini, et al.
Scientific Reports, 2026
“Natural history of skeletal muscle laminopathies: a 2-year prospective study”
Luca Spiro Santovito, Silvia Bonanno, Maria Barbara Pasanisi, Annamaria Gallone, Federica Ricci, et al.
Neuromuscular Disorders, 2025
Toward a Unified Definition of Progression Independent of Relapse Activity in Multiple Sclerosis
Emilio Portaccio, Matteo Betti, Ermelinda De Meo, Luisa Pastò, Elio Prestipino, et al.
Neurology, 2025
Serum miR-34a-5p, miR-103a-3p, and miR-376a-3p as possible biomarkers of conversion from relapsing-remitting to secondary progressive multiple sclerosis
Simone Agostini, Roberta Mancuso, Lorenzo Agostino Citterio, Domenico Caputo, Letizia Oreni, et al.
Neurobiology of Disease, 2024
Myelin Basic Protein in Oligodendrocyte-Derived Extracellular Vesicles as a Diagnostic and Prognostic Biomarker in Multiple Sclerosis: A Pilot Study
Cristina Agliardi, Franca Rosa Guerini, Milena Zanzottera, Elisabetta Bolognesi, Silvia Picciolini, et al.
International Journal of Molecular Sciences, 2023
Approximately 15% of multiple sclerosis (MS) patients develop a progressive form of disease from onset; this condition (primary progressive-PP) MS is difficult to diagnose and treat, and is associated with a poor prognosis. Extracellular vesicles (EVs) of brain origin isolated from blood and their protein cargoes could function as a biomarker of pathological conditions. We verified whether MBP and MOG content in oligodendrocytes-derived EVs (ODEVs) could be biomarkers of MS and could help in the differential diagnosis of clinical MS phenotypes. A total of 136 individuals (7 clinically isolated syndrome (CIS), 18 PPMS, 49 relapsing remitting (RRMS)) and 70 matched healthy controls (HC) were enrolled. ODEVs were enriched from serum by immune-capture with anti-MOG antibody; MBP and MOG protein cargoes were measured by ELISA. MBP concentration in ODEVs was significantly increased in CIS (p < 0.001), RRMS (p < 0.001) and PPMS (p < 0.001) compared to HC and was correlated with disease severity measured by EDSS and MSSS. Notably, MBP concentration in ODEVs was also significantly augmented in PPMS compared to RRMS (p = 0.004) and CIS (p = 0.03). Logistic regression and ROC analyses confirmed these results. A minimally invasive blood test measuring the concentration of MBP in ODEVs is a promising tool that could facilitate MS diagnosis.
Two Single Nucleotide Polymorphisms in the Purinergic Receptor P2X7 Gene Are Associated with Disease Severity in Multiple Sclerosis
Franca Rosa Guerini, Cristina Agliardi, Elisabetta Bolognesi, Milena Zanzottera, Domenico Caputo, et al.
International Journal of Molecular Sciences, 2022
Multiple sclerosis (MS) is a chronic autoimmune inflammatory disease of the central nervous system (CNS) that leads to progressive physical disability. Recent evidence has suggested that P2X7 receptor (P2X7R)-mediated purinergic signalling pathways play a role in MS-associated neuroinflammation, possibly contributing to disease pathogenesis. To evaluate possible associations between P2X7R polymorphisms and MS disease severity, we performed an association study of five non-synonymous SNPs coding variants of the P2X7R gene: rs1718119 Ala348Thr, rs2230911 Thr357Ser, rs2230912 Gln460Arg, rs3751143 Glu496Ala, and rs28360457 Arg307Gln, modulating P2X7R expression in 128 MS patients (relapsing remitting MS, RRMS: n = 94; secondary progressive, SPMS: n = 34). All patients were genotyped, and multiple sclerosis severity score (MSSS) was evaluated in every case; 189 healthy subjects were enrolled as well as controls. Results showed that P2X7R rs1718119(A) 348Thr and rs22390912(G) 464Arg, two SNPs of minor allele frequency (MAF) known to confer gain of function to the P2X7R protein, were associated with significantly higher MSSS in RRMS patients alone (SMRR (p < 0.001, p = 0.01, respectively)). Interestingly, two whole haplotypes resulted in having significant association with MSSS in these same patients. Thus: (1) the P2X7R-4 “ACGAG” haplotype, characterized by the co-presence of the rs1718119-rs2230912 AG MAF alleles, was associated with higher MSSS (Beta: 1.11 p = 0.04), and (2) the P2X7R-1 “GCAAG” complementary haplotype, which contains the rs1718119 and rs2230912 GA wild-type alleles, was more frequently carried by patients with lower MSSS and less severe disease (Beta: −1.54 p < 0.001). Although being preliminary and needing confirmation in an ampler cohort, these results suggest that 348Thr and 464Arg variants have a role as modulators of disease severity in RRMS patients.
Dietary habits, nutritional status and risk of a first demyelinating event: an incident case-control study in a southern European cohort
Paola Cavalla, Paola Golzio, Daniela Maietta, Chiara Bosa, Maria Barbara Pasanisi, et al.
Neurological Sciences, 2022
Acute and chronic synaptic pathology in multiple sclerosis gray matter
Marco Vercellino, Stella Marasciulo, Silvia Grifoni, Elena Vallino-Costassa, Chiara Bosa, et al.
Multiple Sclerosis Journal, 2022
Objectives: To investigate the extent of synaptic loss, and the contribution of gray matter (GM) inflammation and demyelination to synaptic loss, in multiple sclerosis (MS) brain tissue. Methods: This study was performed on two different post-mortem series of MS and control brains, including deep GM and cortical GM. MS brain samples had been specifically selected for the presence of active demyelinating GM lesions. Over 1,000,000 individual synapses were identified and counted using confocal microscopy, and further characterized as glutamatergic/GABAergic. Synaptic counts were also correlated with neuronal/axonal loss. Results: Important synaptic loss was observed in active demyelinating GM lesions (−58.9%), while in chronic inactive GM lesions, synaptic density was only mildly reduced compared to adjacent non-lesional gray matter (NLGM) (−12.6%). Synaptic loss equally affected glutamatergic and GABAergic synapses. Diffuse synaptic loss was observed in MS NLGM compared to control GM (−21.2% overall). Conclusion: This study provides evidence, in MS brain tissue, of acute synaptic damage/loss during active GM inflammatory demyelination and of synaptic reorganization in chronically demyelinated GM, affecting equally glutamatergic and GABAergic synapses. Furthermore, this study provides a strong indication of widespread synaptic loss in MS NLGM also independently from focal GM demyelination.
Eculizumab in refractory generalized myasthenia gravis previously treated with rituximab: subgroup analysis of REGAIN and its extension study
Zaeem A. Siddiqi, Richard J. Nowak, Tahseen Mozaffar, Fanny O'Brien, Marcus Yountz, et al.
Muscle and Nerve, 2021
Introduction/AimsIndividuals with refractory generalized myasthenia gravis (gMG) who have a history of rituximab use and experience persistent symptoms represent a population with unmet treatment needs. The aim of this analysis was to evaluate the efficacy and safety of eculizumab in patients with refractory anti‐acetylcholine receptor antibody‐positive (AChR+) gMG previously treated with rituximab.MethodsThis post hoc subgroup analysis of the phase 3 REGAIN study (NCT01997229) and its open‐label extension (OLE; NCT02301624) compared baseline characteristics, safety, and response to eculizumab in participants who had previously received rituximab with those who had not. Rituximab use was not permitted within the 6 months before screening or during REGAIN/OLE.ResultsOf 125 REGAIN participants, 14 had received rituximab previously (7 received placebo and 7 received eculizumab). In the previous‐rituximab group, 57% had used at least four other immunosuppressants compared with 16% in the no‐previous‐rituximab group. Myasthenia Gravis Activities of Daily Living total scores from eculizumab baseline to week 130 of eculizumab treatment improved in both the previous‐rituximab and no‐previous‐rituximab groups (least‐squares mean −4.4, standard error of the mean [SEM] 1.0 [n = 9] and least‐squares mean −4.6, SEM 0.3 [n = 67], respectively; difference = 0.2, 95% confidence interval −1.88 to 2.22). In addition, in both groups, most patients who were treated with eculizumab for 130 weeks achieved a Myasthenia Gravis Foundation of America post‐intervention status of minimal manifestations (66.7% and 65.0%, respectively). The eculizumab safety profile was similar between groups and consistent with its established profile.DiscussionEculizumab is an effective therapy for patients with refractory AChR+ gMG, irrespective of whether they had received rituximab treatment previously.
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples
Emanuela Abiusi, Paola Infante, Cinzia Cagnoli, Ludovica Lospinoso Severini, Marika Pane, et al.
Elife, 2021
Background:Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by the degeneration of the second motor neuron. The phenotype ranges from very severe to very mild forms. All patients have the homozygous loss of the SMN1 gene and a variable number of SMN2 (generally 2–4 copies), inversely related to the severity. The amazing results of the available treatments have made compelling the need of prognostic biomarkers to predict the progression trajectories of patients. Besides the SMN2 products, few other biomarkers have been evaluated so far, including some miRs.Methods:We performed whole miRNome analysis of muscle samples of patients and controls (14 biopsies and 9 cultures). The levels of muscle differentially expressed miRs were evaluated in serum samples (51 patients and 37 controls) and integrated with SMN2 copies, SMN2 full-length transcript levels in blood and age (SMA-score).Results:Over 100 miRs were differentially expressed in SMA muscle; 3 of them (hsa-miR-181a-5p, -324-5p, -451a; SMA-miRs) were significantly upregulated in the serum of patients. The severity predicted by the SMA-score was related to that of the clinical classification at a correlation coefficient of 0.87 (p<10-5).Conclusions:miRNome analyses suggest the primary involvement of skeletal muscle in SMA pathogenesis. The SMA-miRs are likely actively released in the blood flow; their function and target cells require to be elucidated. The accuracy of the SMA-score needs to be verified in replicative studies: if confirmed, its use could be crucial for the routine prognostic assessment, also in presymptomatic patients.Funding:Telethon Italia (grant #GGP12116).
Quantitative Muscle MRI Protocol as Possible Biomarker in Becker Muscular Dystrophy
Lorenzo Maggi, Marco Moscatelli, Rita Frangiamore, Federica Mazzi, Mattia Verri, et al.
Clinical Neuroradiology, 2021
Post-intervention Status in Patients With Refractory Myasthenia Gravis Treated With Eculizumab During REGAIN and Its Open-Label Extension
Renato Mantegazza, Gil I. Wolfe, Srikanth Muppidi, Heinz Wiendl, Kenji P. Fujita, et al.
Neurology, 2021
Consistent improvement with eculizumab across muscle groups in myasthenia gravis
Renato Mantegazza, Fanny L. O'Brien, Marcus Yountz, James F. Howard, and
Annals of Clinical and Translational Neurology, 2020
‘Minimal symptom expression’ in patients with acetylcholine receptor antibody-positive refractory generalized myasthenia gravis treated with eculizumab
John Vissing, Saiju Jacob, Kenji P. Fujita, Fanny O’Brien, James F. Howard
Journal of Neurology, 2020
Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: Results of a cross over study
Annalisa Sechi, Lucrezia Zuccarelli, Bruno Grassi, Rita Frangiamore, Ramona De Amicis, et al.
Orphanet Journal of Rare Diseases, 2020
Kappa free light chains index in the differential diagnosis of Multiple Sclerosis from Neuromyelitis optica spectrum disorders and other immune-mediated central nervous system disorders
P. Cavalla, P. Caropreso, S. Limoncelli, C. Bosa, M.B. Pasanisi, et al.
Journal of Neuroimmunology, 2020
Correction to: Eculizumab improves fatigue in refractory generalized myasthenia gravis (Quality of Life Research, (2019), 28, 8, (2247-2254), 10.1007/s11136-019-02148-2)
Henning Andersen, Renato Mantegazza, Jing Jing Wang, Fanny O’Brien, Kaushik Patra, et al.
Quality of Life Research, 2019
Eculizumab improves fatigue in refractory generalized myasthenia gravis
Henning Andersen, Renato Mantegazza, Jing Jing Wang, Fanny O’Brien, Kaushik Patra, et al.
Quality of Life Research, 2019
Long-term safety and efficacy of eculizumab in generalized myasthenia gravis
Srikanth Muppidi, Kimiaki Utsugisawa, Michael Benatar, Hiroyuki Murai, Richard J. Barohn, et al.
Muscle and Nerve, 2019
Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy
Cristina Cappelletti, Barbara Galbardi, Mirella Bruttini, Franco Salerno, Eleonora Canioni, et al.
FASEB Journal, 2019
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: Results of a phase IIb double-blind study of salbutamol
Francesco Danilo Tiziano, Rosa Lomastro, Emanuela Abiusi, Maria Barbara Pasanisi, Lorena Di Pietro, et al.
Journal of Medical Genetics, 2019
Amifampridine phosphate in the treatment of muscle-specific kinase myasthenia gravis: a phase IIb, randomized, double-blind, placebo-controlled, double crossover study
Silvia Bonanno, Maria Barbara Pasanisi, Rita Frangiamore, Lorenzo Maggi, Carlo Antozzi, et al.
Sage Open Medicine, 2018
Interpreting genetic variants in titin in patients with muscle disorders
Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, et al.
JAMA Neurology, 2018
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements
Adele D'Amico, Michela Catteruccia, Giovanni Baranello, Luisa Politano, Alessandra Govoni, et al.
Neuromuscular Disorders, 2017
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
Daniel P.S. Osborn, Heather L. Pond, Neda Mazaheri, Jeremy Dejardin, Christopher J. Munn, et al.
American Journal of Human Genetics, 2017
Perceived efficacy of salbutamol by persons with spinal muscular atrophy: A mixed methods study
Ambra M. Giovannetti, Maria Barbara Pasanisi, Milda Černiauskaitė, Chiara Bussolino, Matilde Leonardi, et al.
Muscle and Nerve, 2016
DNAJB6 myopathies: Focused review on an emerging and expanding group of myopathies
Alessandra Ruggieri, Simona Saredi, Simona Zanotti, Maria Barbara Pasanisi, Lorenzo Maggi, et al.
Frontiers in Molecular Biosciences, 2016
Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene
Maria Barbara Pasanisi, Sara Missaglia, Denise Cassandrini, Franco Salerno, Stefania Farina, et al.
International Journal of Cardiology, 2016
Muscle MRI findings in facioscapulohumeral muscular dystrophy
Simonetta Gerevini, Marina Scarlato, Lorenzo Maggi, Mariangela Cava, Giandomenico Caliendo, et al.
European Radiology, 2016
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
Alessandra Ruggieri, Francesco Brancati, Simona Zanotti, Lorenzo Maggi, Maria Barbara Pasanisi, et al.
Acta Neuropathologica Communications, 2015
Opposing roles of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy
Simona Zanotti, Sara Gibertini, Maurizio Curcio, Paolo Savadori, Barbara Pasanisi, et al.
Biochimica Et Biophysica Acta Molecular Basis of Disease, 2015
A chaperone enhances blood α-glucosidase activity in pompe disease patients treated with enzyme replacement therapy
Giancarlo Parenti, Simona Fecarotta, Giancarlo la Marca, Barbara Rossi, Serena Ascione, et al.
Molecular Therapy, 2014
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
Johann Böhm, Frédéric Chevessier, Catherine Koch, G Arielle Peche, Marina Mora, et al.
Journal of Medical Genetics, 2014
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study
Francesco D Tiziano, Rosa Lomastro, Lorena Di Pietro, Maria Barbara Pasanisi, Stefania Fiori, et al.
European Journal of Human Genetics, 2013
Familial adult-onset Pompe disease associated with unusual clinical and histological features
Acta Myologica, 2013
New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy
Corrado Angelini, Claudio Semplicini, Sabrina Ravaglia, Maurizio Moggio, Giacomo P. Comi, et al.
Muscle and Nerve, 2012
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
The Italian GSDII Group, C. Angelini, C. Semplicini, S. Ravaglia, B. Bembi, et al.
Journal of Neurology, 2012
Sleep breathing disorders in 40 Italian patients with Myotonic dystrophy type 1
Alessandro Pincherle, Vincenzo Patruno, Paola Raimondi, Sabrina Moretti, Ambra Dominese, et al.
Neuromuscular Disorders, 2012

Maria Barbara Pasanisi

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Scopus Publications