Natural history of skeletal muscle laminopathies: a 2-year prospective study

Authors: Santovito, Luca Spiro ^{a, b}, Bonanno, Silvia ^b, Pasanisi, Maria Barbara ^{b, g}, Gallone, Annamaria ^b, Ricci, Federica ^c, Tramacere, Irene ^d, Zanin, Riccardo ^e, Previtali, Stefano Carlo ^f, Maggi, Lorenzo ^{b, ⁎}

Source: In Neuromuscular Disorders February 2025 47

Serum miR-34a-5p, miR-103a-3p, and miR-376a-3p as possible biomarkers of conversion from relapsing-remitting to secondary progressive multiple sclerosis

Authors: Agostini, Simone, Mancuso, Roberta, Citterio, Lorenzo Agostino, Caputo, Domenico, Oreni, Letizia, Nuzzi, Riccardo, Pasanisi, Maria Barbara, Rovaris, Marco, Clerici, Mario

Source: In Neurobiology of Disease 1 October 2024 200

Aging‐associated genes and let‐7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy

Authors: Cappelletti, Cristina, Galbardi, Barbara, Bruttini, Mirella, Salerno, Franco, Canioni, Eleonora, Pasanisi, Maria Barbara, Rodolico, Carmelo, Brizzi, Teresa, Mora, Marina, Renieri, Alessandra, Maggi, Lorenzo, Bernasconi, Pia, Mantegazza, Renato

Source: FASEB journal. 33(6):7155-7167

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100103323076.0x000001&indx=1&recIds=ETOCvdc_100103323076.0x000001

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Authors: Osborn, Daniel P.S., Pond, Heather L., Mazaheri, Neda, Dejardin, Jeremy, Munn, Christopher J., Mushref, Khaloob, Cauley, Edmund S., Moroni, Isabella, Pasanisi, Maria Barbara, Sellars, Elizabeth A., Hill, R. Sean, Partlow, Jennifer N., Willaert, Rebecca K., Bharj, Jaipreet, Malamiri, Reza Azizi, Galehdari, Hamid, Shariati, Gholamreza, Maroofian, Reza, Mora, Marina, Swan, Laura E., Voit, Thomas, Conti, Francesco J., Jamshidi, Yalda, Manzini, M. Chiara

Source: American journal of human genetics. 100(3):537-545

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100041697132.0x000001&indx=1&recIds=ETOCvdc_100041697132.0x000001

A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

Authors: Parenti, Giancarlo, Fecarotta, Simona, la Marca, Giancarlo, Rossi, Barbara, Ascione, Serena, Donati, Maria Alice, Morandi, Lucia Ovidia, Ravaglia, Sabrina, Pichiecchio, Anna, Ombrone, Daniela, Sacchini, Michele, Pasanisi, Maria Barbara, De Filippi, Paola, Danesino, Cesare, Della Casa, Roberto, Romano, Alfonso, Mollica, Carmine, Rosa, Margherita, Agovino, Teresa, Nusco, Edoardo, Porto, Caterina, Andria, Generoso

Source: In Molecular Therapy November 2014 22(11):2004-2012

Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study

Authors: Sechi, Annalisa, Zuccarelli, Lucrezia, Grassi, Bruno, Frangiamore, Rita, De Amicis, Ramona, Marzorati, Mauro, Porcelli, Simone, Tullio, Annarita, Bacco, Anna, Bertoli, Simona, Dardis, Andrea, Biasutti, Lea, Pasanisi, Maria Barbara, Devigili, Grazia, Bembi, Bruno

Source: Orphanet journal of rare diseases. 15(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171869381.0x000001&indx=1&recIds=ETOCvdc_100171869381.0x000001

Sleep breathing disorders in 40 Italian patients with Myotonic dystrophy type 1

Authors: Pincherle, Alessandro, Patruno, Vincenzo, Raimondi, Paola, Moretti, Sabrina, Dominese, Ambra, Martinelli-Boneschi, Filippo, Pasanisi, Maria Barbara, Canioni, Eleonora, Salerno, Franco, Deleo, Francesco, Spreafico, Roberto, Mantegazza, Renato, Villani, Flavio, Morandi, Lucia

Source: In Neuromuscular Disorders March 2012 22(3):219-224

Myelin Basic Protein in Oligodendrocyte-Derived Extracellular Vesicles as a Diagnostic and Prognostic Biomarker in Multiple Sclerosis: A Pilot Study.

Authors: Agliardi, Cristina, Guerini, Franca Rosa, Zanzottera, Milena, Bolognesi, Elisabetta, Picciolini, Silvia, Caputo, Domenico, Rovaris, Marco, Pasanisi, Maria Barbara, Clerici, Mario

Source: International Journal of Molecular Sciences; Jan2023, Vol. 24 Issue 1, p894, 10p

Subject Terms: MYELIN proteins, MYELIN basic protein, EXTRACELLULAR vesicles, MULTIPLE sclerosis, MYELIN oligodendrocyte glycoprotein, BLOOD proteins, LOGISTIC regression analysis

Two Single Nucleotide Polymorphisms in the Purinergic Receptor P2X7 Gene Are Associated with Disease Severity in Multiple Sclerosis.

Authors: Guerini, Franca Rosa, Agliardi, Cristina, Bolognesi, Elisabetta, Zanzottera, Milena, Caputo, Domenico, Pasanisi, Maria Barbara, Rovaris, Marco, Clerici, Mario

Source: International Journal of Molecular Sciences; Dec2022, Vol. 23 Issue 23, p15381, 10p

Subject Terms: PURINERGIC receptors, SINGLE nucleotide polymorphisms, MULTIPLE sclerosis, GENE expression, CENTRAL nervous system diseases, HAPLOTYPES

Dietary habits, nutritional status and risk of a first demyelinating event: an incident case-control study in a southern European cohort.

Authors: Cavalla, Paola, Golzio, Paola, Maietta, Daniela, Bosa, Chiara, Pasanisi, Maria Barbara, Alteno, Anastasia, Schillaci, Valentina, Costantini, Gianfranco, Durelli, Paola, Cuffini, Erica, Panizzolo, Stefania, De Francesco, Antonella, Chiò, Adriano, Vercellino, Marco

Source: Neurological Sciences; Jul2022, Vol. 43 Issue 7, p4373-4380, 8p, 5 Charts, 1 Map

Subject Terms: FOOD habits, NUTRITIONAL status, ALPHA-linolenic acid, NUTRITIONAL assessment, CASE-control method, ORAL habits, DIET, VITAMIN D

Geographic Terms: SCANDINAVIA

Acute and chronic synaptic pathology in multiple sclerosis gray matter.

Authors: Vercellino, Marco, Marasciulo, Stella, Grifoni, Silvia, Vallino-Costassa, Elena, Bosa, Chiara, Pasanisi, Maria Barbara, Crociara, Paola, Casalone, Cristina, Chiò, Adriano, Giordana, Maria Teresa, Corona, Cristiano, Cavalla, Paola

Source: Multiple Sclerosis Journal; Mar2022, Vol. 28 Issue 3, p369-382, 14p

Subject Terms: GRAY matter (Nerve tissue), MULTIPLE sclerosis, PATHOLOGY, CONFOCAL microscopy, DEMYELINATION, ENCEPHALITIS

Quantitative Muscle MRI Protocol as Possible Biomarker in Becker Muscular Dystrophy.

Authors: Maggi, Lorenzo, Moscatelli, Marco, Frangiamore, Rita, Mazzi, Federica, Verri, Mattia, De Luca, Alberto, Pasanisi, Maria Barbara, Baranello, Giovanni, Tramacere, Irene, Chiapparini, Luisa, Bruzzone, Maria Grazia, Mantegazza, Renato, Aquino, Domenico

Source: Clinical Neuroradiology; Mar2021, Vol. 31 Issue 1, p257-266, 10p

Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

Authors: Pasanisi, Maria Barbara, Missaglia, Sara, Cassandrini, Denise, Salerno, Franco, Farina, Stefania, Andreini, Daniele, Agostoni, Piergiuseppe, Morandi, Lucia, Mora, Marina, Tavian, Daniela

Source: In International Journal of Cardiology 15 March 2016 207:165-167

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Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol.

Authors: Tiziano, Francesco Danilo, Lomastro, Rosa, Abiusi, Emanuela, Pasanisi, Maria Barbara, Di Pietro, Lorena, Fiori, Stefania, Baranello, Giovanni, Angelini, Corrado, Sorarù, Gianni, Gaiani, Alessandra, Mongini, Tiziana, Vercelli, Liliana, Mercuri, Eugenio, Vasco, Gessica, Pane, Marika, Vita, Giuseppe, Vita, Gianluca, Messina, Sonia, Petillo, Roberta, Passamano, Luigia

Source: Journal of Medical Genetics; May2019, Vol. 56 Issue 5, p292-300, 8p

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Amifampridine phosphate in the treatment of muscle-specific kinase myasthenia gravis: a phase IIb, randomized, double-blind, placebo-controlled, double crossover study.

Authors: Bonanno, Silvia, Pasanisi, Maria Barbara, Frangiamore, Rita, Maggi, Lorenzo, Antozzi, Carlo, Andreetta, Francesca, Campanella, Angela, Brenna, Greta, Cottini, Lorenzo, Mantegazza, Renato

Source: SAGE Open Medicine; Jan-Dec2018, Vol. 6, p1-9, 9p

Biobank of Cells, Tissues and DNA from Patients with Neuromuscular Diseases: An Indispensable link between Clinical Centers and the Scientific Community.

Authors: Mora, Marina, Bragato, Cinzia, Gibertini, Sara, Zanotti, Simona, Curcio, Maurizio, Canioni, Eleonora, Salerno, Franco, Blasevich, Flavia, Saredi, Simona, Ruggieri, Alessandra, Pasanisi, Maria Barbara, Bernasconi, Pia, Maggi, Lorenzo, Mantegazza, Renato, Andreetta, Francesca

Source: Open Journal of Bioresources; 2019, Vol. 4, p1-5, 5p

Subject Terms: BIOBANKS, NEUROMUSCULAR disease diagnosis, SCIENTIFIC community, NEUROIMMUNOLOGY, MUSCULAR dystrophy, CLINICAL trials