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

Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016

Authors: Gardani, Alice, Costantino, Maria Antonella, Bitetti, Ilaria, Franguel, Matteo Tuana, Sframeli, Maria, Magnolato, Andrea, Rausa, Myriam, Pagliaccia, Elena, Negri, Mirea, Del Monaco, Cesare, Berti, Beatrice, Leone, Daniela, Palermo, Concetta, Bertini, Enrico, Longo, Antonella, Dosi, Claudia, Carnicella, Sara, Morando, Simone, Brolatti, Noemi, Vento, Alessandra, Cavallina, Ilaria, Ferrante, Roberta, Bernasconi, Laura, Piastra, Marco, Genovese, Orazio, Forcina, Nicola, Benedetti, Francesca, Damioli, Simona, Fanelli, Lavinia, Stanca, Giulia, Norcia, Giulia, Sacchini, Michele, Ticci, Chiara, Briganti, Elena, Pera, Maria Carmela ^{a, b, y}, Coratti, Giorgia ^{a, b, y}, Pane, Marika ^{a, b}, Masson, Riccardo ^c, Sansone, Valeria Ada ^d, D’Amico, Adele ^e, Catteruccia, Michela ^e, Agosto, Caterina ^f, Varone, Antonio ^g, Bruno, Claudio ^h, Messina, Sonia ⁱ, Ricci, Federica ^j, Bruno, Irene ^k, Procopio, Elena ^l, Pini, Antonella ^m, Siliquini, Sabrina ⁿ, Zanin, Riccardo ^c, Albamonte, Emilio ^d, Berardinelli, Angela ^o, Mastella, Chiara ^p, Baranello, Giovanni ^{q, r}, Previtali, Stefano Carlo ^s, Trabacca, Antonio ^t, Bravetti, Chiara ^{a, b}, Gagliardi, Delio ^u, Filosto, Massimiliano ^{v, x}, de Sanctis, Roberto ^{a, b}, Finkel, Richard ^w, Mercuri, Eugenio ^{a, b, ∗}

Source: In eClinicalMedicine December 2024 78

Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study

Authors: Vicino, Alex, Bello, Luca, Bonanno, Silvia, Govoni, Alessandra, Cerri, Federica, Ferraro, Manfredi, Capece, Giuliana, Gadaleta, Giulio, Meneri, Megi, Vacchiano, Veria, Ricci, Giulia, D'Errico, Eustachio, Tramacere, Irene, Banfi, Paolo, Bortolani, Sara, Zanin, Riccardo, Maioli, Maria Antonietta, Silvestrini, Mauro, Previtali, Stefano Carlo, Berardinelli, Angela, Turri, Mara, Coccia, Michela, Mantegazza, Renato, Liguori, Rocco, Filosto, Massimiliano, Siciliano, Gabriele, Simone, Isabella Laura, Mongini, Tiziana, Comi, Giacomo, Pegoraro, Elena, Maggi, Lorenzo

Source: In Neuromuscular Disorders December 2023 33(12):911-916

Niacin ameliorates Charcot-Marie-Tooth 4B1 neuropathy without interfering with nerve regeneration.

Authors: Cipriani, Silvia, Porrello, Emanuela, Cerea, Matteo, Gazzaniga, Andrea, Guardo, Roberta Di, Heslegrave, Amanda, Valenzano, Serena, Carro, Ubaldo Del, Duong, Phu, Svaren, John, Previtali, Stefano Carlo, Bolino, Alessandra

Source: Brain Communications; 2025, Vol. 7 Issue 1, p1-17, 17p

Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy

Authors: Bertini, Alessandro, Gentile, Luca, Cavallaro, Tiziana, Tozza, Stefano, Saveri, Paola, Russo, Massimo, Massucco, Sara, Falzone, Yuri Matteo, Bellone, Emilia, Taioli, Federica, Geroldi, Alessandro, Occhipinti, Giuseppe, Ferrarini, Moreno, Cavalca, Eleonora, Crivellari, Luca, Mandich, Paola, Balistreri, Francesca, Magri, Stefania, Taroni, Franco, Previtali, Stefano Carlo, Schenone, Angelo, Grandis, Marina, Manganelli, Fiore, Fabrizi, Gian Maria, Mazzeo, Anna, Pareyson, Davide, Pisciotta, Chiara

Source: Journal of Neurology, Neurosurgery, & Psychiatry (JNNP); 2025, Vol. 96 Issue: 1 p47-53, 7p

Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies

Authors: Panicucci, Chiara, Baratto, Serena, Raffaghello, Lizzia, Tonin, Paola, D Amico, Adele, Tasca, Giorgio, Traverso, Monica, Fiorillo, Chiara, Minetti, Carlo, Previtali, Stefano Carlo

Source: Clinical neuropathology. 40(6):310-318

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN627829113&indx=1&recIds=ETOCRN627829113

Overcoming therapeutic challenges: Successful management of a supposedly triple seronegative, refractory generalized myasthenia gravis patient with efgartigimod.

Authors: Sorrenti, Benedetta, Laurini, Christian, Bosco, Luca, Strano, Camilla Mirella Maria, Scarlato, Marina, Gastaldi, Matteo, Filippi, Massimo, Previtali, Stefano Carlo, Falzone, Yuri Matteo

Source: European Journal of Neurology; Jul2024, Vol. 31 Issue 7, p1-5, 5p

Subject Terms: MYASTHENIA gravis, FC receptors, CHOLINERGIC receptors, REFRACTORY materials, THERAPEUTICS, TREATMENT effectiveness

Geographic Terms: AMERICA

Company/Entity: EUROPEAN Medicines Agency, UNITED States. Food & Drug Administration

Disruption of Mtmr2 Produces CMT4B1-Like Neuropathy with Myelin Outfolding and Impaired Spermatogenesis

Authors: Bolino, Alessandra, Bolis, Annalisa, Previtali, Stefano Carlo, Dina, Giorgia, Bussini, Simona, Dati, Gabriele, Amadio, Stefano, Del Carro, Ubaldo, Mruk, Dolores D., Feltri, Maria Laura, Cheng, C. Yan, Quattrini, Angelo, Wrabetz, Lawrence

Source: The Journal of Cell Biology, 2004 Nov . 167(4), 711-721.

Access URL: https://www.jstor.org/stable/1622435

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

Authors: D'Amico, Adele ^*, Catteruccia, Michela, Baranello, Giovanni, Politano, Luisa, Govoni, Alessandra, Previtali, Stefano Carlo, Pane, Marika, D'Angelo, Maria Grazia, Bruno, Claudio, Messina, Sonia, Ricci, Federica, Pegoraro, Elena, Pini, Antonella, Berardinelli, Angela, Gorni, Ksenjia, Battini, Roberta, Vita, Gianluca, Trucco, Federica, Scutifero, Marianna, Petillo, Roberta, D'Ambrosio, Paola, Ardissone, Anna, Pasanisi, Barbara, Vita, Giuseppe, Mongini, Tiziana, Moggio, Maurizio, Comi, Giacomo Pietro, Mercuri, Eugenio, Bertini, Enrico

Source: In Neuromuscular Disorders May 2017 27(5):447-451

Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease.

Authors: Bertini, Alessandro, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Santoro, Lucio, Cavallaro, Tiziana, Tagliapietra, Matteo, Grandis, Marina, Previtali, Stefano Carlo, Falzone, Yuri Matteo, Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Tramacere, Irene, Cavalca, Eleonora, Saveri, Paola, Quattrone, Andrea, Valentino, Paola, Tozza, Stefano, Gentile, Luca

Source: Journal of Neurology, Neurosurgery & Psychiatry; May2024, Vol. 95 Issue 5, p434-441, 8p

Subject Terms: FOOT orthoses, ORTHOPEDIC apparatus, CHARCOT-Marie-Tooth disease, PATIENTS' attitudes, PRESSURE ulcers, FOOT pain, ORTHOPEDIC shoes, COVID-19 pandemic

Neuromyelitis optica and myotonic dystrophy type 2: a rare association with diagnostic implications

Authors: Gelibter, Stefano, Moiola, Lucia, Previtali, Stefano Carlo, Filippi, Massimo

Source: Journal of neurology. 267(9):2744-2746

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168041952.0x000001&indx=1&recIds=ETOCvdc_100168041952.0x000001

Vocal cord paralysis in Charcot–Marie–Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature

Authors: Zambon, Alberto Andrea, Natali Sora, Maria Grazia, Cantarella, Giovanna, Cerri, Federica, Quattrini, Angelo, Comi, Giancarlo, Previtali, Stefano Carlo, Bolino, Alessandra

Source: NEUROMUSCULAR DISORDERS. 27(5):487-491

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100043595584.0x000001&indx=1&recIds=ETOCvdc_100043595584.0x000001

Niacin‐mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination

Authors: Bolino, Alessandra, Piguet, Françoise, Alberizzi, Valeria, Pellegatta, Marta, Rivellini, Cristina, Guerrero‐Valero, Marta, Noseda, Roberta, Brombin, Chiara, Nonis, Alessandro, D'Adamo, Patrizia, Taveggia, Carla, Previtali, Stefano Carlo

Source: EMBO molecular medicine. 8(12):1438-1454

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100186098793.0x000001&indx=1&recIds=ETOCvdc_100186098793.0x000001

How Schwann Cells Sort Axons: New Concepts

Authors: Feltri, M. Laura, Poitelon, Yannick, Previtali, Stefano Carlo

Source: Neuroscientist. 22(3):252-265

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN606431749&indx=1&recIds=ETOCRN606431749

Correction: Molecular mechanisms and therapeutic strategies for neuromuscular diseases.

Authors: Zambon, Alberto Andrea, Falzone, Yuri Matteo, Bolino, Alessandra, Previtali, Stefano Carlo

Source: Cellular & Molecular Life Sciences; 7/26/2024, Vol. 81 Issue 1, p1-1, 1p

Subject Terms: PERSONAL names, LIFE sciences

Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease

Authors: Maggi, Lorenzo, Bello, Luca, Bonanno, Silvia, Govoni, Alessandra, Caponnetto, Claudia, Passamano, Luigia, Grandis, Marina, Trojsi, Francesca, Cerri, Federica, Gardani, Alice, Ferraro, Manfredi, Gadaleta, Giulio, Zangaro, Vittoria, Caumo, Luca, Maioli, Mariantonietta, Tanel, Raffaella, Saccani, Elena, Meneri, Megi, Vacchiano, Veria, Ricci, Giulia, Sorarù, Gianni, D'Errico, Eustachio, Bortolani, Sara, Pavesi, Giovanni, Gellera, Cinzia, Zanin, Riccardo, Corti, Stefania, Silvestrini, Mauro, Politano, Luisa, Schenone, Angelo, Previtali, Stefano Carlo, Berardinelli, Angela, Turri, Mara, Verriello, Lorenzo, Coccia, Michela, Mantegazza, Renato, Liguori, Rocco, Filosto, Massimiliano, Marrosu, Gianni, Tiziano, Francesco Danilo, Siciliano, Gabriele, Simone, Isabella Laura, Mongini, Tiziana, Comi, Giacomo, Pegoraro, Elena

Source: Journal of Neurology, Neurosurgery, & Psychiatry (JNNP); 2022, Vol. 93 Issue: 12 p1253-1261, 9p

LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models.

Authors: Previtali, Stefano Carlo, Zambon, Alberto Andrea

Source: Frontiers in Molecular Neuroscience; 4/23/2020, Vol. 13, p1-10, 10p

Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.

Authors: Longo, Fabiana, Benedetti, Sara, Zambon, Alberto A, Sora, Maria Grazia Natali, Resta, Chiara Di, Ritis, Daniele De, Quattrini, Angelo, Maltecca, Francesca, Ferrari, Maurizio, Previtali, Stefano Carlo

Source: Human Molecular Genetics; 1/15/2020, Vol. 29 Issue 2, p177-188, 12p

This result is not displayed to guests.
Login for full access.

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

Authors: Maggi, Lorenzo, Bello, Luca, Bonanno, Silvia, Govoni, Alessandra, Caponnetto, Claudia, Passamano, Luigia, Grandis, Marina, Trojsi, Francesca, Cerri, Federica, Ferraro, Manfredi, Bozzoni, Virginia, Caumo, Luca, Piras, Rachele, Tanel, Raffaella, Saccani, Elena, Meneri, Megi, Vacchiano, Veria, Ricci, Giulia, Soraru', Gianni, D'Errico, Eustachio, Tramacere, Irene, Bortolani, Sara, Pavesi, Giovanni, Zanin, Riccardo, Silvestrini, Mauro, Politano, Luisa, Schenone, Angelo, Previtali, Stefano Carlo, Berardinelli, Angela, Turri, Mara, Verriello, Lorenzo, Coccia, Michela, Mantegazza, Renato, Liguori, Rocco, Filosto, Massimiliano, Marrosu, Gianni, Siciliano, Gabriele, Simone, Isabella Laura, Mongini, Tiziana, Comi, Giacomo, Pegoraro, Elena

Source: Journal of Neurology, Neurosurgery, & Psychiatry (JNNP); 2020, Vol. 91 Issue: 11 p1166-1174, 9p