Search Results - "Pini, Antonella"

Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes by Brugnoni, Raffaella, Canioni, Eleonora, Filosto, Massimiliano, Pini, Antonella, Tonin, Paola, Rossi, Tommaso, Canavese, Carlotta, Eoli, Marica, Siciliano, Gabriele, Lauria, Giuseppe, Mantegazza, Renato, Maggi, Lorenzo

“…Familial periodic paralyses (PPs) are inherited disorders of skeletal muscle characterized by recurrent episodes of flaccid muscle weakness. PPs are classified…”
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Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging by Biagi, Laura, Lenzi, Sara, Cipriano, Emilio, Fiori, Simona, Bosco, Paolo, Cristofani, Paola, Astrea, Guia, Pini, Antonella, Cioni, Giovanni, Mercuri, Eugenio, Tosetti, Michela, Battini, Roberta

“…Cognitive difficulties and neuropsychological alterations in Duchenne and Becker muscular dystrophy (DMD, BMD) boys are not yet sufficiently explored, although…”
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Diagnosis of duchenne muscular dystrophy in italy in the last decade: critical issues and areas for improvements by 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

“…Highlights • The mean age at diagnosis of Duchenne Muscular Dystrophy is around 4.2 -5 years all over the world. • A delayed diagnosis of DMD has several…”
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Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review by Della Vecchia, Stefania, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Cioffi, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, Santorelli, Filippo Maria

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Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study by Fusto, Aurora, Cassandrini, Denise, Fiorillo, Chiara, Codemo, Valentina, Astrea, Guja, D'Amico, Adele, Maggi, Lorenzo, Magri, Francesca, Pane, Marika, Tasca, Giorgio, Sabbatini, Daniele, Bello, Luca, Battini, Roberta, Bernasconi, Pia, Fattori, Fabiana, Bertini, Enrico Silvio, Comi, Giacomo, Messina, Sonia, Mongini, Tiziana, Moroni, Isabella, Panicucci, Chiara, Berardinelli, Angela, Donati, Alice, Nigro, Vincenzo, Pini, Antonella, Giannotta, Melania, Dosi, Claudia, Ricci, Enzo, Mercuri, Eugenio, Minervini, Giovanni, Tosatto, Silvio, Santorelli, Filippo, Bruno, Claudio, Pegoraro, Elena

“…Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). We…”
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Expansion of the genetic landscape of ERLIN2‐related disorders by Srivastava, Siddharth, D’Amore, Angelica, Cohen, Julie S., Swanson, Lindsay C., Ricca, Ivana, Pini, Antonella, Fatemi, Ali, Ebrahimi‐Fakhari, Darius, Santorelli, Filippo M.

“…ERLIN2‐related disorders are rare conditions of the motor system and clinical details are limited to a small number of prior descriptions. We here presented…”
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Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients by Maggi, Lorenzo, Brugnoni, Raffaella, Canioni, Eleonora, Tonin, Paola, Saletti, Veronica, Sola, Patrizia, Piccinelli, Stefano Cotti, Colleoni, Lara, Ferrigno, Paola, Pini, Antonella, Masson, Riccardo, Manganelli, Fiore, Lietti, Daniele, Vercelli, Liliana, Ricci, Giulia, Bruno, Claudio, Tasca, Giorgio, Pizzuti, Antonio, Padovani, Alessandro, Fusco, Carlo, Pegoraro, Elena, Ruggiero, Lucia, Ravaglia, Sabrina, Siciliano, Gabriele, Morandi, Lucia, Dubbioso, Raffaele, Mongini, Tiziana, Filosto, Massimiliano, Tramacere, Irene, Mantegazza, Renato, Bernasconi, Pia

“…Background: Four main clinical phenotypes have been traditionally described in patients mutated in SCN4A, including sodium-channel myotonia (SCM), paramyotonia…”
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Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study by Brogna, Claudia, Pane, Marika, Coratti, Giorgia, D'Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria Ada Maria, Albamonte, Emilio, Messina, Sonia, Pini, Antonella, D'Angelo, Maria Grazia, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica Silvia, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Bertini, Enrico Silvio, Politano, Luisa, Mercuri, Eugenio, Italian Dmd Group

“…The Performance of Upper Limb version 2.0 (PUL 2.0) is increasingly used in Duchenne Muscular Dystrophy (DMD) to study longitudinal functional changes of motor…”
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Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy by ANDREASSI, Catia, ANGELOZZI, Carla, BRAHE, Christina, TIZIANO, Francesco D, VITALI, Tiziana, DE VINCENZI, Eleonora, BONINSEGNA, Alma, VILLANOVA, Marcello, BERTINI, Enrico, PINI, Antonella, NERI, Giovanni

“…Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease, characterized by degeneration of the anterior horn cells of the spinal cord. SMA…”
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Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype by Brioschi, Simona, Gualandi, Francesca, Scotton, Chiara, Armaroli, Annarita, Bovolenta, Matteo, Falzarano, Maria S, Sabatelli, Patrizia, Selvatici, Rita, D'Amico, Adele, Pane, Marika, Ricci, Giulia, Siciliano, Gabriele, Tedeschi, Silvana, Pini, Antonella, Vercelli, Liliana, De Grandis, Domenico, Mercuri, Eugenio, Bertini, Enrico, Merlini, Luciano, Mongini, Tiziana, Ferlini, Alessandra

“…Although Duchenne and Becker muscular dystrophies, X-linked recessive myopathies, predominantly affect males, a clinically significant proportion of females…”
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Telemedicine applied to neuromuscular disorders: focus on the COVID-19 pandemic era by Giannotta, Melania, Petrelli, Cristina, Pini, Antonella

“…Neuromuscular diseases are rare and usually chronic progressive disorders that require a multidisciplinary clinical evaluation and functional monitoring. The…”
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Motor unit number estimation via MScanFit MUNE in spinal muscular atrophy by Vacchiano, Veria, Morabito, Francesca, Faini, Claudia, Nocera, Giovanna, Not, Riccardo, Scarpini, Gaia, Romagnoli, Martina, Pini, Antonella, Liguori, Rocco

“…Introduction/Aims MScanFit MUNE (MScanFit) is a novel tool to derive motor unit number estimates (MUNEs) from compound muscle action potential (CMAP) scans…”
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Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1 by Trucco, Federica, Albamonte, Emilio, Pane, Marika, Ricci, Federica, D'amico, Adele, Astrea, Guja, Moroni, Isabella, Pini, Antonella, Fiorillo, Chiara, Berardinelli, Angela, Johnson, Nicholas E, Sansone, Valeria A

“…To investigate the timing of type 1 myotonic dystrophy (DM1) diagnosis in parents of affected children and describe children's perinatal characteristics and…”
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Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey by Coratti, Giorgia, Ricci, Martina, Capasso, Anna, D'amico, Adele, Sansone, Valeria, Bruno, Claudio, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Coccia, Michela, Siciliano, Gabriele, Pegoraro, Elena, Turri, Mara, Filosto, Massimiliano, Comi, Giacomo, Masson, Riccardo, Maggi, Lorenzo, Bruno, Irene, D'Angelo, Maria Grazia, Trabacca, Antonio, Vacchiano, Veria, Donati, Maria, Simone, Isabella, Ruggiero, Lucia, Varone, Antonio, Verriello, Lorenzo, Berardinelli, Angela, Agosto, Caterina, Pini, Antonella, Maioli, Maria Antonietta, Passamano, Luigia, Brighina, Filippo, Carboni, Nicola, Garibaldi, Matteo, Zuccarino, Riccardo, Gagliardi, Delio, Siliquini, Sabrina, Previtali, Stefano, Taruscio, Domenica, Boccia, Stefania, Pera, Maria Carmela, Pane, Marika, Mercuri, Eugenio

“…Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA…”
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A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19 by Parmeggiani, Giulia, Minardi, Raffaella, Boni, Antonella, Pruccoli, Jacopo, Pini, Antonella, Licchetta, Laura, Bisulli, Francesca, Graziano, Claudio, Seri, Marco

“…Background: Pathogenic variants of PCDH19, located on the X-chromosome (Xq22.1), cause a rare epileptic encephalopathy with speech and development delay,…”
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Early Implantation as a Main Predictor of Response to Vagus Nerve Stimulation in Childhood-Onset Refractory Epilepsy by Russo, Angelo, Hyslop, Ann, Gentile, Valentina, Chiarello, Daniela, Messana, Tullio, Miller, Ian, Zucchelli, Mino, Lima, Mario, Ragheb, John, Pini, Antonella, Cordelli, Duccio Maria, Resnick, Trevor, Jayakar, Prasanna, Duchowny, Michael

“…Objective: We describe a multicenter experience with vagus nerve stimulator implantation in pediatric patients with drug-resistant epilepsy. Our goal was to…”
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Prevalence of congenital muscular dystrophy in Italy: A population study by Graziano, Alessandra, Bianco, Flaviana, DʼAmico, Adele, Moroni, Isabella, Messina, Sonia, Bruno, Claudio, Pegoraro, Elena, Mora, Marina, Astrea, Guja, Magri, Francesca, Comi, Giacomo P, Berardinelli, Angela, Moggio, Maurizio, Morandi, Lucia, Pini, Antonella, Petillo, Roberta, Tasca, Giorgio, Monforte, Mauro, Minetti, Carlo, Mongini, Tiziana, Ricci, Enzo, Gorni, Ksenija, Battini, Roberta, Villanova, Marcello, Politano, Luisa, Gualandi, Francesca, Ferlini, Alessandra, Muntoni, Francesco, Santorelli, Filippo Maria, Bertini, Enrico, Pane, Marika, Mercuri, Eugenio

“…OBJECTIVE:We provide a nationwide population study of patients with congenital muscular dystrophy in Italy. METHODS:Cases were ascertained from the databases…”
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Relapse risk factors in anti‐N‐methyl‐D‐aspartate receptor encephalitis by Nosadini, Margherita, Granata, Tiziana, Matricardi, Sara, Freri, Elena, Ragona, Francesca, Papetti, Laura, Suppiej, Agnese, Valeriani, Massimiliano, Sartori, Stefano, Bonuccelli, Alice, Beccaria, Francesca, Buechner, Susanne, Buratti, Silvia, Cantalupo, Gaetano, Cappellari, Alberto, Casellato, Susanna, Cesaroni, Elisabetta, Cimaz, Rolando, Cordelli, Duccio Maria, Costa, Paola, Dell’Avvento, Silvia, Dilena, Robertino, Falsaperla, Raffaele, Foiadelli, Thomas, Frigo, Anna Chiara, Fusco, Lucia, Giacobbe, Antonella, Giannotta, Melania, Grazian, Luisa, Maggio, Maria Cristina, Mancardi, Maria Margherita, Melis, Marta, Natali Sora, Maria Grazia, Orsini, Alessandro, Petruzzellis, Antonella, Pini, Antonella, Pruna, Dario, Santangelo, Giuseppe, Savasta, Salvatore, Scaduto, Maria Cristina, Serino, Domenico, Simula, Delia, Solazzi, Roberta, Sotgiu, Stefano, Splendiani, Alessandra, Toldo, Irene, Vigevano, Federico, Viri, Maurizio, Visconti, Paola, Zamponi, Nelia, Zanus, Caterina, Zoccarato, Marco, Zuliani, Luigi

“…Aim To identify factors that may predict and affect the risk of relapse in anti‐N‐methyl‐D‐aspartate receptor (NMDAR) encephalitis. Method This was a…”
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Comparing cortical auditory processing in children with typical and atypical benign epilepsy with centrotemporal spikes: Electrophysiologic evidence of the role of non–rapid eye movement sleep abnormalities by Filippini, Melissa, Boni, Antonella, Giannotta, Melania, Pini, Antonella, Russo, Angelo, Musti, Muriel Assunta, Guerra, Angelo, Lassonde, Maryse, Gobbi, Giuseppe

“…Summary Objective The mismatch negativity (MMN) is an objective measure of central auditory discrimination. MMN alterations have been shown in children with…”
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Effects of tocotrienol supplementation in Friedreich’s ataxia: A model of oxidative stress pathology by Bolotta, Alessandra, Pini, Antonella, Abruzzo, Provvidenza M, Ghezzo, Alessandro, Modesti, Alessandra, Gamberi, Tania, Ferreri, Carla, Bugamelli, Francesca, Fortuna, Filippo, Vertuani, Silvia, Manfredini, Stefano, Zucchini, Cinzia, Marini, Marina

“…Friedreich’s ataxia is an autosomal recessive disorder characterized by impaired mitochondrial function, resulting in oxidative stress. In this study, we aimed…”
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