A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes
Ricci, Giulia, Ruggiero, Lucia, Vercelli, Liliana, Sera, Francesco, Nikolic, Ana, Govi, Monica, Mele, Fabiano, Daolio, Jessica, Angelini, Corrado, Antonini, Giovanni, Berardinelli, Angela, Bucci, Elisabetta, Cao, Michelangelo, D’Amico, Maria Chiara, D’Angelo, Grazia, Di Muzio, Antonio, Filosto, Massimiliano, Maggi, Lorenzo, Moggio, Maurizio, Mongini, Tiziana, Morandi, Lucia, Pegoraro, Elena, Rodolico, Carmelo, Santoro, Lucio, Siciliano, Gabriele, Tomelleri, Giuliano, Villa, Luisa, Tupler, Rossella
Published in Journal of neurology (01.06.2016)
Published in Journal of neurology (01.06.2016)
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A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score
Lamperti, Costanza, Fabbri, Greta, Vercelli, Liliana, D'Amico, Roberto, Frusciante, Roberto, Bonifazi, Emanuela, Fiorillo, Chiara, Borsato, Carlo, Cao, Michelangelo, Servida, Maura, Greco, Francesca, Di Leo, Rita, Volpi, Leda, Manzoli, Claudia, Cudia, Paola, Pastorello, Ebe, Ricciardi, Leopoldo, Siciliano, Gabriele, Galluzzi, Giuliana, Rodolico, Carmelo, Santoro, Lucio, Tomelleri, Giuliano, Angelini, Corrado, Ricci, Enzo, Palmucci, Laura, Moggio, Maurizio, Tupler, Rossella
Published in Muscle & nerve (01.08.2010)
Published in Muscle & nerve (01.08.2010)
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MuSK Antibody-Associated Myasthenia Gravis With SARS-CoV-2 Infection: A Case Report
Muhammed, Louwai, Baheerathan, Aravindhan, Cao, Michelangelo, Leite, Maria Isabel, Viegas, Stuart
Published in Annals of Internal Medicine (01.06.2021)
Published in Annals of Internal Medicine (01.06.2021)
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FSHD1 and FSHD2 form a disease continuum
Sacconi, Sabrina, Briand-Suleau, Audrey, Gros, Marilyn, Baudoin, Christian, Lemmers, Richard J L F, Rondeau, Sophie, Lagha, Nadira, Nigumann, Pilvi, Cambieri, Chiara, Puma, Angela, Chapon, Françoise, Stojkovic, Tanya, Vial, Christophe, Bouhour, Françoise, Cao, Michelangelo, Pegoraro, Elena, Petiot, Philippe, Behin, Anthony, Marc, Bras, Eymard, Bruno, Echaniz-Laguna, Andoni, Laforet, Pascal, Salviati, Leonardo, Jeanpierre, Marc, Cristofari, Gaël, van der Maarel, Silvère M
Published in Neurology (07.05.2019)
Published in Neurology (07.05.2019)
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Serological and experimental studies in different forms of myasthenia gravis
Vincent, Angela, Huda, Saif, Cao, Michelangelo, Cetin, Hakan, Koneczny, Inga, Rodriguez‐Cruz, Pedro, Jacobson, Leslie, Viegas, Stuart, Jacob, Saiju, Woodhall, Mark, Nagaishi, Akiko, Maniaol, Angelina, Damato, Valentina, Leite, M. Isabel, Cossins, Judith, Webster, Richard, Palace, Jacqueline, Beeson, David
Published in Annals of the New York Academy of Sciences (01.02.2018)
Published in Annals of the New York Academy of Sciences (01.02.2018)
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Journal Article
Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy
Pastorello, Ebe, Cao, Michelangelo, Trevisan, Carlo P
Published in Clinical neurology and neurosurgery (01.04.2012)
Published in Clinical neurology and neurosurgery (01.04.2012)
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Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy
Scionti, Isabella, Greco, Francesca, Ricci, Giulia, Govi, Monica, Arashiro, Patricia, Vercelli, Liliana, Berardinelli, Angela, Angelini, Corrado, Antonini, Giovanni, Cao, Michelangelo, Di Muzio, Antonio, Moggio, Maurizio, Morandi, Lucia, Ricci, Enzo, Rodolico, Carmelo, Ruggiero, Lucia, Santoro, Lucio, Siciliano, Gabriele, Tomelleri, Giuliano, Trevisan, Carlo Pietro, Galluzzi, Giuliana, Wright, Woodring, Zatz, Mayana, Tupler, Rossella
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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Large scale genotype―phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
RICCI, Giulia, SCIONTI, Isabella, BERARDINELLI, Angela, ANGELINI, Corrado, ANTONINI, Giovanni, BUCCI, Elisabetta, CAO, Michelangelo, DAOLIO, Jessica, DI MUZIO, Antonio, DI LEO, Rita, GALLUZZI, Giuliana, IANNACCONE, Elisabetta, SERA, Francesco, MAGGI, Lorenzo, MARUOTTI, Valerio, MOGGIO, Maurizio, MONGINI, Tiziana, MORANDI, Lucia, NIKOLIC, Ana, PASTORELLO, Ebe, RICCI, Enzo, RODOLICO, Carmelo, SANTORO, Lucio, GOVI, Monica, SERVIDA, Maura, SICILIANO, Gabriele, TOMELLERI, Giuliano, TUPLER, Rossella, D'AMICO, Roberto, FRAMBOLLI, Ilaria, MELE, Fabiano, FILOSTO, Massimiliano, VERCELLI, Liliana, RUGGIERO, Lucia
Published in Brain (London, England : 1878) (01.11.2013)
Published in Brain (London, England : 1878) (01.11.2013)
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PO200 SHP2 inhibition alleviates the pathogenic effects of musk antibodies
Huda, Saif, Michelangelo, Cao, Anna, De Rosa, Mark, Woodhall, Judith, Cossins, Michelangelo, Maestri, Roberta, Ricciardi, David, Beeson, Angela, Vincent
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2017)
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2017)
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IgG1-3 MuSK Antibodies Inhibit AChR Cluster Formation, Restored by SHP2 Inhibitor, Despite Normal MuSK, DOK7, or AChR Subunit Phosphorylation
Cao, Michelangelo, Liu, Wei-Wei, Maxwell, Susan, Huda, Saif, Webster, Richard, Evoli, Amelia, Beeson, David, Cossins, Judith A, Vincent, Angela
Published in Neurology : neuroimmunology & neuroinflammation (01.11.2023)
Published in Neurology : neuroimmunology & neuroinflammation (01.11.2023)
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Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling
Scionti, Isabella, Fabbri, Greta, Fiorillo, Chiara, Ricci, Giulia, Greco, Francesca, D'Amico, Roberto, Termanini, Alberto, Vercelli, Liliana, Tomelleri, Giuliano, Cao, Michelangelo, Santoro, Lucio, Percesepe, Antonio, Tupler, Rossella
Published in Journal of medical genetics (01.03.2012)
Published in Journal of medical genetics (01.03.2012)
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Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry
Nikolic, Ana, Ricci, Giulia, Sera, Francesco, Bucci, Elisabetta, Govi, Monica, Mele, Fabiano, Rossi, Marta, Ruggiero, Lucia, Vercelli, Liliana, Ravaglia, Sabrina, Brisca, Giacomo, Fiorillo, Chiara, Villa, Luisa, Maggi, Lorenzo, Cao, Michelangelo, D'Amico, Maria Chiara, Siciliano, Gabriele, Antonini, Giovanni, Santoro, Lucio, Mongini, Tiziana, Moggio, Maurizio, Morandi, Lucia, Pegoraro, Elena, Angelini, Corrado, Di Muzio, Antonio, Rodolico, Carmelo, Tomelleri, Giuliano, Grazia D'Angelo, Maria, Bruno, Claudio, Berardinelli, Angela, Tupler, Rossella
Published in BMJ open (01.01.2016)
Published in BMJ open (01.01.2016)
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Characterization of pathogenic monoclonal autoantibodies derived from muscle-specific kinase myasthenia gravis patients
Takata, Kazushiro, Stathopoulos, Panos, Cao, Michelangelo, Mané-Damas, Marina, Fichtner, Miriam L, Benotti, Erik S, Jacobson, Leslie, Waters, Patrick, Irani, Sarosh R, Martinez-Martinez, Pilar, Beeson, David, Losen, Mario, Vincent, Angela, Nowak, Richard J, O'Connor, Kevin C
Published in JCI insight (20.06.2019)
Published in JCI insight (20.06.2019)
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Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
Cao, Michelangelo, Donà, Marta, Valentino, Lucia, Semplicini, Claudio, Maresca, Alessandra, Cassina, Matteo, Torraco, Alessandra, Galletta, Eva, Manfioli, Valeria, Sorarù, Gianni, Carelli, Valerio, Stramare, Roberto, Bertini, Enrico, Carozzo, Rosalba, Salviati, Leonardo, Pegoraro, Elena
Published in Neurogenetics (2016)
Published in Neurogenetics (2016)
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SHP2 inhibitor protects AChRs from effects of myasthenia gravis MuSK antibody
Huda, Saif, Cao, Michelangelo, De Rosa, Anna, Woodhall, Mark, Rodriguez Cruz, Pedro M., Cossins, Judith, Maestri, Michelangelo, Ricciardi, Roberta, Evoli, Amelia, Beeson, David, Vincent, Angela
Published in Neurology : neuroimmunology & neuroinflammation (01.01.2020)
Published in Neurology : neuroimmunology & neuroinflammation (01.01.2020)
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Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
Cao, Michelangelo, Donà, Marta, Lucia Valentino, Maria, Semplicini, Claudio, Maresca, Alessandra, Cassina, Matteo, Torraco, Alessandra, Galletta, Eva, Manfioli, Valeria, Sorarù, Gianni, Carelli, Valerio, Stramare, Roberto, Bertini, Enrico, Carrozzo, Rosalba, Salviati, Leonardo, Pegoraro, Elena
Published in Neurogenetics (2017)
Published in Neurogenetics (2017)
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Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
Cao, Michelangelo, Donà, Marta, Valentino, M. Lucia, Semplicini, Claudio, Maresca, Alessandra, Cassina, Matteo, Torraco, Alessandra, Galletta, Eva, Manfioli, Valeria, Sorarù, Gianni, Carelli, Valerio, Stramare, Roberto, Bertini, Enrico, Carozzo, Rosalba, Salviati, Leonardo, Pegoraro, Elena
Published in Neurogenetics (01.04.2016)
Published in Neurogenetics (01.04.2016)
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