Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes
Monda, Emanuele, Lioncino, Michele, Caiazza, Martina, Simonelli, Vincenzo, Nesti, Claudia, Rubino, Marta, Perna, Alessia, Mauriello, Alfredo, Budillon, Alberta, Pota, Vincenzo, Bruno, Giorgia, Varone, Antonio, Nigro, Vincenzo, Santorelli, Filippo Maria, Pacileo, Giuseppe, Russo, Maria Giovanna, Frisso, Giulia, Sampaolo, Simone, Limongelli, Giuseppe
Published in International journal of molecular sciences (22.05.2023)
Published in International journal of molecular sciences (22.05.2023)
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Journal Article
Longins: a new evolutionary conserved VAMP family sharing a novel SNARE domain
Filippini, Francesco, Rossi, Valeria, Galli, Thierry, Budillon, Alberta, D'Urso, Michele, D'Esposito, Maurizio
Published in Trends in biochemical sciences (Amsterdam. Regular ed.) (01.07.2001)
Published in Trends in biochemical sciences (Amsterdam. Regular ed.) (01.07.2001)
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MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region
Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Della Ragione, Floriana, De Bonis, Maria Luigia, Mercadante, Grazia, Manzati, Elisa, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, Macdonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hulten, Maj
Published in Brain & development (Tokyo. 1979) (01.12.2001)
Published in Brain & development (Tokyo. 1979) (01.12.2001)
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Conference Proceeding
Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies
Lioncino, Michele, Monda, Emanuele, Caiazza, Martina, Simonelli, Vincenzo, Nesti, Claudia, Mauriello, Alfredo, Budillon, Alberta, Di Santo, Alessandro, Bruno, Giorgia, Varone, Antonio, Nigro, Vincenzo, Santorelli, Filippo Maria, Pacileo, Giuseppe, Russo, Maria Giovanna, Frisso, Giulia, Sampaolo, Simone, Limongelli, Giuseppe
Published in Circulation. Genomic and precision medicine (01.08.2023)
Published in Circulation. Genomic and precision medicine (01.08.2023)
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Corrigendum to “MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region” [Brain Dev 2001; 23: S246–50]
Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Ragione, Floriana Della, De Bonis, Maria Luigia, Mercadante, Grazia, Manzati, Elisa, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D’Urso, Michele, D’Esposito, Maurizio, Macdonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hulten, Maj
Published in Brain & development (Tokyo. 1979) (01.11.2012)
Published in Brain & development (Tokyo. 1979) (01.11.2012)
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Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
VACCA, Marcella, FILIPPINI, Francesco, CALZOLARI, Elisa, FERLINI, Alessandra, MELONI, Ilaria, HAYEK, Giuseppe, ZAPPELLA, Michele, RENIERI, Alessandra, D'URSO, Michele, D'ESPOSITO, Maurizio, MACDONALD, Fiona, KERR, Alison, BUDILLON, Alberta, DHANJAL, Seema, HULTEN, Maj, ROSSI, Valeria, MERCADANTE, Grazia, MANZATI, Elisa, GUALANDI, Francesca, BIGONI, Stefania, TRABANELLI, Cecilia, PINI, Giorgio
Published in Journal of molecular medicine (Berlin, Germany) (01.01.2001)
Published in Journal of molecular medicine (Berlin, Germany) (01.01.2001)
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