Détail de l'auteur
Auteur Bugiardini E |
Documents disponibles écrits par cet auteur (14)

![]()
Article
Cortese A, Auteur ; Zhu Y ; Rebelo AP ; Negri S ; Courel S ; Abreu L ; Bacon CJ ; Bai Y ; Bis-Brewer DM ; Bugiardini E ; Buglo E ; Danzi MC ; Feely SME ; Athanasiou-Fragkouli A ; Haridy NA ; Isasi R ; Khan A ; Laura M ; Magri S ; Pipis M ; Pisciotta C ; Powell E ; Rossor AM ; Saveri P ; Sowden JE ; Tozza S ; Vandrovcova J ; Dallman J ; Grignani E ; Marchioni E ; Scherer SS ; Tang B ; Lin Z ; Al-Ajmi A ; Schule R ; Synofzik M ; Maisonobe T ; Stojkovic T ; Auer-Grumbach M ; Abdelhamed MA ; Hamed SA ; Zhang R ; Manganelli F ; Santoro L ; Taroni F ; Pareyson D ; Houlden H ; Herrmann DN ; Reilly MM ; Shy ME ; Zhai RG ; Züchner S | United States | 05/2020![]()
Article
![]()
Article
Bugiardini E, Auteur ; Bugiardini E ; Morrow JM ; Shah S ; Wood CL ; Lynch DS ; Pitmann AM ; Reilly MM ; Houlden H ; Matthews E ; Parton M ; Hanna MG ; Straub V ; Yousry TA | 2018![]()
Article
Bugiardini E ; Rivolta I ; Binda A ; Soriano Caminero A ; Cirillo F ; Cinti A ; Giovannoni R ; Botta A ; Cardani R ; Wicklund MP ; Meola G | 04/2015In myotonic dystrophy type 2 (DM2), an association has been reported between early and severe myotonia and recessive chloride channel (CLCN1) mutations. No DM2 cases have been described with sodium channel gene (SCN4A) mutations. The aim is to d[...]![]()
Article
Suetterlin KJ, Auteur ; Bugiardini E ; Kaski JP ; Morrow JM ; Matthews E ; Hanna MG ; Fialho D | 2015![]()
Article
Perfetti A, Auteur ; Greco S, Auteur ; Fasanaro P, Auteur ; Bugiardini E, Auteur ; Cardani R, Auteur ; Garcia Manteiga JM, Auteur ; Riba M, Auteur ; Citarro D, Auteur ; Stupka E, Auteur ; Meola G, Auteur ; Martelli F, Auteur | 04/2014![]()
Article
Cardani R ; Giagnacovo M ; Rossi G ; Renna LV ; Bugiardini E ; Pizzamiglio C ; Botta A ; Meola G | 2014![]()
Article
Bugiardini E ; Meola G ; DM-CNS Group | 2014Thirty-four clinicians, scientists and representatives from industries convened for a workshop on cerebral involvement in myotonic dystrophy (DM). The workshop was held in Ferrere (Asti) from May 24th to 27th 2013 and as the previous one had the[...]![]()
Article
Perfetti A ; Greco S ; Bugiardini E ; Cardani R ; Gaia P ; Gaetano C ; Meola G ; Martelli F | 2014![]()
Article
Cardani R ; Bugiardini E ; Renna LV ; Rossi G ; Colombo G ; Valaperta R ; Novelli G ; Botta A ; Meola G | 12/2013![]()
Article
Passeri E ; Bugiardini E ; Sansone VA ; Valaperta R ; Costa E ; Ambrosi B ; Meola G ; Corbetta S | 2013Accès au résumé Pubmed/to pubmed abstract![]()
Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cardani R ; Greco S ; Sarra-Ferraris G ; Bugiardini E ; Meola G ; Martelli F | 2011Myotonic dystrophy type 1(DM1) is a dominantly inherited multisystemic disorder affecting skeletal muscle, heart, eye, and the endocrine system. DM1 is caused by expansion of a CTG repeat in the 3'UTR of DMPK gene. This genetic lesion leads to t[...]![]()
Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bugiardini E ; Passeri E ; Sansone V ; Ambrosi B ; Corbetta S ; Renna LV ; Cardani R ; Meola G | 2011DM1 and DM2 are progressive multisystem genetic disorders that share a similar pathogenetic mechanism and clinical manifestations. The endocrine features include insulin resistance and testicular failure. Some clinical studies showed how hypogon[...]