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Alessia Perna
Researcher at Catholic University of the Sacred Heart
Publications - 27
Citations - 219
Alessia Perna is an academic researcher from Catholic University of the Sacred Heart. The author has contributed to research in topics: Myotonic dystrophy & Internal medicine. The author has an hindex of 6, co-authored 24 publications receiving 129 citations. Previous affiliations of Alessia Perna include The Catholic University of America.
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Journal ArticleDOI
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
Angelica D'Amore,Alessandra Tessa,Carlo Casali,Maria Teresa Dotti,Alessandro Filla,Gabriella Silvestri,Antonella Antenora,Guja Astrea,Melissa Barghigiani,Roberta Battini,Carla Battisti,Irene Bruno,Cristina Cereda,Clemente Dato,Giuseppe Di Iorio,Vincenzo Donadio,Monica Felicori,Nicola Fini,Chiara Fiorillo,Salvatore Gallone,Federica Gemignani,Gian Luigi Gigli,Claudio Graziano,Renzo Guerrini,Fiorella Gurrieri,Ariana Kariminejad,Maria Lieto,Charles Marques Lourenḉo,Alessandro Malandrini,Paola Mandich,Christian Marcotulli,Francesco Mari,Luca Massacesi,Maria A B Melone,Andrea Mignarri,Roberta Milone,Olimpia Musumeci,Elena Pegoraro,Alessia Perna,Antonio Petrucci,Antonella Pini,Francesca Pochiero,Maria Roser Pons,Ivana Ricca,Salvatore Rossi,Marco Seri,Franco Stanzial,Francesca Tinelli,Antonio Toscano,Mariarosaria Valente,Antonio Federico,Anna Rubegni,Filippo M. Santorelli +52 more
TL;DR: This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings, and its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP.
Journal ArticleDOI
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study.
Salvatore Rossi,Giacomo Della Marca,Martina Ricci,Alessia Perna,Tommaso Nicoletti,Valerio Brunetti,Emiliana Meleo,Mariarosaria Calvello,Antonio Petrucci,Giovanni Antonini,Elisabetta Bucci,Loretta Licchelli,Cristina Sancricca,Roberto Massa,Emanuele Rastelli,Annalisa Botta,Antonio Di Muzio,Sonia Romano,Matteo Garibaldi,Gabriella Silvestri +19 more
TL;DR: A high prevalence of restrictive syndrome in DM1 cohort, mainly due to respiratory muscles weakness, was observed and documented; the severity of muscle impairment and the CTG expansion size confirmed to be independent predictors of respiratory restriction.
Journal ArticleDOI
Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56.
Marcella Masciullo,Alessandra Tessa,S. Perazza,Filippo M. Santorelli,Alessia Perna,Gabriella Silvestri +5 more
TL;DR: In this article, a sporadic case of SPG56, a rare complicated form of HSP, was described, being associated to novel mutations in CYP2U1 and showing as novel feature dorsal hydromyelia at spinal cord MRI.
Journal ArticleDOI
Abnormal Cortical Thickness Is Associated With Deficits in Social Cognition in Patients With Myotonic Dystrophy Type 1.
Laura Serra,Guendalina Bianchi,Michela Bruschini,Giovanni Giulietti,Carlotta Di Domenico,Sabrina Bonarota,Antonio Petrucci,Gabriella Silvestri,Alessia Perna,Giovanni Meola,Carlo Caltagirone,Marco Bozzali +11 more
TL;DR: The present study shows both cortical thickness changes in DM1 patients compared to controls and significant associations between cortical thickness and patients' social cognition performances and confirms the presence of widespread brain damages associated with cognitive impairment inDM1 patients.
Journal Article
Use of Bacille Calmette-Guerin (BCG) in multiple sclerosis [5] (multiple letters)
J. J M Kruisdijk,W. H J P Linssen,Giovanni Ristori,Elisabetta Giugni,Stefano Bastianello,Carla Buttinelli,Alessia Perna,Marco Salvetti,Maria Gabriella Buzzi,Umberto Sabatini,F. Viselli,Serena Ruggieri,Claudio Colonnese +12 more