Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Julia Mela"'
Autor:
Claudia Strafella, Giulia Campoli, Rosaria Maria Galota, Valerio Caputo, Giulia Pagliaroli, Stefania Carboni, Stefania Zampatti, Cristina Peconi, Julia Mela, Cristina Sancricca, Guido Primiano, Giulietta Minozzi, Serenella Servidei, Raffaella Cascella, Emiliano Giardina
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
The diagnosis of LGMD2A (calpainopathy) can be challenging due to genetic heterogeneity and to high similarity with other LGMDs or neuromuscular disorders. In this setting, NGS panels are highly recommended to perform differential diagnosis, identify
Externí odkaz:
https://doaj.org/article/43e02823761e472786c7687376842595
Autor:
Shila, Barati, Carlo, Fabrizio, Claudia, Strafella, Raffaella, Cascella, Valerio, Caputo, Domenica, Megalizzi, Cristina, Peconi, Julia, Mela, Luca, Colantoni, Carlo, Caltagirone, Andrea, Termine, Emiliano, Giardina
Publikováno v:
Genes. 13(8)
In the present review, the main features involved in the susceptibility and progression of neurodegenerative disorders (NDDs) have been discussed, with the purpose of highlighting their potential application for promoting the management and treatment
Autor:
Giuseppe Barrano, Stefania Zampatti, Cristina Peconi, Carlo Caltagirone, Julia Mela, Antonio Novelli, Raffaella Cascella, Ilaria Zito, Giulia Pagliaroli, Filippo Milano, Stefania Carboni, Mauro Arcangeli, G L Marella, Emiliano Giardina
Publikováno v:
Prenatal Diagnosis. 38:1096-1102
Objective The Duchenne/Becker muscular dystrophy (DMD) carrier screening includes the evaluation of mutations in DMD gene, and the most widely used analysis is the multiplex ligation-dependent probe amplification (MLPA) for the DMD deletions/duplicat
Autor:
Julia Mela, Stefania Zampatti, Rosaria Maria Galota, Cristina Sancricca, Valerio Caputo, Raffaella Cascella, Giulietta Minozzi, Emiliano Giardina, Giulia Campoli, Serenella Servidei, Claudia Strafella
Publikováno v:
High-Throughput, Vol 9, Iss 13, p 13 (2020)
High-Throughput
High-Throughput
Genetic counseling applied to limb–girdle muscular dystrophies (LGMDs) can be very challenging due to their clinical and genetic heterogeneity and the availability of different molecular assays. Genetic counseling should therefore be addressed to s
Autor:
Rosaria Maria Galota, Raffaella Cascella, Stefano Gambardella, Claudia Strafella, Giulia Pagliaroli, Valerio Caputo, Luca Colantoni, Giulia Campoli, Emiliano Giardina, Cristina Peconi, Julia Mela, Stefania Zampatti, Stefania Carboni
Publikováno v:
Neurogenetics. 20(2)
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic neuromuscular disorder which mainly affects the muscles of the face, shoulder, and upper arms. FSHD is generally associated with the contraction of D4Z4 macrosatellite repeats on 4q35 chromos
Autor:
Julia Mela, Federico Sciarra, Vincenzo Giglio, Marco Di Gennaro, Mark R. Holland, Giovanni Camastra, Enzo Ricci, Paolo Emilio Puddu, Gerardo Ansalone
The aims of the study were, first, to assess whether myocardial ultrasound tissue characterization (UTC) in Becker muscular dystrophy (BMD) can be used to differentiate between patients with deletions and those without deletions; and second, to deter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3f065358f575bf2e578fe2c606c0db1
http://hdl.handle.net/10807/60767
http://hdl.handle.net/10807/60767
Publikováno v:
Revista Brasileira de Educação Médica, Vol 45, Iss 3 (2021)
Resumo: Introdução: Devido à importância da saúde mental (SM) na prática médica, as Diretrizes Curriculares Nacionais do Curso de Graduação em Medicina (DCN) de 2014 estabeleceram a valorização desse tema. Embora as provas de residência m
Externí odkaz:
https://doaj.org/article/8a95608e97a2483c8f3273ffd0e74a69