Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Giulia Campoli"'
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:
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:
Andrea Termine, Claudia Strafella, Giulia Campoli, Gianfranco Spalletta, Carlo Caltagirone, Valerio Caputo, Carlo Fabrizio, Raffaella Cascella, Laura Petrosini, Michele Ragazzo, Clelia Pellicano, Stefania Zampatti, Emiliano Giardina
Publikováno v:
Journal of Personalized Medicine
Volume 11
Issue 9
Journal of Personalized Medicine, Vol 11, Iss 851, p 851 (2021)
Volume 11
Issue 9
Journal of Personalized Medicine, Vol 11, Iss 851, p 851 (2021)
The management of neuropsychiatric disorders involves different pharmacological treatments. In order to perform efficacious drug treatments, the metabolism of CYP genes can help to foresee potential drug–drug interactions. The NeuroPGx software is
Autor:
Nicola Iozzo, Rosaria Maria Galota, Stefania Carboni, Giulia Campoli, Emiliano Giardina, Giuseppe Novelli, Claudia Strafella, Giulia Pagliaroli, Stefania Zampatti, Raffaella Cascella, Cristina Peconi, Giulietta Minozzi, Valerio Caputo
Publikováno v:
Genes
Volume 10
Issue 10
Genes, Vol 10, Iss 10, p 792 (2019)
Volume 10
Issue 10
Genes, Vol 10, Iss 10, p 792 (2019)
This work describes the application of NGS for molecular diagnosis of RP in a family with a history of severe hypovision. In particular, the proband received a clinical diagnosis of RP on the basis of medical, instrumental examinations and his family
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:
Raffaella Cascella, Claudia Strafella, Luca Colantoni, Giulia Campoli, Chiara Orsini, Enzo Ricci, Rosaria Maria Galota, Valerio Caputo, Cristina Bax, Giulietta Minozzi, Emiliano Giardina, Luisa Politano, Giuseppe Novelli, Giorgio Tasca
Publikováno v:
Human Molecular Genetics
In this study, we investigated the sequence of (Structural Maintenance of Chromosomes flexible Hinge Domain containing 1) SMCHD1 gene in a cohort of clinically defined FSHD (facioscapulohumeral muscular dystrophy) patients in order to assess the dist
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae7b9aec65db93218d058f880f55697a
http://hdl.handle.net/10807/147346
http://hdl.handle.net/10807/147346