Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Stefania Carboni"'
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:
Stefano Gambardella, Rosangela Ferese, Simona Scala, Stefania Carboni, Francesca Biagioni, Giardina Emiliano, Stefania Zampatti, Nicola Modugno, Francesco Fabbiano, Francesco Fornai, Diego Centonze, Stefano Ruggieri
Publikováno v:
Parkinson's Disease, Vol 2018 (2018)
Deletion at 22q11.2 responsible for Di George syndrome (DGs) is a risk factor for early-onset Parkinson’s disease (EOPD). To date, all patients reported with 22q11.2 deletions and parkinsonian features are negative for a family history of PD, and p
Externí odkaz:
https://doaj.org/article/e030afe8d2794200a7a645bcd9674398
Autor:
Stefano Gambardella, Rosangela Ferese, Simona Scala, Stefania Carboni, Francesca Biagioni, Emiliano Giardina, Stefania Zampatti, Nicola Modugno, Francesco Fabbiano, Francesco Fornai, Diego Centonze, Stefano Ruggieri
Publikováno v:
Parkinson's Disease, Vol 2018 (2018)
Externí odkaz:
https://doaj.org/article/4f9fc22abcc444f3a48d074c76b22aca
Autor:
Stefania Carboni, Valeria Errichiello, Michele Ragazzo, Emiliano Giardina, Carlotta Buttini, Valerio Caputo, Giulio Puleri, Laura Manzo
Publikováno v:
Genes, Vol 11, Iss 591, p 591 (2020)
Genes
Volume 11
Issue 6
Genes
Volume 11
Issue 6
Forensic investigation for the identification of offenders, recognition of human remains, and verification of family relationships requires the analysis of particular types of highly informative DNA markers, which have high discriminatory power and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67f9c54f23df5f9a38e1a3eb655f4cbf
https://www.mdpi.com/2073-4425/11/6/591
https://www.mdpi.com/2073-4425/11/6/591
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e023b8fb5d9ec8456bca364c4005205a
https://doi.org/10.1002/pd.5369
https://doi.org/10.1002/pd.5369
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7562b477a8ee69ce0a8a1d3a7e529f82
http://europepmc.org/articles/PMC6826621
http://europepmc.org/articles/PMC6826621
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9e5efeee059c7c94223838155119755
https://pubmed.ncbi.nlm.nih.gov/30911870
https://pubmed.ncbi.nlm.nih.gov/30911870
Autor:
Emiliano Giardina, Simona Scala, Diego Centonze, Rosangela Ferese, Francesco Fabbiano, Stefano Gambardella, Francesca Biagioni, Stefania Zampatti, Nicola Modugno, Stefano Ruggieri, Stefania Carboni, Francesco Fornai
Publikováno v:
Parkinson's Disease, Vol 2018 (2018)
Parkinson's Disease
Parkinson's Disease
Deletion at 22q11.2 responsible for Di George syndrome (DGs) is a risk factor for early-onset Parkinson’s disease (EOPD). To date, all patients reported with 22q11.2 deletions and parkinsonian features are negative for a family history of PD, and p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7b0d09bd6ec6f4ce684e39240b3c0b7
http://hdl.handle.net/2108/202783
http://hdl.handle.net/2108/202783
Autor:
Simona Scala, Rosangela Ferese, Francesco Fabbiano, Nicola Modugno, Stefania Carboni, Stefania Zampatti, Emiliano Giardina, Stefano Ruggieri, Stefano Gambardella, Diego Centonze, Francesco Fornai, Francesca Biagioni
Publikováno v:
Parkinson's Disease, Vol 2018 (2018)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59bc70ad103f682aca7f67190dce7a40
http://hdl.handle.net/11568/934500
http://hdl.handle.net/11568/934500