The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study

Autor: Claudio Bruno, Giorgia Bruno, Annarita Ferrari, Federico Sicca, Lucia Ruggiero, Roberta Battini, Daniele Orsucci, Renzo Guerrini, M. Alice Donati, Francesca Pochiero, Anna Rubegni, Martino Montomoli, Francesco Mari, Deborah Tolomeo, Chiara Fiorillo, Claudia Nesti, Simone Sampaolo, Filippo M. Santorelli, Denise Cassandrini, Stefano Doccini, Elena Procopio, Jacopo Baldacci, Chiara Ticci, Simona Fiori

Publikováno v: Journal of Clinical Medicine; Volume 10; Issue 15; Pages: 3222
Journal of Clinical Medicine, Vol 10, Iss 3222, p 3222 (2021)
Journal of Clinical Medicine

Mitochondrial diseases (MDs) are a large group of genetically determined multisystem disorders, characterized by extreme phenotypic heterogeneity, attributable in part to the dual genomic control (nuclear and mitochondrial DNA) of the mitochondrial p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d8cc05ede8973b7205921082ae01381
http://hdl.handle.net/11567/1065202

Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission

Autor: Roberta Battini, Claudia Nesti, Marilena Pantaleo, Stefano Doccini, Francesca Pochiero, Rosa Pasquariello, Elena Procopio, Alessandra Tessa, Sabrina Giglio, Deborah Tolomeo, Anna Rubegni, Maria Alice Donati, Melissa Barghigiani, Filippo M. Santorelli, Daniele Galatolo, Francesca D’Amore, Silvia Guarducci

The heterogeneous group of mitochondrial disorders (MDs) is by far the largest class of inborn errors of metabolism, having a collective incidence of 1.6 in 5000.1 Over the past decade, routine clinical use of next-generation sequencing (NGS) has all

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4bf4502e02e458ffad9c16a2a0e35cd
http://hdl.handle.net/11568/1116300

Clinical and neuroimaging features of the m.10197GA mtDNA mutation: New case reports and expansion of the phenotype variability

Autor: Stefano Doccini, Francesca D’Amore, Marina Pedemonte, Annalisa Madeo, Francesca Pochiero, M.A. Donati, Andrea Rossi, Mariasavina Severino, M. Di Rocco, Anna Rubegni, Deborah Tolomeo, Claudia Nesti, Denise Cassandrini, Filippo M. Santorelli, Claudio Bruno

Publikováno v: Journal of the neurological sciences. 399

Complex I (CI) is the largest component of the mitochondrial respiratory chain (MRC) and it is made up of 7 mitochondrial DNA (mtDNA)-encoded and at least 38 nuclear DNA-encoded subunits. Isolated CI deficiency is the most common single enzyme defici

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf8f98c77e558d6735597dbb050395b7
https://pubmed.ncbi.nlm.nih.gov/30978516

Active Surveillance Systems for Early Detection and Improved Recall Decision Making

Autor: Deborah Tolomeo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::43493ca8f466e65877473a1f9c91c75b
https://doi.org/10.1520/stp48993s

Active Surveillance Systems for Early Detection and Improved Recall Decision Making

Autor: Deborah Tolomeo, Kenneth L. Jerina, Michael R. Mitchell, Terry O. Woods, Brian T. Berg, S. W. Dean

Publikováno v: Journal of ASTM International. 6:102204

Medical device recalls have received significant publicity regarding the timeliness and breadth of the response by the manufacturer. It has been suggested that third party oversight and enhanced public disclosure would improve the recall process. Thi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a5c4f96bd21159d2d8d8e2b0cafbb4fb
https://doi.org/10.1520/jai102204