R
Rossella Parini
Researcher at University of Milano-Bicocca
Publications - 201
Citations - 7423
Rossella Parini is an academic researcher from University of Milano-Bicocca. The author has contributed to research in topics: Enzyme replacement therapy & Fabry disease. The author has an hindex of 43, co-authored 197 publications receiving 6452 citations. Previous affiliations of Rossella Parini include University of Padua & University of Milan.
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Journal ArticleDOI
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
Antonella Spinazzola,Carlo Viscomi,Erika Fernandez-Vizarra,Franco Carrara,Pio D'Adamo,Sarah E. Calvo,Sarah E. Calvo,René Massimiliano Marsano,Claudia Donnini,Hans Weiher,Pietro Strisciuglio,Rossella Parini,Emmanuelle Sarzi,Alicia Chan,Salvatore DiMauro,Agnès Rötig,Paolo Gasparini,Iliana Ferrero,Vamsi K. Mootha,Vamsi K. Mootha,Valeria Tiranti,Massimo Zeviani +21 more
TL;DR: It is demonstrated that, contrary to the alleged peroxisomal localization of the MPV17 gene product, MPV 17 is a mitochondrial inner membrane protein, and its absence or malfunction causes oxidative phosphorylation (OXPHOS) failure and mtDNA depletion, not only in affected individuals but also in Mpv17−/− mice.
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Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA
Gianfrancesco Ferrari,Eleonora Lamantea,Alice Donati,Massimiliano Filosto,Egill Briem,Franco Carrara,Rossella Parini,Alessandro Simonati,René Santer,Massimo Zeviani +9 more
TL;DR: Analysis of POLG1, the gene encoding the catalytic subunit of mitochondrial DNA polymerase, revealed that all the patients carried different allelic mutations in this gene, indicating that Alpers' syndrome is a major disease gene in mitochondrial disorders.
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Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation : an international multicenter study
Mieke Aldenhoven,Robert Wynn,Paul J. Orchard,Anne O'Meara,Paul Veys,Alain Fischer,Vassili Valayannopoulos,Bénédicte Neven,Attilio Rovelli,Vinod K. Prasad,Jakub Tolar,Heather B. Allewelt,Simon Jones,Rossella Parini,Marleen Renard,Victoria Bordon,Nico M Wulffraat,Tom J. de Koning,Elsa Shapiro,Joanne Kurtzberg,Jaap Jan Boelens +20 more
TL;DR: In this article, the authors identify predictors of the long-term outcome of patients with MPS-IH after successful hematopoietic cell transplantation (HCT).
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Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
Marieke Biegstraaten,Reynir Arngrímsson,Frédéric Barbey,Lut Boks,Franco Cecchi,Patrick Deegan,Ulla Feldt-Rasmussen,Tarekegn Geberhiwot,Dominique P. Germain,Christian J. Hendriksz,Derralynn Hughes,Ilkka Kantola,Nesrin Karabul,Christine Lavery,Gabor E. Linthorst,Atul Mehta,Erica van de Mheen,João Paulo Oliveira,Rossella Parini,Uma Ramaswami,Michael A. Rudnicki,Andreas L. Serra,Claudia Sommer,Gere Sunder-Plassmann,Einar Svarstad,Annelies Sweeb,Wim Terryn,Anna Tylki-Szymańska,Camilla Tøndel,Bojan Vujkovac,Frank Weidemann,Frits A. Wijburg,Peter Woolfson,Carla E. M. Hollak +33 more
TL;DR: In this article, the authors defined European consensus recommendations for the initiation and cessation of Enzyme Replacement Therapy (ERT) in patients with Fabry disease, which may halt or attenuate disease progression.
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The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents
Markus Ries,Markus Ries,Uma Ramaswami,Rossella Parini,Bengt Lindblad,Catharina Whybra,I. Willers,Andreas Gal,Michael Beck +8 more
TL;DR: It is crucial for paediatric Fabry disease patients to have early access to optimal supportive symptomatic management and enzyme replacement therapy should be initiated at an early stage, prior to the onset of irreversible complications.