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
Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria
Benjamin Nota,Eduard A. Struys,Ana Pop,Erwin E.W. Jansen,Matilde R. Fernandez Ojeda,Warsha A. Kanhai,Martijn Kranendijk,Silvy J.M. van Dooren,Marianna R. Bevova,Erik A. Sistermans,Aggie W. M. Nieuwint,Magalie Barth,Tawfeg Ben-Omran,Georg F. Hoffmann,Pascale de Lonlay,Marie T. McDonald,Alf Meberg,Ania C. Muntau,Jean-Marc Nuoffer,Rossella Parini,Marie-Hélène Read,Axel Renneberg,René Santer,Thomas Strahleck,Emile Van Schaftingen,Marjo S. van der Knaap,Cornelis Jakobs,Gajja S. Salomons +27 more
TL;DR: Impaired mitochondrial citrate efflux, demonstrated by stable isotope labeling experiments and the absence of SLC25A1 in fibroblasts harboring certain mutations, suggest that SLC20A1 deficiency is pathogenic, and defects in SLC 25A1 are identified as a cause of combined D- 2- and L-2-hydroxyglutaric aciduria.
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GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
Anna Caciotti,Scott C. Garman,Yadilette Rivera-Colón,Elena Procopio,Serena Catarzi,Lorenzo Ferri,Carmen Guido,Paola Martelli,Rossella Parini,Daniela Antuzzi,Roberta Battini,Michela Sibilio,Alessandro Simonati,Elena Fontana,Alessandro Salviati,Gulcin Akinci,Cristina Cereda,Carlo Dionisi-Vici,Francesca Deodato,Adele D'Amico,Alessandra d'Azzo,Enrico Bertini,Mirella Filocamo,Maurizio Scarpa,Maja Di Rocco,Cynthia J. Tifft,Federica Ciani,Serena Gasperini,Elisabetta Pasquini,Renzo Guerrini,Maria Alice Donati,Amelia Morrone +31 more
TL;DR: A critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease is undertaken, which shows 27 mutations, 9 of which are new: 5 missense, 3 microdeletions and a nonsense mutation and four new genetic variants with a predicted polymorphic nature are identified.
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Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature
Olivier Lidove,Michael West,Guillem Pintos-Morell,Ricardo Reisin,Kathy Nicholls,Luis E. Figuera,Rossella Parini,Luiz R Carvalho,Christoph Kampmann,Gregory M. Pastores,Atul Mehta +10 more
TL;DR: Investigations of early initiation of enzyme replacement therapy to determine the optimal time to start treatment to prevent irreversible organ damage and the value of adjunctive and supportive therapies should also be rigorously analyzed.
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Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia
Mathilde Di Filippo,Philippe Moulin,Pascal Roy,Marie Elisabeth Samson-Bouma,Sophie Collardeau-Frachon,Sabrina Chebel-Dumont,Noël Peretti,Jérôme Dumortier,Fabien Zoulim,T. Fontanges,Rossella Parini,Miriam Rigoldi,Francesca Furlan,Grazia M.S. Mancini,Dominique Bonnefont-Rousselot,Eric Bruckert,Jacques Schmitz,Jean-Yves Scoazec,Sybil Charrière,Sylvie Villar-Fimbel,Frédéric Gottrand,Béatrice Dubern,Diane Doummar,Francesca Joly,Marie Elisabeth Liard-Meillon,Alain Lachaux,Agnès Sassolas +26 more
TL;DR: It is suggested that the genetic defect in VLDL assembly is critical for the occurrence of liver steatosis leading to fibrosis and shows that obesity and insulin resistance might contribute by increasing lipogenesis.
Journal ArticleDOI
Seizure and EEG patterns in Angelman's syndrome.
F. Viani,Antonino Romeo,Maurizio Viri,Massimo Mastrangelo,Faustina Lalatta,Angelo Selicorni,Giuseppe Gobbi,Giovanni Lanzi,Daniela Bettio,V. Briscioli,Marina Di Segni,Rossella Parini,G. L. Terzoli +12 more
TL;DR: It is suggested that, whereas ataxia is a constant symptom in Angelman's syndrome, the occurrence of a transient myoclonic status epilepticus may account for the recurrence of different abnormal movements, namely the jerky ones.