M
Miriam Rigoldi
Researcher at Mario Negri Institute for Pharmacological Research
Publications - 38
Citations - 934
Miriam Rigoldi is an academic researcher from Mario Negri Institute for Pharmacological Research. The author has contributed to research in topics: Mutation & Glycogen storage disease. The author has an hindex of 17, co-authored 35 publications receiving 774 citations. Previous affiliations of Miriam Rigoldi include University of Milan & University of Milano-Bicocca.
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Journal ArticleDOI
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.
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Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II
Bruno Bembi,Federica Edith Pisa,Marco Confalonieri,Giovanni Ciana,Agata Fiumara,Rossella Parini,Miriam Rigoldi,Arrigo Moglia,Alfredo Costa,Annalisa Carlucci,Cesare Danesino,Maria Gabriela Pittis,Andrea Dardis,Sabrina Ravaglia +13 more
TL;DR: Long-term ERT with rhGAA was shown to be safe, well tolerated, and effective in improving motor function and in stabilizing respiratory function in late-onset GSDII.
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IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Francesca Bertola,Mirella Filocamo,Giorgio Casati,Matthew Mort,Camillo Rosano,Anna Tylki-Szymańska,Beyhan Tüysüz,Orazio Gabrielli,Serena Grossi,Maurizio Scarpa,Giancarlo Parenti,Daniela Antuzzi,Jaime Dalmau,Maja Di Rocco,Carlo Dionisi Vici,İlyas Okur,Jordi Rosell,Attilio Rovelli,Francesca Furlan,Miriam Rigoldi,Andrea Biondi,David Neil Cooper,Rossella Parini +22 more
TL;DR: Data from mutational analysis of the IDUA gene demonstrate the remarkable mutational heterogeneity characterizing type 1 mucopolysaccharidosis but also illustrate the increasing ability to make deductions pertaining to the genotype‐phenotype relationship in disorders manifesting a high degree of allelic heterogeneity.
Journal ArticleDOI
Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients
Rossella Parini,Miriam Rigoldi,Lucia Tedesco,Lucia Boffi,Alessandra Brambilla,Sara Bertoletti,Agata Boncimino,Alessandra Del Longo,Paola De Lorenzo,Renato Maria Gaini,Denise Gallone,Serena Gasperini,Carlo Giussani,M Grimaldi,Daniele Grioni,Pamela Meregalli,Grazia Messinesi,Francesca Nichelli,Marco Romagnoli,Pierluigi Russo,Erik P. Sganzerla,Grazia Valsecchi,Andrea Biondi +22 more
TL;DR: It is suggested that early diagnosis and treatment and other different therapies which are able to cross the blood–brain barrier, might in the future improve the MPS II outcome.
Journal ArticleDOI
Genotype-phenotype correlation in Pompe disease, a step forward
Paola De Filippi,Kolsoum Saeidi,Sabrina Ravaglia,Andrea Dardis,Corrado Angelini,Tiziana Mongini,Lucia Morandi,Maurizio Moggio,Antonio Di Muzio,Massimiliano Filosto,Bruno Bembi,Fabio Giannini,Giovanni Marrosu,Miriam Rigoldi,Paola Tonin,Serenella Servidei,Gabriele Siciliano,Annalisa Carlucci,Claudia Scotti,Mario Comelli,Antonio Toscano,Cesare Danesino +21 more
TL;DR: It is demonstrated that ACE and ACTN3 polymorphisms are genetic factors able to modulate the clinical phenotype of patients affected with Pompe disease.