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Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Brasil S, Leal F, Vega A, Navarrete R, Ecay MJ, Desviat LR, Riera C, Padilla N, de la Cruz X, Couce ML, Martin-Hernández E, Morais A, Pedrón C, Peña-Quintana L, Rigoldi M, Specola N, de Almeida IT, Vives I, Yahyaoui R, Rodríguez-Pombo P, Ugarte M, Pérez-Cerda C, Merinero B, Pérez B. Brasil S, et al. Among authors: rigoldi m. Orphanet J Rare Dis. 2018 Jul 24;13(1):125. doi: 10.1186/s13023-018-0862-y. Orphanet J Rare Dis. 2018. PMID: 30041674 Free PMC article.
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
Cavicchi C, Donati M, Parini R, Rigoldi M, Bernardi M, Orfei F, Gentiloni Silveri N, Colasante A, Funghini S, Catarzi S, Pasquini E, la Marca G, Mooney S, Guerrini R, Morrone A. Cavicchi C, et al. Among authors: rigoldi m. Orphanet J Rare Dis. 2014 Jul 16;9:105. doi: 10.1186/s13023-014-0105-9. Orphanet J Rare Dis. 2014. PMID: 25026867 Free PMC article.
Novel mutations in two unrelated Italian patients with SSADH deficiency.
Balzarini M, Rovelli V, Paci S, Rigoldi M, Sanna G, Pillai S, Asunis M, Parini R, Ciminelli BM, Malaspina P. Balzarini M, et al. Among authors: rigoldi m. Metab Brain Dis. 2019 Oct;34(5):1515-1518. doi: 10.1007/s11011-019-00453-w. Epub 2019 Jul 2. Metab Brain Dis. 2019. PMID: 31267348
Genotype-phenotype correlation in Pompe disease, a step forward.
De Filippi P, Saeidi K, Ravaglia S, Dardis A, Angelini C, Mongini T, Morandi L, Moggio M, Di Muzio A, Filosto M, Bembi B, Giannini F, Marrosu G, Rigoldi M, Tonin P, Servidei S, Siciliano G, Carlucci A, Scotti C, Comelli M, Toscano A, Danesino C. De Filippi P, et al. Among authors: rigoldi m. Orphanet J Rare Dis. 2014 Aug 8;9:102. doi: 10.1186/s13023-014-0102-z. Orphanet J Rare Dis. 2014. PMID: 25103075 Free PMC article.
Morquio B disease: From pathophysiology towards diagnosis.
Caciotti A, Cellai L, Tonin R, Mei D, Procopio E, Di Rocco M, Andaloro A, Antuzzi D, Rampazzo A, Rigoldi M, Forni G, la Marca G, Guerrini R, Morrone A. Caciotti A, et al. Among authors: rigoldi m. Mol Genet Metab. 2021 Mar;132(3):180-188. doi: 10.1016/j.ymgme.2021.01.008. Epub 2021 Feb 1. Mol Genet Metab. 2021. PMID: 33558080
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Cavicchi C, Oussalah A, Falliano S, Ferri L, Gozzini A, Gasperini S, Motta S, Rigoldi M, Parenti G, Tummolo A, Meli C, Menni F, Furlan F, Daniotti M, Malvagia S, la Marca G, Chery C, Morange PE, Tregouet D, Donati MA, Guerrini R, Guéant JL, Morrone A. Cavicchi C, et al. Among authors: rigoldi m. Clin Epigenetics. 2021 Jul 2;13(1):137. doi: 10.1186/s13148-021-01117-2. Clin Epigenetics. 2021. PMID: 34215320 Free PMC article.
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.
Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Pegoraro E, Moggio M, Filosto M, Sette E, Crescimanno G, Tonin P, Parini R, Morandi L, Marrosu G, Greco G, Musumeci O, Di Iorio G, Siciliano G, Donati MA, Carubbi F, Ermani M, Mongini T, Toscano A; Italian GSDII Group. Angelini C, et al. J Neurol. 2012 May;259(5):952-8. doi: 10.1007/s00415-011-6293-5. Epub 2011 Nov 12. J Neurol. 2012. PMID: 22081099
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.
Rossi A, Hoogeveen IJ, Bastek VB, de Boer F, Montanari C, Meyer U, Maiorana A, Bordugo A, Dianin A, Campana C, Rigoldi M, Kishnani PS, Pendyal S, Strisciuglio P, Gasperini S, Parenti G, Parini R, Paci S, Melis D, Derks TGJ. Rossi A, et al. Among authors: rigoldi m. J Inherit Metab Dis. 2020 Jul;43(4):770-777. doi: 10.1002/jimd.12224. Epub 2020 Feb 26. J Inherit Metab Dis. 2020. PMID: 32064649 Free PMC article.
46 results