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Page 1
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy.
Mazzone E, Martinelli D, Berardinelli A, Messina S, D'Amico A, Vasco G, Main M, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Carlesi A, Bonetti AM, Zucchini E, De Sanctis R, Scutifero M, Bianco F, Rossi F, Motta MC, Sacco A, Donati MA, Mongini T, Pini A, Battini R, Pegoraro E, Pane M, Pasquini E, Bruno C, Vita G, de Waure C, Bertini E, Mercuri E. Mazzone E, et al. Among authors: martinelli d, d amico a. Neuromuscul Disord. 2010 Nov;20(11):712-6. doi: 10.1016/j.nmd.2010.06.014. Epub 2010 Jul 14. Neuromuscul Disord. 2010. PMID: 20634072
Cobalamin C defect presenting as severe neonatal hyperammonemia.
Martinelli D, Dotta A, Massella L, Picca S, Di Pede A, Boenzi S, Aiello C, Dionisi-Vici C. Martinelli D, et al. Eur J Pediatr. 2011 Jul;170(7):887-90. doi: 10.1007/s00431-010-1371-8. Epub 2010 Dec 10. Eur J Pediatr. 2011. PMID: 21153419
Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy.
Bianchi M, Rizza T, Verrigni D, Martinelli D, Tozzi G, Torraco A, Piemonte F, Dionisi-Vici C, Nobili V, Francalanci P, Boldrini R, Callea F, Santorelli FM, Bertini E, Carrozzo R. Bianchi M, et al. Among authors: martinelli d. Biochem Biophys Res Commun. 2011 Nov 18;415(2):300-4. doi: 10.1016/j.bbrc.2011.10.049. Epub 2011 Oct 18. Biochem Biophys Res Commun. 2011. PMID: 22027147 Free PMC article.
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
Martinelli D, Häberle J, Rubio V, Giunta C, Hausser I, Carrozzo R, Gougeard N, Marco-Marín C, Goffredo BM, Meschini MC, Bevivino E, Boenzi S, Colafati GS, Brancati F, Baumgartner MR, Dionisi-Vici C. Martinelli D, et al. J Inherit Metab Dis. 2012 Sep;35(5):761-76. doi: 10.1007/s10545-011-9411-8. Epub 2011 Dec 15. J Inherit Metab Dis. 2012. PMID: 22170564
Creatine metabolism in urea cycle defects.
Boenzi S, Pastore A, Martinelli D, Goffredo BM, Boiani A, Rizzo C, Dionisi-Vici C. Boenzi S, et al. Among authors: martinelli d. J Inherit Metab Dis. 2012 Jul;35(4):647-53. doi: 10.1007/s10545-012-9494-x. Epub 2012 May 30. J Inherit Metab Dis. 2012. PMID: 22644604
451 results