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303 results

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A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A. Barone R, et al. Among authors: di rocco m. J Neurol. 2015 Jan;262(1):154-64. doi: 10.1007/s00415-014-7549-7. Epub 2014 Oct 30. J Neurol. 2015. PMID: 25355454
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Pettinato F, Mostile G, Battini R, Martinelli D, Madeo A, Biamino E, Frattini D, Garozzo D, Gasperini S, Parini R, Sirchia F, Sortino G, Sturiale L, Matthijs G, Morrone A, Di Rocco M, Rizzo R, Jaeken J, Fiumara A, Barone R. Pettinato F, et al. Among authors: di rocco m. Cerebellum. 2021 Aug;20(4):596-605. doi: 10.1007/s12311-021-01242-x. Epub 2021 Feb 22. Cerebellum. 2021. PMID: 33619652 Free PMC article.
Carbohydrate-deficient glycoprotein syndromes: the Italian experience.
Di Rocco M, Barone R, Adami A, Burlina A, Carrozzi M, Dionisi-Vici C, Gatti R, Iannetti P, Parini R, Raucci U, Roccella M, Spada M, Fiumara A. Di Rocco M, et al. J Inherit Metab Dis. 2000 Jun;23(4):391-5. doi: 10.1023/a:1005608019977. J Inherit Metab Dis. 2000. PMID: 10896302 No abstract available.
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.
Manara R, Priante E, Grimaldi M, Santoro L, Astarita L, Barone R, Concolino D, Di Rocco M, Donati MA, Fecarotta S, Ficcadenti A, Fiumara A, Furlan F, Giovannini I, Lilliu F, Mardari R, Polonara G, Procopio E, Rampazzo A, Rossi A, Sanna G, Parini R, Scarpa M. Manara R, et al. Among authors: di rocco m. J Inherit Metab Dis. 2011 Jun;34(3):763-80. doi: 10.1007/s10545-011-9317-5. Epub 2011 Apr 5. J Inherit Metab Dis. 2011. PMID: 21465231
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Parini R, De Lorenzo P, Dardis A, Burlina A, Cassio A, Cavarzere P, Concolino D, Della Casa R, Deodato F, Donati MA, Fiumara A, Gasperini S, Menni F, Pagliardini V, Sacchini M, Spada M, Taurisano R, Valsecchi MG, Di Rocco M, Bembi B. Parini R, et al. Among authors: di rocco m. Orphanet J Rare Dis. 2018 Feb 8;13(1):32. doi: 10.1186/s13023-018-0771-0. Orphanet J Rare Dis. 2018. PMID: 29422078 Free PMC article.
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
Cassandrini D, Biancheri R, Tessa A, Di Rocco M, Di Capua M, Bruno C, Denora PS, Sartori S, Rossi A, Nozza P, Emma F, Mezzano P, Politi MR, Laverda AM, Zara F, Pavone L, Simonati A, Leuzzi V, Santorelli FM, Bertini E. Cassandrini D, et al. Among authors: di capua m, di rocco m. Neurology. 2010 Oct 19;75(16):1459-64. doi: 10.1212/WNL.0b013e3181f88173. Neurology. 2010. PMID: 20956791
Closed Meningo(encephalo)cele: a new feature in Hunter syndrome.
Manara R, Priante E, Grimaldi M, Santoro L, Polonara G, Parini R, Scarpa M; Italian MPS Neuroimaging Study Group. Manara R, et al. AJNR Am J Neuroradiol. 2012 May;33(5):873-7. doi: 10.3174/ajnr.A2867. Epub 2011 Dec 22. AJNR Am J Neuroradiol. 2012. PMID: 22194384 Free PMC article.
303 results