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Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study.
Confalonieri M, Vitacca M, Scala R, Polverino M, Sabato E, Crescimanno G, Ceriana P, Antonaglia C, Siciliano G, Ring N, Zacchigna S, Salton F, Vianello A; AIPO Pneumoloped Group. Confalonieri M, et al. Among authors: crescimanno g. Orphanet J Rare Dis. 2019 Mar 4;14(1):62. doi: 10.1186/s13023-019-1037-1. Orphanet J Rare Dis. 2019. PMID: 30832705 Free PMC article.
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy.
Angelini C, Semplicini C, Ravaglia S, Moggio M, Comi GP, Musumeci O, Pegoraro E, Tonin P, Filosto M, Servidei S, Morandi L, Crescimanno G, Marrosu G, Siciliano G, Mongini T, Toscano A; Italian Group on GSDII. Angelini C, et al. Among authors: crescimanno g. Muscle Nerve. 2012 Jun;45(6):831-4. doi: 10.1002/mus.23340. Muscle Nerve. 2012. PMID: 22581536
The role of respiratory management of Pompe disease.
Ambrosino N, Confalonieri M, Crescimanno G, Vianello A, Vitacca M. Ambrosino N, et al. Among authors: crescimanno g. Respir Med. 2013 Aug;107(8):1124-32. doi: 10.1016/j.rmed.2013.03.004. Epub 2013 Apr 12. Respir Med. 2013. PMID: 23587901 Free article. Review.
1st Italian SMA Family Association Consensus Meeting: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I-III, Rome, Italy, 30-31 January 2015.
Sansone VA, Racca F, Ottonello G, Vianello A, Berardinelli A, Crescimanno G, Casiraghi JL; Italian SMA Family Association. Sansone VA, et al. Among authors: crescimanno g. Neuromuscul Disord. 2015 Dec;25(12):979-89. doi: 10.1016/j.nmd.2015.09.009. Epub 2015 Sep 18. Neuromuscul Disord. 2015. PMID: 26453142 No abstract available.
Management of respiratory complications and rehabilitation in individuals with muscular dystrophies: 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Milan, January 25-26, 2019).
Rao F, Garuti G, Vitacca M, Banfi P, Racca F, Cutrera R, Pavone M, Pedemonte M, Schisano M, Pedroni S, Casiraghi J, Vianello A, Sansone VA; UILDM Respiratory group. Rao F, et al. Acta Myol. 2021 Mar 31;40(1):8-42. doi: 10.36185/2532-1900-045. eCollection 2021 Mar. Acta Myol. 2021. PMID: 33870094 Free PMC article.
Polymorphism in exercise genes and respiratory function in late-onset Pompe disease.
Ravaglia S, Malovini A, Cirio S, Danesino C, De Filippi P, Moggio M, Mongini T, Maggi L, Servidei S, Vianello A, Toscano A, Tonin P, Maioli MA, Parini R, Filosto M, Crescimanno G, Arceri S, Piran M, Carlucci A. Ravaglia S, et al. Among authors: crescimanno g. J Appl Physiol (1985). 2021 Dec 1;131(6):1762-1771. doi: 10.1152/japplphysiol.00154.2020. Epub 2021 Nov 4. J Appl Physiol (1985). 2021. PMID: 34734785 Free article.
Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond.
Toscano A, Musumeci O, Sacchini M, Ravaglia S, Siciliano G, Fiumara A, Verrecchia E, Maione M, Gentile J, Fischetto R, Crescimanno G, Taurisano R, Sechi A, Gasperini S, Cianci V, Maggi L, Parini R, Lupica A, Scarpa M. Toscano A, et al. Among authors: crescimanno g. Orphanet J Rare Dis. 2023 Oct 27;18(1):338. doi: 10.1186/s13023-023-02919-8. Orphanet J Rare Dis. 2023. PMID: 37891668 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. Among authors: crescimanno g. J Neurol. 2012 May;259(5):952-8. doi: 10.1007/s00415-011-6293-5. Epub 2011 Nov 12. J Neurol. 2012. PMID: 22081099
Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up.
Ravaglia S, de Giuseppe R, Carlucci A, Jehne S, Crescimanno G, Ahmad L, Paoletti M, Clemente G, Pichiecchio A, Bazzano R, Cirio S, Valente EM, Danesino C, De Filippi P, Tartara A, Cena H. Ravaglia S, et al. Among authors: crescimanno g. Front Cell Dev Biol. 2022 Feb 18;10:793566. doi: 10.3389/fcell.2022.793566. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35252175 Free PMC article.
122 results