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Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
Mancuso M, Lopriore P, Lamperti C, Klopstock T, Rahman S, Licchetta L, Kornblum C, Wortmann SB, Dollfus H, Papadopoulou MT, Arzimanoglou A, Scarpa M, Graessner H, Evangelista T. Mancuso M, et al. Among authors: scarpa m. J Neurol. 2024 Feb;271(2):835-840. doi: 10.1007/s00415-023-12017-1. Epub 2023 Oct 13. J Neurol. 2024. PMID: 37831128 Free PMC article.
Rare disease education in Europe and beyond: time to act.
Tumiene B, Peters H, Melegh B, Peterlin B, Utkus A, Fatkulina N, Pfliegler G, Graessner H, Hermanns S, Scarpa M, Blay JY, Ashton S, McKay L, Baynam G. Tumiene B, et al. Among authors: scarpa m. Orphanet J Rare Dis. 2022 Dec 19;17(1):441. doi: 10.1186/s13023-022-02527-y. Orphanet J Rare Dis. 2022. PMID: 36536417 Free PMC article.
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.
Nabbout R, Zanello G, Baker D, Black L, Brambilla I, Buske OJ, Conklin LS, Davies EH, Julkowska D, Kim Y, Klopstock T, Nakamura H, Nielsen KG, Pariser AR, Pastor JC, Scarpa M, Smith M, Taruscio D, Groft S. Nabbout R, et al. Among authors: scarpa m. Orphanet J Rare Dis. 2023 May 9;18(1):109. doi: 10.1186/s13023-023-02650-4. Orphanet J Rare Dis. 2023. PMID: 37161573 Free PMC article.
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.
Scarpa M, Barbato A, Bisconti A, Burlina A, Concolino D, Deodato F, Di Rocco M, Dionisi-Vici C, Donati MA, Fecarotta S, Fiumara A, Galeone C, Giona F, Giuffrida G, Manna R, Mariani P, Pession A, Scopinaro A, Spada M, Spandonaro F, Trifirò G, Carubbi F, Cappellini MD. Scarpa M, et al. Intern Emerg Med. 2023 Apr;18(3):831-842. doi: 10.1007/s11739-023-03238-3. Epub 2023 Mar 7. Intern Emerg Med. 2023. PMID: 36882619
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: scarpa m. 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.
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.
Giugliani R, Gonzalez-Meneses A, Scarpa M, Burton B, Wang R, Martins E, Oussoren E, Hennermann JB, Chabrol B, Grant CL, Sun A, Durand C, Hetzer J, Malkus B, Marsden D, Merritt Ii JL. Giugliani R, et al. Among authors: scarpa m. Orphanet J Rare Dis. 2024 May 7;19(1):189. doi: 10.1186/s13023-024-03176-z. Orphanet J Rare Dis. 2024. PMID: 38715031 Free PMC article.
IMMUNOREACT 7: Regular aspirin use is associated with immune surveillance activation in colorectal cancer.
Simoni O, Scarpa M, Castagliuolo I, Stepanyan A, Angriman I, Kotsafti A, Nacci C, Scognamiglio F, Negro S, D'Angelo A, Chiminazzo V, Businello G, Ruffolo C, Salmaso R, Franzato B, Gruppo M, Pilati P, Scapinello A, Pozza A, Stecca T, Massani M, Cataldo I, Brignola S, Dei Tos AP, Ceccon C, Guzzardo V, Vignotto C, Facci L, Maretto I, Agostini M, Marchegiani F, Becherucci G, Zizzo M, Bordignon G, Merenda R, Pirozzolo G, Recordare A, Pozza G, Godina M, Mondi I, Verdi D, Lio CD, Laurino L, Saadeh L, Rivella G, Guerriero S, Romiti C, Portale G, Cipollari C, Spolverato YC, Noaro G, Cola R, Candioli S, Gavagna L, Ricagna F, Ortenzi M, Guerrieri M, Tagliente G, Tomassi M, Tedeschi U, Salmaso B, Buzzi G, Parini D, Prando D, Zuin M, Bergamo F, Zagonel V, Porzionato A, Cavallin F, Camillo BD, Cristoforo LD, Bao QR, Pucciarelli S, Bardini R, Spolverato G, Fassan M, Scarpa M; IMMUNOREACT Study Group. Simoni O, et al. Among authors: scarpa m. Cancer. 2024 Apr 22. doi: 10.1002/cncr.35297. Online ahead of print. Cancer. 2024. PMID: 38644692
Predictors of anastomotic leak and conduit necrosis after oesophagectomy: Results from the oesophago-gastric anastomosis audit (OGAA).
Griffiths EA; Oesophago-Gastric Anastomotic Audit (OGAA) Collaborative; Writing Committee; Data Analysis; Steering Committee; National Leads; Site Leads; Collaborators. Griffiths EA, et al. Eur J Surg Oncol. 2024 Mar 7;50(6):107983. doi: 10.1016/j.ejso.2024.107983. Online ahead of print. Eur J Surg Oncol. 2024. PMID: 38613995
Mucopolysaccharidosis Type II.
Scarpa M. Scarpa M. 2007 Nov 6 [updated 2024 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 Nov 6 [updated 2024 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301451 Free Books & Documents. Review.
684 results