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302 results

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Page 1
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. Among authors: di rocco m. 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
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia.
Pession A, Di Rocco M, Venturelli F, Tappino B, Morello W, Santoro N, Giordano P, Filippini B, Rinieri S, Russo G, Girardi K, Ruggiero A, Galea E, Antonucci R, Tovaglieri N, Porta F, Tartaglione I, Giona F, Fagioli F, Burlina A; Pediatric Gaucher Study Group. Pession A, et al. Among authors: di rocco m. Orphanet J Rare Dis. 2023 Jun 16;18(1):151. doi: 10.1186/s13023-023-02760-z. Orphanet J Rare Dis. 2023. PMID: 37328863 Free PMC article.
Characterization of flare-ups and impact of garetosmab in adults with fibrodysplasia ossificans progressiva: a post hoc analysis of the randomized, double-blind, placebo-controlled LUMINA-1 trial.
Keen R, Dahir KM, McGinniss J, Sanchez RJ, Mellis S, Economides AN, Di Rocco M, Orcel P, Roux C, Tabarkiewicz J, Bachiller-Corral J, Cheung AM, Al Mukaddam M, Mohammadi K, Gu J, Srinivasan D, Trotter DG, Eekhoff EMW, Kaplan FS, Pignolo RJ. Keen R, et al. Among authors: di rocco m. J Bone Miner Res. 2024 Sep 26;39(10):1486-1492. doi: 10.1093/jbmr/zjae140. J Bone Miner Res. 2024. PMID: 39216107 Free PMC article. Clinical Trial.
Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus.
Bertino F, Mukherjee D, Bonora M, Bagowski C, Nardelli J, Metani L, Zanin Venturini DI, Chianese D, Santander N, Salaroglio IC, Hentschel A, Quarta E, Genova T, McKinney AA, Allocco AL, Fiorito V, Petrillo S, Ammirata G, De Giorgio F, Dennis E, Allington G, Maier F, Shoukier M, Gloning KP, Munaron L, Mussano F, Salsano E, Pareyson D, di Rocco M, Altruda F, Panagiotakos G, Kahle KT, Gressens P, Riganti C, Pinton PP, Roos A, Arnold T, Tolosano E, Chiabrando D. Bertino F, et al. Among authors: di rocco m. Cell Rep Med. 2024 Jul 16;5(7):101647. doi: 10.1016/j.xcrm.2024.101647. Cell Rep Med. 2024. PMID: 39019006 Free PMC article.
Garetosmab in fibrodysplasia ossificans progressiva: a randomized, double-blind, placebo-controlled phase 2 trial.
Di Rocco M, Forleo-Neto E, Pignolo RJ, Keen R, Orcel P, Funck-Brentano T, Roux C, Kolta S, Madeo A, Bubbear JS, Tabarkiewicz J, Szczepanek M, Bachiller-Corral J, Cheung AM, Dahir KM, Botman E, Raijmakers PG, Al Mukaddam M, Tile L, Portal-Celhay C, Sarkar N, Hou P, Musser BJ, Boyapati A, Mohammadi K, Mellis SJ, Rankin AJ, Economides AN, Trotter DG, Herman GA, O'Meara SJ, DelGizzi R, Weinreich DM, Yancopoulos GD, Eekhoff EMW, Kaplan FS. Di Rocco M, et al. Nat Med. 2023 Oct;29(10):2615-2624. doi: 10.1038/s41591-023-02561-8. Epub 2023 Sep 28. Nat Med. 2023. PMID: 37770652 Free PMC article. Clinical Trial.
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
Galosi S, Novelli M, Di Rocco M, Flex E, Messina E, Pollini L, Parrini E, Pisani F, Guerrini R, Leuzzi V, Martinelli S. Galosi S, et al. Among authors: di rocco m. Mov Disord. 2023 Dec;38(12):2313-2314. doi: 10.1002/mds.29585. Epub 2023 Aug 26. Mov Disord. 2023. PMID: 37632268 No abstract available.
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans.
Pannone L, Muto V, Nardecchia F, Di Rocco M, Marchei E, Tosato F, Petrini S, Onorato G, Lanza E, Bertuccini L, Manti F, Folli V, Galosi S, Di Schiavi E, Leuzzi V, Tartaglia M, Martinelli S. Pannone L, et al. Among authors: di rocco m. Front Mol Neurosci. 2023 May 31;16:1170061. doi: 10.3389/fnmol.2023.1170061. eCollection 2023. Front Mol Neurosci. 2023. PMID: 37324589 Free PMC article.
302 results