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429 results

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Page 1
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.
Gorgoglione D, Sabbatini D, Riguzzi P, Capece G, Pane M, Servidei S, Briganti M, Sancricca C, Bruschi F, Ardissone A, Masson R, Gallone A, Maggi L, Picillo E, Politano L, Petrosino A, Vianello S, Penzo M, Villa M, Sframeli M, Allegra C, Barp A, Di Bari A, Salmin F, Albamonte E, Colacicco G, Panicucci C, Traverso M, Palermo C, Lerario A, Velardo D, D'Angelo MG, Berardinelli A, Gardani A, Nicotra R, Parravicini S, Siciliano G, Ricci G, Torri F, Gadaleta G, Urbano G, Rolle E, Ricci F, D'Amico A, Catteruccia M, Pini A, Giannotta M, Battini R, Marinella G, Previtali SC, Zambon AA, Ferlini A, Fortunato F, Magri F, Mongini TE, Sansone VA, Bruno C, Messina S, Nigro V, Moroni I, Mercuri E, Bello L, Pegoraro E. Gorgoglione D, et al. Among authors: pini a. Brain. 2024 Nov 5:awae358. doi: 10.1093/brain/awae358. Online ahead of print. Brain. 2024. PMID: 39499670
Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.
Asokan KL, Landes JR, Renders W, Muiño Mosquera L, De Backer J, Jantzen DW, Yetman AT, Teixido-Tura G, Evangelista A, Jeremy R, Jones EG, Morris S, Doan T, Ouzonian M, Braverman A, Jondeau G, Milleron O, Milewicz DM, Prakash SK; Montalcino Aortic Consortium *. Asokan KL, et al. J Am Heart Assoc. 2024 Nov 5;13(21):e036274. doi: 10.1161/JAHA.124.036274. Epub 2024 Oct 18. J Am Heart Assoc. 2024. PMID: 39424426 Free article.
Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded.
Coratti G, Bovis F, Pera MC, Civitello M, Rohwer A, Salmin F, Glanzman AM, Montes J, Pasternak A, De Sanctis R, Dunaway Young S, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, Albamonte E, D'Amico A, Catteruccia M, Brolatti N, Pane M, Scoto M, Messina S, Escudero JE, De Waele L, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Nascimiento Osorio A, Bruno C, Goemans N, Sansone VA, Day J, Baranello G, Muntoni F, Finkel R, Mercuri E; ISMAC/international SMA consortium. Coratti G, et al. Eur J Neurol. 2024 Dec;31(12):e16517. doi: 10.1111/ene.16517. Epub 2024 Oct 11. Eur J Neurol. 2024. PMID: 39392101 Free PMC article.
Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in Italy.
Trucco F, Lizio A, Roma E, di Bari A, Salmin F, Albamonte E, Casiraghi J, Pozzi S, Becchiati S, Antonaci L, Salvalaggio A, Catteruccia M, Tosi M, Marinella G, Danti FR, Bruschi F, Veneruso M, Parravicini S, Fiorillo C, Berardinelli A, Pini A, Moroni I, Astrea G, Battini R, D'Amico A, Ricci F, Pane M, Mercuri EM, Johnson NE, Sansone VA. Trucco F, et al. Among authors: pini a. J Clin Med. 2024 Sep 14;13(18):5459. doi: 10.3390/jcm13185459. J Clin Med. 2024. PMID: 39336946 Free PMC article.
Antibacterial and Anti-Inflammatory Activity of Branched Peptides Derived from Natural Host Defense Sequences.
Meogrossi G, Tollapi E, Rencinai A, Brunetti J, Scali S, Paccagnini E, Gentile M, Lupetti P, Pollini S, Rossolini GM, Bernini A, Pini A, Bracci L, Falciani C. Meogrossi G, et al. Among authors: pini a. J Med Chem. 2024 Sep 26;67(18):16145-16156. doi: 10.1021/acs.jmedchem.4c00810. Epub 2024 Sep 11. J Med Chem. 2024. PMID: 39260445 Free PMC article.
Analysis of the utility of a rapid vesicle isolation method for clinical strains of Pseudomonas aeruginosa.
Henriquez T, Santoro F, Medaglini D, Pallecchi L, Clemente I, Bonechi C, Magnani A, Paccagnini E, Gentile M, Lupetti P, Marvasi M, Pini A, Bracci L, Falciani C. Henriquez T, et al. Among authors: pini a. Microbiol Spectr. 2024 Oct 3;12(10):e0064924. doi: 10.1128/spectrum.00649-24. Epub 2024 Sep 9. Microbiol Spectr. 2024. PMID: 39248554 Free PMC article.
429 results