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104 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: penzo m. Brain. 2024 Nov 5:awae358. doi: 10.1093/brain/awae358. Online ahead of print. Brain. 2024. PMID: 39499670
General loss of proteostasis links Huntington disease to Cockayne syndrome.
Wagner M, Zhu G, Khalid F, Phan T, Maity P, Lupu L, Agyeman-Duah E, Wiese S, Lindenberg KS, Schön M, Landwehrmeyer GB, Penzo M, Kochanek S, Scharffetter-Kochanek K, Mulaw M, Iben S. Wagner M, et al. Among authors: penzo m. Neurobiol Dis. 2024 Oct 15;201:106668. doi: 10.1016/j.nbd.2024.106668. Epub 2024 Sep 14. Neurobiol Dis. 2024. PMID: 39284372 Free article.
A conserved cell-type gradient across the human mediodorsal and paraventricular thalamus.
Schulmann A, Feng N, Auluck PK, Mukherjee A, Komal R, Leng Y, Gao C, Williams Avram SK, Roy S, Usdin TB, Xu Q, Imamovic V, Patel Y, Akula N, Raznahan A, Menon V, Roussos P, Duncan L, Elkahloun A, Singh J, Kelly MC, Halassa MM, Hattar S, Penzo MA, Marenco S, McMahon FJ. Schulmann A, et al. Among authors: penzo ma. bioRxiv [Preprint]. 2024 Sep 5:2024.09.03.611112. doi: 10.1101/2024.09.03.611112. bioRxiv. 2024. PMID: 39282422 Free PMC article. Preprint.
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.
Bello L, Sabbatini D, Fusto A, Gorgoglione D, Borin GU, Penzo M, Riguzzi P, Villa M, Vianello S, Calore C, Melacini P, Vio R, Barp A, D'Angelo G, Gandossini S, Politano L, Berardinelli A, Messina S, Vita GL, Pedemonte M, Bruno C, Albamonte E, Sansone V, Baranello G, Masson R, Astrea G, D'Amico A, Bertini E, Pane M, Lucibello S, Mercuri E, Spurney C, Clemens P, Morgenroth L, Gordish-Dressman H, McDonald CM, Hoffman EP; CINRG-DNHS Investigators; Pegoraro E. Bello L, et al. Among authors: penzo m. J Neuromuscul Dis. 2024;11(2):285-297. doi: 10.3233/JND-230129. J Neuromuscul Dis. 2024. PMID: 38363615 Free PMC article.
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