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The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: merlini l. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Arthroscopic suture in the management of palmar midcarpal instability.
de Villeneuve Bargemon JB, Mari R, Mathoulin C, Prenaud C, Merlini L. de Villeneuve Bargemon JB, et al. Among authors: merlini l. Bone Joint J. 2024 Mar 1;106-B(3):262-267. doi: 10.1302/0301-620X.106B3.BJJ-2023-0608.R3. Bone Joint J. 2024. PMID: 38423102
Association of tumor-infiltrating lymphocytes with recurrence score in hormone receptor-positive/HER2-negative breast cancer: Analysis of four prospective studies.
Miglietta F, Dieci MV, Giarratano T, Torri V, Giuliano M, Zustovich F, Mion M, Tondini CA, De Rossi C, Bria E, Franchi M, Merlini L, Giannatiempo R, Russo D, Fotia V, Poletti P, Caremoli ER, Arpino MG, De Salvo GL, Zambelli A, Guarneri V. Miglietta F, et al. Among authors: merlini l. Eur J Cancer. 2023 Dec;195:113399. doi: 10.1016/j.ejca.2023.113399. Epub 2023 Oct 26. Eur J Cancer. 2023. PMID: 37950941 Free article.
Lunate Pseudarthrosis: Our Clinical Experience.
Teodonno F, Arnaout A, Merlini L, Gras M. Teodonno F, et al. Among authors: merlini l. J Hand Surg Asian Pac Vol. 2023 Aug;28(4):467-471. doi: 10.1142/S2424835523500534. Epub 2023 Sep 25. J Hand Surg Asian Pac Vol. 2023. PMID: 37758491
480 results