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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. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
Silverstein S, Orbach R, Syeda S, Foley AR, Gorokhova S, Meilleur KG, Leach ME, Uapinyoying P, Chao KR, Donkervoort S, Bönnemann CG. Silverstein S, et al. Among authors: foley ar. medRxiv [Preprint]. 2024 Mar 26:2024.03.25.24304535. doi: 10.1101/2024.03.25.24304535. medRxiv. 2024. PMID: 38585796 Free PMC article. Preprint.
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean CA, Zaki M, Orbach R, de Winter JM, Conijn S, Hoomoedt D, Neto OLA, Magri F, Viaene AN, Foley AR, Gorokhova S, Bolduc V, Hu Y, Acquaye N, Napoli L, Park JH, Immadisetty K, Miles LB, Essawi M, McModie S, Ferreira LF, Zanotti S, Neuhaus SB, Medne L, ElBagoury N, Johnson KR, Zhang Y, Laing NG, Davis MR, Bryson-Richardson RJ, Hwee DT, Hartman JJ, Malik FI, Kekenes-Huskey PM, Comi GP, Sharaf-Eldin W, Marquardt T, Ravenscroft G, Bönnemann CG, Ottenheijm CAC. Donkervoort S, et al. Among authors: foley ar. Sci Transl Med. 2024 Apr 3;16(741):eadg2841. doi: 10.1126/scitranslmed.adg2841. Epub 2024 Apr 3. Sci Transl Med. 2024. PMID: 38569017
Cardiothoracic Anesthesiology Fellowship Programs Website Assessment and Recommendations for Fellowship Web-based Platforms.
Zhitny VP, Lopez Mora E, Kawana E, Vachirakorntong B, Wajda MC, Kim S, Foley A, Nihalani A, Rehe D, Pospishil L, Ngai J. Zhitny VP, et al. Among authors: foley a. J Educ Perioper Med. 2024 Mar 20;26(1):E723. doi: 10.46374/volxxvi_issue1_zhitny. eCollection 2024 Jan-Mar. J Educ Perioper Med. 2024. PMID: 38516147 Free PMC article. No abstract available.
Intrathecal Gene Therapy for Giant Axonal Neuropathy.
Bharucha-Goebel DX, Todd JJ, Saade D, Norato G, Jain M, Lehky T, Bailey RM, Chichester JA, Calcedo R, Armao D, Foley AR, Mohassel P, Tesfaye E, Carlin BP, Seremula B, Waite M, Zein WM, Huryn LA, Crawford TO, Sumner CJ, Hoke A, Heiss JD, Charnas L, Hooper JE, Bouldin TW, Kang EM, Rybin D, Gray SJ, Bönnemann CG; GAN Trial Team. Bharucha-Goebel DX, et al. Among authors: foley ar. N Engl J Med. 2024 Mar 21;390(12):1092-1104. doi: 10.1056/NEJMoa2307952. N Engl J Med. 2024. PMID: 38507752
490 results