Etiology and Management of Abdominal Wall Defects

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Duron, V., Miller, R., Feldstein, N., Schmoke, N., Wu, Y. S., Shirel, T., Ring, L., Landau, R., Azizi, H., Ingrassia, R., Breslin, N., & Simpson, L. (2025). Outcomes Following Fetoscopic Repair of Myelomeningocele: A Prospective Single‐Center Experience. Prenatal Diagnosis. Portico. https://doi.org/10.1002/pd.6781
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Sutherland, C. S., Schneider, S., Ribero, V. A., Simpson, A., Kokaliaris, C., Scalco, R. S., Guittari, C. J., Gorni, K., De Vivo, D. C., Martens, W. B., & Karrer, T. M. (2025). The influence of genotype on the natural history of types 1 - 3 spinal muscular atrophy. Neuromuscular Disorders, 47, 105270. https://doi.org/10.1016/j.nmd.2024.105270
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Coratti, G., Bovis, F., Pera, M. C., Civitello, M., Rohwer, A., Salmin, F., Glanzman, A. M., 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. (2024). Long‐term natural history in type II and III spinal muscular atrophy: a 4‐year international study on the Hammersmith Functional Motor Scale Expanded. European Journal of Neurology, 31(12). Portico. https://doi.org/10.1111/ene.16517
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Tizzano, E. F., Quijano-Roy, S., Servais, L., Parsons, J. A., Aharoni, S., Lakhotia, A., Finkel, R. S., Mercuri, E., Kirschner, J., De Vivo, D. C., Saito, K., Raju, D., Benguerba, K., Dabbous, O., Mumneh, N., Reyna, S. P., & Faulkner, E. (2024). Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec. European Journal of Paediatric Neurology, 53, 18–24. https://doi.org/10.1016/j.ejpn.2024.08.006
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Crawford, T. O., Day, J. W., De Vivo, D. C., Krueger, J. M., Mercuri, E., Nascimento, A., Pasternak, A., Mazzone, E. S., Duong, T., Song, G., Marantz, J. L., Baver, S., Yu, D., Liu, L., & Darras, B. T. (2024). Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study. Frontiers in Neurology, 15. https://doi.org/10.3389/fneur.2024.1419791
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Coratti, G., Bovis, F., Pera, M. C., Scoto, M., Montes, J., Pasternak, A., Mayhew, A., Muni‐Lofra, R., Duong, T., Rohwer, A., Dunaway Young, S., Civitello, M., Salmin, F., Mizzoni, I., Morando, S., Pane, M., Albamonte, E., D’Amico, A., … Brolatti, N. (2024). Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study. European Journal of Neurology, 31(8). Portico. https://doi.org/10.1111/ene.16309
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Trancho, C., Stickney, B., Kinirons, S., Uher, D., Kanner, C. H., Rao, A. K., McDermott, M. P., Garber, C. E., De Vivo, D. C., & Montes, J. (2024). Low Bone Mass in Ambulatory Spinal Muscular Atrophy: A Proactive Approach for an Often-Overlooked Impairment. Journal of Clinical Medicine, 13(5), 1336. https://doi.org/10.3390/jcm13051336
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Wolfe, A., Stimpson, G., Ramsey, D., Coratti, G., Dunaway Young, S., Mayhew, A., Pane, M., Rohwer, A., Muni Lofra, R., Duong, T., O’Reilly, E., Milev, E., Civitello, M., Sansone, V. A., D’Amico, A., Bertini, E., Messina, S., Bruno, C., … Albamonte, E. (2024). Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3. Journal of Neuromuscular Diseases, 11(3), 665–677. https://doi.org/10.3233/jnd-230211
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Servais, L., Day, J. W., De Vivo, D. C., Kirschner, J., Mercuri, E., Muntoni, F., Proud, C. M., Shieh, P. B., Tizzano, E. F., Quijano-Roy, S., Desguerre, I., Saito, K., Faulkner, E., Benguerba, K. M., Raju, D., LaMarca, N., Sun, R., Anderson, F. A., & Finkel, R. S. (2024). Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry. Journal of Neuromuscular Diseases, 11(2), 425–442. https://doi.org/10.3233/jnd-230122
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Proud, C. M., Mercuri, E., Finkel, R. S., Kirschner, J., De Vivo, D. C., Muntoni, F., Saito, K., Tizzano, E. F., Desguerre, I., Quijano‐Roy, S., Benguerba, K., Raju, D., Faulkner, E., & Servais, L. (2023). Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification. Annals of Clinical and Translational Neurology, 10(11), 2155–2160. Portico. https://doi.org/10.1002/acn3.51889
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Crawford, T. O., Swoboda, K. J., De Vivo, D. C., Bertini, E., Hwu, W., Finkel, R. S., Kirschner, J., Kuntz, N. L., Nazario, A. N., Parsons, J. A., Pechmann, A., Ryan, M. M., Butterfield, R. J., Topaloglu, H., Ben‐Omran, T., Sansone, V. A., Jong, Y., Shu, F., … Zhu, C. (2023). Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of theNURTUREstudy. Muscle & Nerve, 68(2), 157–170. Portico. https://doi.org/10.1002/mus.27853
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Dunaway Young, S., Montes, J., Glanzman, A. M., Gee, R., Day, J. W., Finkel, R. S., Darras, B. T., De Vivo, D. C., Gambino, G., Foster, R., Wong, J., Garafalo, S., & Berger, Z. (2023). Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function. Journal of Clinical Medicine, 12(15), 4901. https://doi.org/10.3390/jcm12154901
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Serra, C. F. H., Liu, H., Qian, J., Mori, M., Lu, J., & Cardoso, W. V. (2022). Prominin 1 and Notch regulate ciliary length and dynamics in multiciliated cells of the airway epithelium. IScience, 25(8), 104751. https://doi.org/10.1016/j.isci.2022.104751
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Strauss, K. A., Farrar, M. A., Muntoni, F., Saito, K., Mendell, J. R., Servais, L., McMillan, H. J., Finkel, R. S., Swoboda, K. J., Kwon, J. M., Zaidman, C. M., Chiriboga, C. A., Iannaccone, S. T., Krueger, J. M., Parsons, J. A., Shieh, P. B., Kavanagh, S., Tauscher-Wisniewski, S., McGill, B. E., & Macek, T. A. (2022). Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nature Medicine, 28(7), 1381–1389. https://doi.org/10.1038/s41591-022-01866-4
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Strauss, K. A., Farrar, M. A., Muntoni, F., Saito, K., Mendell, J. R., Servais, L., McMillan, H. J., Finkel, R. S., Swoboda, K. J., Kwon, J. M., Zaidman, C. M., Chiriboga, C. A., Iannaccone, S. T., Krueger, J. M., Parsons, J. A., Shieh, P. B., Kavanagh, S., Wigderson, M., Tauscher-Wisniewski, S., … Macek, T. A. (2022). Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nature Medicine, 28(7), 1390–1397. https://doi.org/10.1038/s41591-022-01867-3
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