Larrea, D., Tamucci, K. A., Kabra, K., Velasco, K. R., Yun, T. D., Pera, M., Montesinos, J., Agrawal, R. R., Paradas, C., Smerdon, J. W., Lowry, E. R., Stepanova, A., Yoval-Sanchez, B., Galkin, A., Wichterle, H., & Area-Gomez, E. (2025). Altered mitochondria-associated ER membrane (MAM) function shifts mitochondrial metabolism in amyotrophic lateral sclerosis (ALS). Nature Communications, 16(1). https://doi.org/10.1038/s41467-024-51578-1

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

Lee, J. C., Chung, W. K., Pisapia, D. J., & Henderson, C. E. (2024). Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddae190

Santana Almansa, A., Snyder, L. G., Chung, W. K., Bain, J. M., & Srivastava, S. (2024). Motor phenotypes associated with genetic neurodevelopmental disorders. Annals of Clinical and Translational Neurology. Portico. https://doi.org/10.1002/acn3.52231

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

Banack, S. A., Dunlop, R. A., Mehta, P., Mitsumoto, H., Wood, S. P., Han, M., & Cox, P. A. (2024). A microRNA diagnostic biomarker for amyotrophic lateral sclerosis. Brain Communications, 6(5). https://doi.org/10.1093/braincomms/fcae268

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

Yanagihashi, M., Hirayama, T., Shibukawa, M., Nagasawa, J., Fujita, K., Izumi, Y., Morita, M., Bokuda, K., Takahashi, K., Kanai, K., Atsuta, N., Iguchi, Y., Katsuno, M., Murakami, Y., Mitsumoto, H., & Kano, O. (2024). Reliability and consistency of the Japanese version of the Primary Lateral Sclerosis Functional Rating Scale. BMC Neurology, 24(1). https://doi.org/10.1186/s12883-024-03729-6

Coratti, G., Civitello, M., Rohwer, A., Albamonte, E., Montes, J., Glanzman, A. M., Pasternak, A., De Sanctis, R., Young, S. D., Duong, T., Mizzoni, I., Milev, E., Sframeli, M., Morando, S., D’Amico, A., Catteruccia, M., Brolatti, N., Pane, M., Scoto, M., … Mercuri, E. (2024). Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module. Neuromuscular Disorders, 104449. https://doi.org/10.1016/j.nmd.2024.08.006

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

Moura, A. C. M. L. de, Carvalhais, M. B., Sampaio, G. P. C., Pinhati, C. C., Montes, J., & Gurgel-Giannetti, J. (2024). Brazilian version of the Hammersmith Functional Motor Scale Expanded: cross-cultural adaptation and validation. Arquivos de Neuro-Psiquiatria, 82(07), 001–007. CLOCKSS. https://doi.org/10.1055/s-0044-1788587

Pottinger, T. D., Motelow, J. E., Povysil, G., Moreno, C. A. M., Ren, Z., Phatnani, H., Harms, M. B., Kwan, J., Sareen, D., Wang, H.-I., Broach, J. R., Simmons, Z., Arcila-Londono, X., Parrott, S., Lee, E. B., Parrott, S., Deerlin, V. M. V., Fraenkel, E., … Ostrow, L. W. (2024). Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS. BMC Genomics, 25(1). https://doi.org/10.1186/s12864-024-10538-1

Chiriboga, C. A., Bruno, C., Duong, T., Fischer, D., Mercuri, E., Kirschner, J., Kostera-Pruszczyk, A., Jaber, B., Gorni, K., Kletzl, H., Carruthers, I., Martin, C., Scalco, R. S., Fontoura, P., & Muntoni, F. (2024). JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam. Journal of Neurology, 271(8), 4871–4884. https://doi.org/10.1007/s00415-024-12318-z

Harding, E. R., Kanner, C. H., Pasternak, A., Glanzman, A. M., Dunaway Young, S., Rao, A. K., McDermott, M. P., Zolkipli-Cunningham, Z., Day, J. W., Finkel, R. S., Darras, B. T., De Vivo, D. C., & Montes, J. (2024). Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility. Journal of Clinical Medicine, 13(9), 2634. https://doi.org/10.3390/jcm13092634

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

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

Gargano, M. A., Matentzoglu, N., Coleman, B., Addo-Lartey, E. B., Anagnostopoulos, A. V., Anderton, J., Avillach, P., Bagley, A. M., Bakštein, E., Balhoff, J. P., Baynam, G., Bello, S. M., Berk, M., Bertram, H., Bishop, S., Blau, H., Bodenstein, D. F., Botas, P., Boztug, K., … Robinson, P. N. (2023). The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Research, 52(D1), D1333–D1346. https://doi.org/10.1093/nar/gkad1005

Eisen, A., Vucic, S., & Mitsumoto, H. (2024). History of ALS and the competing theories on pathogenesis: IFCN handbook chapter. Clinical Neurophysiology Practice, 9, 1–12. https://doi.org/10.1016/j.cnp.2023.11.004

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

Chung, W., Ziegler, A., Koval-Burt, C., Kay, D., Suchy, S., Bergtrup, A., Langley, K., Amendola, L., Boyd, B., Bradley, J., Brandt, T., Cohen, L., Coffey, A., Devaney, J., Dygulska, B., Friedman, B., Fuleihan, R., Gyimah, A., Hernan, R., … Caggana, M. (2024). O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city. Genetics in Medicine Open, 2, 101369. https://doi.org/10.1016/j.gimo.2024.101369

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

Lee, I., Mitsumoto, H., Lee, S., Kasarskis, E., Rosenbaum, M., Factor‐Litvak, P., & Nieves, J. W. (2023). Higher Glycemic Index and Glycemic Load Diet Is Associated with Slower Disease Progression in Amyotrophic Lateral Sclerosis. Annals of Neurology, 95(2), 217–229. Portico. https://doi.org/10.1002/ana.26825

Kanter, J., Thompson, A. A., Kwiatkowski, J. L., Parikh, S., Mapara, M., Rifkin-Zenenberg, S., Aygun, B., Kasow, K. A., Gupta, A. O., Zhang, L., Sheldon-Waniga, E., Gallagher, M., Gruppioni, K., Chawla, A., Elliot, H., Pierciey, F. J., Walters, M. C., & Tisdale, J. F. (2023). Efficacy, Safety, and Health-Related Quality of Life (HRQOL) in Patients with Sickle Cell Disease (SCD) Who Have Received Lovotibeglogene Autotemcel (Lovo-cel) Gene Therapy: Up to 60 Months of Follow-up. Blood, 142(Supplement 1), 1051–1051. https://doi.org/10.1182/blood-2023-174229

Allen, N. M., O’Rahelly, M., Eymard, B., Chouchane, M., Hahn, A., Kearns, G., Kim, D.-S., Byun, S. Y., Nguyen, C.-T. E., Schara-Schmidt, U., Kölbel, H., Marina, A. D., Schneider-Gold, C., Roefke, K., Thieme, A., Van den Bergh, P., Avalos, G., Álvarez-Velasco, R., Natera-de Benito, D., … Jungbluth, H. (2023). The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD). Brain, 146(10), 4233–4246. https://doi.org/10.1093/brain/awad153

Baranello, G., Chiriboga, C., Servais, L., Darras, B., Day, J., Deconinck, N., Farrar, M., Finkel, R., Bertini, E., Kirschner, J., Rasson, M., Mazurkiewicz-Bełdzińska, M., Vlodavets, D., Bader-Weder, S., Gorni, K., Jaber, B., Yeung, W., Papp, G., Scalco, R., & Mercuri, E. (2023). P230 Safety update: Risdiplam clinical trial program for spinal muscular atrophy (SMA). Neuromuscular Disorders, 33, S92–S93. https://doi.org/10.1016/j.nmd.2023.07.112

Crawford, T., Darras, B., Day, J., De Vivo, D., Mercuri, E., Nascimento, A., Mazzone, E., Waugh, A., Song, G., Evans, R., & Marantz, J. (2023). P224 Effect of apitegromab on motor function at 36 months in patients with nonambulatory spinal muscular atrophy aged 2-12 years old. Neuromuscular Disorders, 33, S91. https://doi.org/10.1016/j.nmd.2023.07.106

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

Uher, D., Goodwin, A. M., De Vivo, D. C., Montes, J., & Garber, C. E. (2023). Impact Of Nusinersen Treatment On Measures Of Exercise Intolerance In Spinal Muscular Atrophy. Medicine & Science in Sports & Exercise, 55(9S), 964–964. https://doi.org/10.1249/01.mss.0000988796.25274.2e

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

Tavakoli, N. P., Gruber, D., Armstrong, N., Chung, W. K., Maloney, B., Park, S., Wynn, J., Koval‐Burt, C., Verdade, L., Tegay, D. H., Cohen, L. L., Shapiro, N., Kennedy, A., Noritz, G., Ciafaloni, E., Weinberger, B., Ellington, M., Schleien, C., … Spinazzola, R. (2023). Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study. Annals of Clinical and Translational Neurology, 10(8), 1383–1396. Portico. https://doi.org/10.1002/acn3.51829

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

Kim, J.-K., Jha, N. N., Awano, T., Caine, C., Gollapalli, K., Welby, E., Kim, S.-S., Fuentes-Moliz, A., Wang, X., Feng, Z., Sera, F., Takeda, T., Homma, S., Ko, C.-P., Tabares, L., Ebert, A. D., Rich, M. M., & Monani, U. R. (2023). A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses. Neuron, 111(9), 1423-1439.e4. https://doi.org/10.1016/j.neuron.2023.02.004

Chiriboga, C. A., Bruno, C., Duong, T., Fischer, D., Mercuri, E., Kirschner, J., Kostera-Pruszczyk, A., Jaber, B., Gorni, K., Kletzl, H., Carruthers, I., Martin, C., Warren, F., Scalco, R. S., Wagner, K. R., Muntoni, F., Deconinck, N., Balikova, I., … Collado, J. (2023). Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study. Neurology and Therapy, 12(2), 543–557. https://doi.org/10.1007/s40120-023-00444-1

Stimpson, G., Ramsey, D., Wolfe, A., Mayhew, A., Scoto, M., Baranello, G., Muni Lofra, R., Main, M., Milev, E., Coratti, G., Pane, M., Sansone, V., D’Amico, A., Bertini, E., Messina, S., Bruno, C., Albamonte, E., Mazzone, E. S., Montes, J., … Muntoni, F. (2023). 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants. Journal of Clinical Medicine, 12(5), 1920. https://doi.org/10.3390/jcm12051920

Hartnett, M. J., Lloyd-Puryear, M. A., Tavakoli, N. P., Wynn, J., Koval-Burt, C. L., Gruber, D., Trotter, T., Caggana, M., Chung, W. K., Armstrong, N., & Brower, A. M. (2022). Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot. International Journal of Neonatal Screening, 8(4), 50. https://doi.org/10.3390/ijns8040050

Šušnjar, U., Škrabar, N., Brown, A.-L., Abbassi, Y., Phatnani, H., Phatnani, H., Fratta, P., Kwan, J., Sareen, D., Broach, J. R., Simmons, Z., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Shneider, N. A., Fraenkel, E., Ostrow, L. W., Baas, F., … Buratti, E. (2022). Cell environment shapes TDP-43 function with implications in neuronal and muscle disease. Communications Biology, 5(1). https://doi.org/10.1038/s42003-022-03253-8

Thakore, N. J., Lapin, B. R., Mitsumoto, H., & Pooled Resource Open‐Access ALS Clinical Trials Consortium. (2022). Early initiation of riluzole may improve absolute survival in amyotrophic lateral sclerosis. Muscle & Nerve, 66(6), 702–708. Portico. https://doi.org/10.1002/mus.27724

Cheung, K., & Mitsumoto, H. (2022). Evaluating Personalized (N-of-1) Trials in Rare Diseases: How Much Experimentation Is Enough? Harvard Data Science Review. https://doi.org/10.1162/99608f92.e11adff0

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

Benatar, M., Wuu, J., Andersen, P. M., Bucelli, R. C., Andrews, J. A., Otto, M., Farahany, N. A., Harrington, E. A., Chen, W., Mitchell, A. A., Ferguson, T., Chew, S., Gedney, L., Oakley, S., Heo, J., Chary, S., Fanning, L., Graham, D., Sun, P., … Fradette, S. (2022). Design of a Randomized, Placebo-Controlled, Phase 3 Trial of Tofersen Initiated in Clinically Presymptomatic SOD1 Variant Carriers: the ATLAS Study. Neurotherapeutics, 19(4), 1248–1258. https://doi.org/10.1007/s13311-022-01237-4

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

Pérez-Torres, E. J., Utkina-Sosunova, I., Mishra, V., Barbuti, P., De Planell-Saguer, M., Dermentzaki, G., Geiger, H., Basile, A. O., Robine, N., Fagegaltier, D., Politi, K. A., Rinchetti, P., Jackson-Lewis, V., Harms, M., Phatnani, H., Lotti, F., Przedborski, S., Phatnani, H., … Traynor, B. J. (2022). Retromer dysfunction in amyotrophic lateral sclerosis. Proceedings of the National Academy of Sciences, 119(26). https://doi.org/10.1073/pnas.2118755119

McCormick, K. L., Tedesco, L. J., Bixby, E. C., Swindell, H. W., Popkin, C. A., & Redler, L. H. (2022). Sinding-Larsen-Johansson Disease: Analysis of the Associated Factors in the Largest Cohort to Date. Orthopaedic Journal of Sports Medicine, 10(5_suppl2). https://doi.org/10.1177/2325967121s00503

Ullal, J., Kutney, K., Williams, K. M., & Weber, D. R. (2022). Treatment of cystic fibrosis related bone disease. Journal of Clinical & Translational Endocrinology, 27, 100291. https://doi.org/10.1016/j.jcte.2021.100291

Thomas-Wilson, A., Dharmadhikari, A. V., Heymann, J. J., Jobanputra, V., DiMauro, S., Hirano, M., Naini, A. B., & Ganapathi, M. (2022). Whole Exome Sequencing detects PYGM variants in two adults with McArdle disease. Molecular Case Studies, mcs.a006173. https://doi.org/10.1101/mcs.a006173

Peterschmitt, M. J., Saiki, H., Hatano, T., Gasser, T., Isaacson, S. H., Gaemers, S. J. M., Minini, P., Saubadu, S., Sharma, J., Walbillic, S., Alcalay, R. N., Cutter, G., Hattori, N., Höglinger, G. U., Marek, K., Schapira, A. H. V., Scherzer, C. R., Simuni, T., … Fischer, T. Z. (2022). Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson’s Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial. Journal of Parkinson’s Disease, 12(2), 557–570. https://doi.org/10.3233/jpd-212714