AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

Mendell, J. R., Al-Zaidy, S., Shell, R., Arnold, W. D., Rodino-Klapac, L. R., Prior, T. W., Lowes, L., Alfano, L., Berry, K., Church, K., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1706198 · Cited by 2,381

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

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Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

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Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

Feldkötter, M., Schwarzer, V., Wirth, R., Wienker, T. F., & Wirth, B. (2002) · The American Journal of Human Genetics · doi:10.1086/338627 · Cited by 1,005

Emerging issues in AAV-mediated in vivo gene therapy

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Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant

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Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

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Spinal Muscular Atrophy

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Observational study of spinal muscular atrophy type I and implications for clinical trials

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Measurement and Standardization Protocols for Anthropometry Used in the Construction of a New International Growth Reference

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Neurologic orphan diseases: Emerging innovations and role for genetic treatments

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A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models

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ATMP Environmental Exposure Assessment in European Healthcare Settings: A Systematic Review of the Literature

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Internal Introns Promote Backsplicing to Generate Circular RNAs from Spinal Muscular Atrophy Gene

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Clinical outcome assessments in Duchenne muscular dystrophy and spinal muscular atrophy: past, present and future

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Bibliometric analysis of global research trends in adeno-associated virus vector for gene therapy (1991-2022)

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Gene therapy in neuromuscular disorders

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Clinical gene therapy development for the central nervous system: Candidates and challenges for AAVs

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Evidence Synthesis of Gene Therapy and Gene Editing from Different Disorders—Implications for Individuals with Rett Syndrome: A Systematic Review

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Breaking Boundaries in the Brain—Advances in Editing Tools for Neurogenetic Disorders

Coorey, B., & Gold, W. A. (2021) · Frontiers in Genome Editing · doi:10.3389/fgeed.2021.623519 · Cited by 7

Precision medicine for genetic childhood movement disorders

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Patient and Caregiver Outcomes After Onasemnogene Abeparvovec Treatment: Findings from the Cure SMA 2021 Membership Survey

Toro, W., Yang, M., Georgieva, M. V., Anderson, A., LaMarca, N. M., Patel, A. A., Akbarnejad, H., & Dabbous, O. H. (2023) · Advances in Therapy · doi:10.1007/s12325-023-02685-w · Cited by 7

Commentary: Current Status of Gene Therapy for Spinal Muscular Atrophy

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Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment

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Treatment of Adult Spinal Muscular Atrophy: Overview and Recent Developments

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AlphaScreen Identifies MSUT2 Inhibitors for Tauopathy-Targeting Therapeutic Discovery

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Repeat expansion disorders

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The efficacy of gene therapy with onasemnogene abeparvovec in spinal muscular atrophy in young patients

Fisenko, D. A., Kurenkov, A. L., Kuzenkova, L. M., Черников, В. В., Uvakina, E. V., Popovich, S. G., Ибрагимовна, Б. Б., Abdullaeva, L. М., Kurova, J. A., Adalimova, N. S., et al. (2025) · L O Badalyan Neurological Journal · doi:10.46563/2686-8997-2025-6-1-13-25 · Cited by 4

Economic evaluations of disease-modifying therapies for spinal muscular atrophy: a systematic literature review

Yousefi, M., Mehrabian, A., Brown, A., Butt, F., Donoghue, J., Parr, J., Patel, M., Grove, A., Parsons, J., & Auguste, P. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-04150-z · Cited by 4

Type-1 spinal muscular atrophy cohort before and after disease-modifying therapies

Alves, B. K. A. M. D. F., Araújo, A. P. D. Q. C., Nardes, F., & Ribeiro, M. G. (2024) · Arquivos de Neuro-Psiquiatria · doi:10.1055/s-0044-1791757 · Cited by 4

“Suddenly we have hope that there is a future” : two families’ narratives when a child with spinal muscular atrophy receives a new drug

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Intravenous Administration of an AAV9 Vector Ubiquitously Expressing C1orf194 Gene Improved CMT-Like Neuropathy in C1orf194-/- Mice

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Viral vectors in neurodegenerative diseases: immune responses and therapeutic applications

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Progress and challenges in intrathecal gene therapy for neurological disorders

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Twice-Weekly Outpatient Rehabilitation Intervention for Young Children With Spinal Muscular Atrophy Treated With Genetic-Based Therapies: Protocol for a Feasibility Study

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Cumulative motor index in spinal muscular atrophy after gene therapy: baseline predicts maximal recovery

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Parents’ advice to other parents of children with spinal muscular atrophy: Two nationwide follow-ups

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Real-world outcomes of spinal muscular atrophy treatment with onasemnogene abeparvovec in Croatia: a comprehensive case series and literature review

Lehman, I., Matošević, M., Lamot, L., & Bunoza, B. (2025) · Frontiers in Medicine · doi:10.3389/fmed.2025.1609072 · Cited by 3

Early Intervention and Speed-to-Effect in Spinal Muscular Atrophy Type 1 Following Onasemnogene Abeparvovec Gene Replacement Therapy: Results of aPost-Hoc Analysis of Pooled Clinical Study Data

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Fibro-adipogenic progenitor cells from murine SMA muscles are intrinsically adipogenic

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“The Times They Are a-Changin’.” In reply to El-Zaidy et al.: AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort

Servais, L. (2019) · Journal of Neuromuscular Diseases · doi:10.3233/jnd-199001 · Cited by 2

Rates of diagnostic genetic testing in a tertiary ocular genetics clinic

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Changes in electrophysiological findings of spinal muscular atrophy type I after the administration of nusinersen and onasemnogene abeparvovec: two case reports

Mizuno, T., Kanouchi, T., Tamura, Y., Hirata, K., Emoto, R., Suzuki, T., Kashimada, K., & Morio, T. (2023) · BMC Neurology · doi:10.1186/s12883-023-03420-2 · Cited by 2

Spinal Muscular Atrophy Types, Innovations in Diagnosis and Treatment

Tankişi, H., & Ünalp, A. (2023) · Journal of Dr Behcet Uz Children s Hospital · doi:10.4274/jbuch.galenos.2023.91568 · Cited by 2

Cell type–specific gene therapy confers protection against motor neuron disease caused by a TFG variant

Lettman, M. M., Mendina, C. A., Burkard, E., Alvin, J. R., Zhu, Y., Coon, J. J., & Audhya, A. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2410996121 · Cited by 2

Safety and tolerability of onasemnogene abeparvovec for patients with spinal muscular atrophy weighing ≤17 kg and ≤24 months old from OFELIA, a phase 4, open-label, multicenter, non-randomised, interventional study

Saute, J. A. M., Muntadas, J., Gurgel‐Giannetti, J., Monges, S., Aliberti, P., Mendonça, R. D. H., Alecu, I., Ritter, S., de Lana, J. M., Mumneh, N., et al. (2025) · The Lancet Regional Health - Americas · doi:10.1016/j.lana.2025.101193 · Cited by 2

Kezdeti tapasztalataink spinalis muscularis atrophiában szenvedő gyermekek intravénás génterápiájával

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Gene Therapy

Shahryari, A., Nazari, Z., Jazi, M. S., Hashemi-Shahraki, F., Wißmiller, K., Xu, W., Burtscher, I., & Lickert, H. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-820472-6.00213-9 · Cited by 2

Genetisch basierte Therapien bei spinaler Muskelatrophie

Hagenacker, T., Schara, U., & Kleinschnitz, C. (2022) · Der Nervenarzt · doi:10.1007/s00115-022-01295-1 · Cited by 2

Arzneimittel für neuartige Therapien – Perspektiven, Chancen, Herausforderungen

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All-in-one vectors for epigenetic CRISPR inhibition of DUX4-fl in facioscapulohumeral muscular dystrophy

Himeda, C. L., Jones, T. I., & Jones, P. L. (2025) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2025.101546 · Cited by 1

Recombinant AAV gene transfer: Emerging applications in immune modulation and cancer therapy

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Advances in the Potential Role and Mechanism of Fibroblasts in Spinal Muscular Atrophy

Chen, C., Zhang, J., Xue, C., Liu, D., & Li, S. (2025) · Cell Biochemistry and Function · doi:10.1002/cbf.70118 · Cited by 1

Experience of using onasemnogen abeparvovek in children with spinal muscular atrophy 5q with 2 or 3 copies of the SMN2 gene in a multidisciplinary center in Saint Petersburg

Shchugareva, L. M., Koroleva, V. D., & Васильевна, П. О. (2025) · Neuromuscular Diseases · doi:10.17650/2222-8721-2025-15-2-10-19 · Cited by 1

Alterations along the neuroendocrine axis of leptin homeostasis: white adipose tissue and hypothalamus in a severe SMA mouse model

Bünermann, I., Detering, N. T., Tapken, I., Kühn, D., Jahn, K., Burkert, A., Naczinsky, S., Hensel, N., Schüning, T., Dittrich‐Breiholz, O., et al. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddaf172 · Cited by 1

Onasemnogene Abeparvovec in Early-Onset Spinal Muscular Atrophy: An Indian Experience

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Nusinersen: the antisense oligonucleotide at the forefront of spinal muscular atrophy treatment

Singh, N. N., Ottesen, E. W., & Singh, R. N. (2026) · RNA Biology · doi:10.1080/15476286.2026.2675858 · Cited by 1

Updates in clinical data for FDA-approved disease-modifying therapies for spinal muscular atrophy

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Clinical, multicenter treatment of patients with spinal muscular atrophy - the experience in Poland

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Enchanted recovery. Preoperative preparation and prehabilitation.

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Zdravljenje prvih bolnikov z gensko nadomestno terapijo v Sloveniji; otroka s spinalno mišično atrofijo, ki sta se zdravila z zdravilom onasemnogene abeparvovek

Vrščaj, E., Golli, T., Loboda, T., Piskar, A., Homan, M., & Osredkar, D. (2024) · Slovenian Medical Journal · doi:10.6016/zdravvestn.3478

Epilepsy Genomics

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Gene therapeutic strategies and relevant clinical trials in neuromuscular disorder in China

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Spinal muscular atrophy: an update for managed care pharmacists

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Spinal Muscular Atrophy (SMA)

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Safety and Efficacy of Vesemnogene Lantuparvovec, an AAV-Based Gene Therapy in Young Children Under 24 Months with Spinal Muscular Atrophy in Low- and Middle-Income Countries. Second Interim Report (August 2025)Preprint

Ngu, L. H., Mo, Q., Li, S., Toh, T.-H., Lee, J. N., Lim, K. C., Tehuteru, E. S., Lestari, R., Sanguansermsri, C., Abueita, H., et al. (2025) · medRxiv · doi:10.1101/2025.04.13.25325764 · Cited by 1

Childhood Neuromuscular Disorders

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Spinal Muscular Atrophy: The High Costs of Innovative Therapies for Rare DiseasesPreprint

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Langzeitergebnisse von operativ versorgten Wirbelsäulendeformitäten bei Kindern mit Spinaler Muskelatrophie

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Gentherapie bei spinaler Muskelatrophie -ein Update

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Structure and Function of Microbial Metal-Reduction Proteins

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Suplemento do IX Congresso SAMMG

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Multifarious plant compounds and their protective efficacy in the treatment of spinal muscular atrophy

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Cribado neonatal en atrofia muscular espinal: un desafío para cambiar la historia natural

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USE OF SMALL MOLECULES IN SPINAL MUSCULAR ATROPHY TYPE 3: A CASE REPORT

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Gene Therapy for Cancer

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Dépistage génétique néonatal : à propos du programme pilote sur l’amyotrophie spinale (DEPISMA)

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Genetic Testing in Neuromuscular Disease

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Trend in parameters of motor nerve conduction against the background of gene therapy in early age patients with spinal muscular atrophy

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A systemically delivered AAV-CFTR gene therapy for cystic fibrosisPreprint

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Evolución de las Terapias para Enfermedades Raras y Huérfanas

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Onasemnogene abeparvovec gene replacement therapy for spinal muscular atrophy in children: a Moscow experience

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Prenatal Diagnosis of Spinal Muscular Atrophy Facilitates Ultrarapid Treatment After Birth

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Results of a two-year comprehensive follow-up in patients with spinal muscular atrophy who received gene therapy with onasemnogen abeparvovec at the presymptomatic stage of the disease

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