Gene · 6607
Papers3,510
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
21 to 40 of 3,510
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey. | Eur J Paediatr Neurol | 2026 | 42580234 | PubTator, text mining | PubMed |
| Survival Motor Neuron Protein Requirement-Supply Mismatch in Spinal Muscular Atrophy: A Conceptual Framework. | Adv Ther | 2026 | 42573950 | PubTator, text mining | PubMed |
| FOCUS: A Dual-Mismatch crRNA Strategy Unlocks High-Fidelity One-Step SNV Detection with Cas12a. | ACS Sens | 2026 | 42571623 | PubTator, text mining | PubMed |
| Compound muscle action potential amplitudes in newborn screen positive spinal muscular atrophy. | Clin Neurophysiol | 2026 | 42541962 | PubTator, text mining | PubMed |
| Motor function score changes in severe 5q spinal muscular atrophy during risdiplam treatment: an observational longitudinal nationwide cohort study. | EClinicalMedicine | 2026 | 42534524 | PubTator, text mining | PubMed |
| Retrospective analysis of spinal muscular atrophy in tunisian population: phenotypic-genotypic associations and considerations for therapeutic advancement. | Neurogenetics | 2026 | 42525310 | PubTator, text mining | PubMed |
| Expanding 5q-SMA Newborn Screening in Latin America: A Brazilian Model for National and Regional Implementation. | Int J Neonatal Screen | 2026 | 42496455 | PubTator, text mining | PubMed |
| Simultaneous Detection of SMN1, SMN2, NAIP, H4F5, and GTF2H2 Copy Numbers and SMN1 Loss-of-Function Variants for SMA by MALDI-TOF Mass Spectrometry. | J Mol Diagn | 2026 | 42480849 | PubTator, text mining | PubMed |
| Real-world 12-month outcomes of Risdiplam in spinal muscular atrophy types 2 and 3: A Brazilian cohort. | Clinics (Sao Paulo) | 2026 | 42470763 | PubTator, text mining | PubMed |
| Nusinersen for type-III spinal muscular atrophy: a 12-month retrospective study in a Brazilian cohort. | Arq Neuropsiquiatr | 2026 | 42468916 | PubTator, text mining | PubMed |
| Spinal muscular atrophy type 2 with severe kyphoscoliosis: a case report. | J Med Case Rep | 2026 | 42464403 | PubTator, text mining | PubMed |
| Correction: Lamadrid-González et al. SMN2 Copy Number Association with Spinal Muscular Atrophy Severity: Insights from Colombian Patients. J. Clin. Med. 2024, 13, 6402. | J Clin Med | 2026 | 42452780 | PubTator, text mining | PubMed |
| Antisense oligonucleotides treatment uncovers differences in the modulation of dysregulated intracellular pathways in Spinal Muscular Atrophy motoneurons. | Cell Death Dis | 2026 | 42443163 | PubTator, text mining | PubMed |
| Amplification refractory mutation system polymerase chain reaction-capillary electrophoresis's applicability for newborn screening in dried blood spots of spinal muscular atrophy. | J Formos Med Assoc | 2026 | 42394438 | PubTator, text mining | PubMed |
| Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals. | Eur J Hum Genet | 2026 | 42393335 | PubTator, text mining | PubMed |
| [Carrier screening and prenatal diagnosis for Spinal muscular atrophy among 8 182 individuals of reproductive age from Zhangzhou region]. | Zhonghua Yi Xue Yi Chuan Xue Za Zhi | 2026 | 42386659 | PubTator, text mining | PubMed |
| Efficacy and safety of risdiplam in patients with type 1 spinal muscular atrophy: a 3-year open-label extension of the two-part, phase 2 FIREFISH trial. | Lancet Child Adolesc Health | 2026 | 42385757 | PubTator, text mining | PubMed |
| Longitudinal motor function and biomarker correlates in treated adult spinal muscular atrophy: a single-center cohort study. | Front Neurol | 2026 | 42369363 | PubTator, text mining | PubMed |
| Optimizing In Vitro Efficacy Assessment of the Antisense Oligonucleotide Nusinersen in Human Cellular Models. | Pharmaceutics | 2026 | 42357268 | PubTator, text mining | PubMed |
| Longitudinal Transcriptomic Analysis Reveals Systemic Effects of Risdiplam in Adults with Spinal Muscular Atrophy. | Brain Sci | 2026 | 42352652 | PubTator, text mining | PubMed |
gene-search-2026-11-11-0.2.0
Sources 12
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
- GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
- HGNCCC0
- NCBI GenePublic domain (US government)
- NIH's project files and grant-paper linksPublic domain
- Open TargetsCC0 1.0
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
- GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
- HGNCCC0: https://www.genenames.org/about/license/
- NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
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