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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.

TitleJournalYearPMIDFound bySource
The utilization of multiplex PCR with fragment analysis for carrier screening of spinal muscular atrophy.Clin Chim Acta202742551705PubTator, text miningPubMed
Clinical Practice of Single-Molecule Real-Time Sequencing in the Diagnosis of Spinal Muscular Atrophy.Mol Genet Genomic Med202642827317PubTator, text miningPubMed
Muscle biopsy to end a diagnostic odyssey in a genetically complex case of spinal muscular atrophy type 3: the importance of "old school" in the next-generation sequencing era.Eur J Paediatr Neurol202642826493PubTator, text miningPubMed
Spinal Muscular Atrophy.Continuum (Minneap Minn)202642825550PubTator, text miningPubMed
Unbiased bioinformatic and clinical analysis identifies glial fibrillary acidic protein as a potential biomarker in spinal muscular atrophy.Brain Commun202642798874PubTator, text miningPubMed
Intensive Family-Centered Rehabilitation and Motor Outcomes in a Child with Global Developmental Delay: A Case Report.Children (Basel)202642794238PubTator, text miningPubMed
Comparative Analysis of SMN2 Splicing Activity and Protein Production Following In Vitro Treatment with the Generic Risdiplam Drug Vapromin® and the Reference Drug Evrysdi®.Biomedicines202642792736PubTator, text miningPubMed
Pharmacovigilance and network toxicology analysis of risdiplam-associated adverse events in pediatric patients with spinal muscular atrophy.Naunyn Schmiedebergs Arch Pharmacol202642789045PubTator, text miningPubMed
Spinal muscular atrophy as a blueprint for precision therapy in neuromuscular disease.Expert Rev Mol Med202642776081PubTator, text miningPubMed
Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complex.Front Genet202642764968PubTator, text miningPubMed
Consensus on gene therapy for spinal muscular atrophy in Taiwan.J Formos Med Assoc202642749594PubTator, text miningPubMed
Molecular diagnosis of spinal muscular atrophy: Experience in a pediatric hospital in Argentina.Arch Argent Pediatr202642735235PubTator, text miningPubMed
The survival motor neuron protein: structure, functions, stability, and therapeutic targeting.Front Cell Neurosci202642682472PubTator, text miningPubMed
Postural Torticollis and Early-Onset Scoliosis in Infants With SMA Identified Through Newborn Screening: Single Institution Experience.Muscle Nerve202642666047PubTator, text miningPubMed
Case Report: Ultra-early nusinersen initiation with pre-procedural spinal ultrasound-assisted intrathecal access in a symptomatic neonate with spinal muscular atrophy.Front Pediatr202642643526PubTator, text miningPubMed
Real-world pharmacoclinical implementation of risdiplam under a national SMA protocol: A hospital pharmacy registry-based case series.Pak J Pharm Sci202642631466PubTator, text miningPubMed
From Genes to Function: Clinical Experience with the Effectiveness and Safety of Risdiplam and Nusinersen in Spinal Muscular Atrophy.Iran J Child Neurol202642626503PubTator, text miningPubMed
Genetic susceptibility to thrombotic microangiopathy in a 10-month-old patient with SMA type 1: a caveat for gene therapy eligibility.Neuromuscul Disord202642612481PubTator, text miningPubMed
Spinal muscular atrophy with five SMN2 copies: Phenotypic heterogeneity and implications for newborn screening and treatment decisions.Front Neurol202642597359PubTator, text miningPubMed
Therapeutic strategies for spinal muscular atrophy: the history and future perspective.Front Hum Neurosci202642582471PubTator, text miningPubMed

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.

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