Gene · 2548
Papers2,709
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
61 to 80 of 2,709
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Neutral sp2-iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseases. | Eur J Med Chem | 2026 | 41420889 | PubTator, text mining | PubMed |
| "Subthreshold" Expansions in Individuals With Otherwise-Typical Clinicoradiological Features of GAA-FGF14-Related Cerebellar Ataxia (SCA27B). | J Mov Disord | 2026 | 41367183 | PubTator, text mining | PubMed |
| Genotypic and phenotypic characterization of critical pediatric cardiomyopathy: A 20-patient cohort study. | Clin Chim Acta | 2026 | 41270882 | PubTator, text mining | PubMed |
| Development of an AAV-based gene therapy for the ocular phenotype of Friedreich's ataxia. | Mol Ther | 2026 | 41137390 | PubTator, text mining | PubMed |
| Pompe Disease: A Review of Diagnosis, Molecular Genetics, and Treatment Management. | Curr Cardiol Rev | 2026 | 40947720 | PubTator, text mining | PubMed |
| Marked Improvements in Airway Abnormalities and Multifaceted Outcomes After 2 Years Switching to Avalglucosidase Alfa: Evaluation of A 19-Year-Old Male Diagnosed With Late-Onset Pompe Disease. | Am J Med Genet A | 2026 | 40913330 | PubTator, text mining | PubMed |
| Unexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic Testing. | Neurohospitalist | 2026 | 40487294 | PubTator, text mining | PubMed |
| Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants. | Front Mol Biosci | 2025 | 41695778 | PubTator, text mining | PubMed |
| Identification of miRNAs Associated with Infantile-Onset Pompe Disease. | Mol Syndromol | 2025 | 41552667 | PubTator, text mining | PubMed |
| Atrioventricular block in the newborn period. | HeartRhythm Case Rep | 2025 | 41550238 | PubTator, text mining | PubMed |
| Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report. | Mol Genet Metab Rep | 2025 | 41477588 | PubTator, text mining | PubMed |
| The Double-Edged Sword Effect of Generative AI Adoption on Students' Sustainable Entrepreneurship Intentions. | Behav Sci (Basel) | 2025 | 41464048 | PubTator, text mining | PubMed |
| Enzyme replacement therapy during pregnancy and breastfeeding in late-onset Pompe disease. | Int Breastfeed J | 2025 | 41462273 | PubTator, text mining | PubMed |
| Discovering bioactive pharmaceuticals from natural products for type 2 diabetes mellitus using network pharmacology, molecular docking, and molecular dynamics. | Sci Rep | 2025 | 41350307 | PubTator, text mining | PubMed |
| Maltose metabolism in serum free CHO culture involves lysosomal acid α-glucosidase. | Sci Rep | 2025 | 41339735 | PubTator, text mining | PubMed |
| Transcriptomic signatures in Gaucher disease subtypes: A systems biology perspective. | Mol Genet Metab Rep | 2025 | 41323100 | PubTator, text mining | PubMed |
| Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm. | Orphanet J Rare Dis | 2025 | 41316280 | PubTator, text mining | PubMed |
| Multi-Center National Study of Genotype-Phenotype Correlation and Clinical Characteristics in Children and Young Adults with Friedreich's Ataxia from Serbia. | Biomedicines | 2025 | 41301739 | PubTator, text mining | PubMed |
| Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease. | JIMD Rep | 2025 | 41293654 | PubTator, text mining | PubMed |
| Resting-State EEG Analysis Characterizes the Signature of CACNA1A-and GAA-FGF14-Related Channelopathies. | Cerebellum | 2025 | 41240219 | 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
Read this list from software.
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GET https://conductscience.org/api/genes/v1/2548/papers?page=4