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.
81 to 100 of 2,709
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| When the Diaphragm Fails: Visual Hallucinations Due to Isolated Respiratory Muscle Weakness as a First Manifestation of Late-Onset Pompe Disease. | Eur J Case Rep Intern Med | 2025 | 41229640 | PubTator, text mining | PubMed |
| In Thickness and in Health: Delayed-Onset Pompe Disease Resembling Hypertrophic Cardiomyopathy. | Cureus | 2025 | 41111870 | PubTator, text mining | PubMed |
| Molecular characterization of a novel synonymous variant in a Mexican patient with Pompe disease. | Mol Genet Metab Rep | 2025 | 41078577 | PubTator, text mining | PubMed |
| Oxidative Stress and Antioxidant Therapies in Friedreich's Ataxia. | Cells | 2025 | 41002373 | PubTator, text mining | PubMed |
| Design and synthesis of polyhydroxylated azabicyclo[3.3.1]nonane as selective lysosomal α-glucosidase stabilizers enhancing cellular uptake. | Bioorg Chem | 2025 | 40997505 | PubTator, text mining | PubMed |
| Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population. | Int J Neonatal Screen | 2025 | 40981304 | PubTator, text mining | PubMed |
| Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort. | J Neurol | 2025 | 40974444 | PubTator, text mining | PubMed |
| Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population. | Mol Genet Genomic Med | 2025 | 40970488 | PubTator, text mining | PubMed |
| Correction of Disease Phenotype in Pompe Disease Knockout Mice Following Cationic Lipid-GL-67-Mediated Gene Therapy. | DNA Cell Biol Rep | 2025 | 40969949 | PubTator, text mining | PubMed |
| Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience. | Future Sci OA | 2025 | 40952111 | PubTator, text mining | PubMed |
| C-Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease. | J Med Chem | 2025 | 40951993 | PubTator, text mining | PubMed |
| Therapeutic acute intermittent hypoxia modestly improves breathing in Pompe disease. | Respir Physiol Neurobiol | 2025 | 40930472 | PubTator, text mining | PubMed |
| A myotropic AAV vector combined with skeletal muscle cis-regulatory elements improve glycogen clearance in mouse models of Pompe disease. | Mol Ther Methods Clin Dev | 2025 | 40927766 | PubTator, text mining | PubMed |
| Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program. | Nat Med | 2025 | 40913169 | PubTator, text mining | PubMed |
| Generation and characterization of three human induced pluripotent stem cell lines from patients with glycogen storage disease type II. | Stem Cell Res | 2025 | 40907111 | PubTator, text mining | PubMed |
| GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications. | Mov Disord | 2025 | 40879304 | PubTator, text mining | PubMed |
| Clinical and Genetic Characterization of the Largest Cohort of Patients With D3 Limb-Girdle Muscular Dystrophy in an Isolated Uruguayan Population. | Eur J Neurol | 2025 | 40878969 | PubTator, text mining | PubMed |
| Integrating data augmentation and BERT-based deep learning for predicting alpha-glucosidase inhibitors derived from Black Cohosh. | Sci Rep | 2025 | 40866460 | PubTator, text mining | PubMed |
| Occurrence of fatal vertebrobasilar dolichoectasia after occlusion of unilateral internal carotid artery. | BMC Neurol | 2025 | 40855428 | PubTator, text mining | PubMed |
| Molecular profiles of the great obstetrical syndromes reveal common features and dynamic changes in early pregnancy. | Commun Med (Lond) | 2025 | 40855186 | 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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