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.
201 to 220 of 2,709
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Diagnostic delay in late-onset Pompe disease among Chinese patients: A retrospective study. | JIMD Rep | 2024 | 38186848 | PubTator, text mining | PubMed |
| QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease. | Sci Rep | 2024 | 38182646 | PubTator, text mining | PubMed |
| Genetic prediction of antihyperglycemic drug targets and risk of epilepsy: a mendelian randomisation study. | BMC Pharmacol Toxicol | 2024 | 38167102 | PubTator, text mining | PubMed |
| Clinical stage and plasma neurofilament concentration in adults with Friedreich ataxia. | Heliyon | 2024 | 38163227 | PubTator, text mining | PubMed |
| Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. | EBioMedicine | 2024 | 38150853 | PubTator, text mining | PubMed |
Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the Frataxin (FXN) gene. | Stem Cell Res | 2024 | 38141359 | PubTator, text mining | PubMed |
| Newborn Screening of 6 Lysosomal Storage Disorders by Tandem Mass Spectrometry. | Clin Pediatr (Phila) | 2024 | 38135922 | PubTator, text mining | PubMed |
| Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population. | J Hum Genet | 2024 | 38135707 | PubTator, text mining | PubMed |
| Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort. | J Neuromuscul Dis | 2024 | 38043017 | PubTator, text mining | PubMed |
| The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease. | J Neurol | 2024 | 37982853 | PubTator, text mining | PubMed |
| Muscle-specific, liver-detargeted adeno-associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa-/- mice. | J Inherit Metab Dis | 2024 | 37204237 | PubTator, text mining | PubMed |
| An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion. | Front Pediatr | 2023 | 38274468 | PubTator, text mining | PubMed |
Loss of filamentous actin, tight junction protein expression, and paracellular barrier integrity in frataxin-deficient human brain microvascular endothelial cells-implications for blood-brain barrier physiology in Friedreich's ataxia. | Front Mol Biosci | 2023 | 38274097 | PubTator, text mining | PubMed |
| Biomolecules of Muscle Fatigue in Metabolic Myopathies. | Biomolecules | 2023 | 38254650 | PubTator, text mining | PubMed |
| Immunophenotype associated with high sustained antibody titers against enzyme replacement therapy in infantile-onset Pompe disease. | Front Immunol | 2023 | 38250073 | PubTator, text mining | PubMed |
| The Impact of Integration of a Genetic Clinic Into a Pediatric Cardiac Unit. | Cureus | 2023 | 38249165 | PubTator, text mining | PubMed |
| Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia. | Metabolites | 2023 | 38248833 | PubTator, text mining | PubMed |
| Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy. | Int J Neonatal Screen | 2023 | 38248631 | PubTator, text mining | PubMed |
| Pompe disease in China: clinical and molecular characteristics. | Front Cardiovasc Med | 2023 | 38162137 | PubTator, text mining | PubMed |
| Possible Participation of Adenine Nucleotide Translocase ANT1 in the Cytotoxic Action of Progestins, Glucocorticoids, and Diclofenac on Tumor Cells. | Pharmaceutics | 2023 | 38140127 | 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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