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Human Molecular Genetics|March 28, 2008
Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactinErica S Chevalier-Larsen, Karen E Wallace, Cynthia R Pennise, et al.
Human Molecular Genetics|June 7, 2008
An african-specific functional polymorphism in KCNMB1 shows sex-specific association with asthma severityMax A Seibold, Bin Wang, Celeste Eng, et al.
Human Molecular Genetics|April 30, 2025
Human and pathogen-encoded circular RNAs in viral infections: insights into functions and therapeutic opportunitiesNoah L Mueller, Adela Dujsikova, Amrita Singh, et al.
Human Molecular Genetics|April 29, 2025
Loss of Nup160 dysregulates Cdc42 in the podocytes of podocyte-specific Nup160 knockout miceDeying Liu, Jiaxin Li, Chan Xu, et al.
Human Molecular Genetics|April 23, 2025
Fetal growth disorders detection during first trimester gestation through comprehensive maternal circulating DNA profilingRene Cortese, Kylie Cataldo, Justin Hummel, et al.
Human Molecular Genetics|April 23, 2025
ap4b1 -/- zebrafish demonstrate morphological and motor abnormalitiesHelena Rosengarten, Angelica D'Amore, Hyo-Min Kim, et al.
Human Molecular Genetics|May 6, 2025
UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expressionAna Clara Venier, Sofía Savy, Gerardo Carro, et al.
Human Molecular Genetics|March 29, 2025
Knockdown of TSP-4 alleviates MI/RI-induced myocardial injury and improves brain inflammation by enhancing blood-brain barrier stabilityJiahao Feng, Yanfeng Lu, Haoyu Wu, et al.
Human Molecular Genetics|June 16, 2025
Calcium homeostasis modulator 2 aggravates α-synuclein-induced neurotoxicity in Parkinson's disease by activating PARP-1 depended ParthanatosQi Pan, Huanjun Xu, Zongyu Xiao, et al.
Human Molecular Genetics|May 14, 2025
Neuromuscular junction transcriptome analysis of spinal and bulbar muscular atrophy mice implicates sarcomere gene expression and calcium flux dysregulation in disease pathogenesisAnastasia Gromova, Byeonggu Cha, Nhat Nguyen, et al.
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