Jun Takayama
Sendai, Japan
Last Updated: 09/26/2026
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Found 56 publications
Inherited Glycosylphosphatidylinositol Deficiency Caused by PIGW Variants With Recurrent Infections and Complement Abnormalities.
Journal: American journal of medical genetics. Part A
Published: February 17, 2026
A Japanese Case of Infantile Liver Failure Syndrome Type 2 With Novel NBAS Variants.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: January 27, 2026
Relative Efficacy of Self-Managed Caffeine Supplementation in Maintaining Daily Activity in a Patient with ADCY5-Related Dyskinesia: A Case Report.
Journal: Case reports in neurology
Published: January 07, 2026
Polyamine metabolism as a regulator of cellular and organismal aging.
Journal: Amino acids
Published: November 29, 2025
Co-Occurrence of SCN9A and PRRT2 Variants in a Patient With Paroxysmal Extreme Pain Disorder, Contradictory Analgesia, and Intractable Paroxysmal Non-Kinesigenic Dyskinesia.
Journal: Case reports in medicine
Published: November 25, 2025
From N-of-1 to versatility in propionic acidemia: Antisense oligonucleotide-mediated skipping of a constitutive PCCA pseudoexon.
Journal: Molecular therapy. Nucleic acids
Published: October 17, 2025
A ferulic acid derivative FAD012 protects brain microvascular endothelial cells from H2O2-induced ferroptosis via NRF2 activation.
Journal: European journal of pharmacology
Published: October 16, 2025
Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor.
Journal: American journal of medical genetics. Part A
Published: September 27, 2025
Progressive Cerebellar Atrophy Associated with a KDM5C Variant.
Journal: JMA journal
Published: September 10, 2025
Crosstalk mediators implicated in the Stevens-Johnson Syndrome through gene regulatory network analysis.
Journal: BMC medical genomics
Published: September 05, 2025
FAD012, a Ferulic Acid Derivative, Preserves Cerebral Blood Flow and Blood-Brain Barrier Integrity in the Rat Photothrombotic Stroke Model.
Journal: Biomedicines
Published: August 31, 2025
De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings.
Journal: Journal of human genetics
Published: August 25, 2025
Last Updated: 09/26/2026