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Human Genome Variation|February 28, 2025
In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophyTakashi Matsukawa, Atsushi Sudo, Toshiyuki Kakumoto, et al.Journal of Cardiology Cases|October 3, 2022
Asymptomatic myocardial infarction in a patient with myotonic dystrophy type 1Yuka Seki, Takanobu Yamada, Arihiro Kiyosue, et al.The Journal of Biological Chemistry|January 25, 2012
Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycanAtsushi Kuga, Motoi Kanagawa, Atsushi Sudo, et al.Journal of Neurology|December 12, 2024
Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosisSo Okubo, Hiroya Naruse, Hiroyuki Ishiura, et al.Annals of Neurology|November 20, 2025
A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift VariantHiroya Naruse, Jun Mitsui, Akatsuki Kubota, et al.Pageof 3