Hirofumi Komaki

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Jordi Díaz‐Manera, Priya S. Kishnani, Hani Kushlaf et al. · The Lancet Neurology · 2021 · 184 citations · Full text

Veterinary Medicine, Internal Medicine, Pharmacotherapy +3

AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial

Jerry R. Mendell, Francesco Muntoni, Craig M. McDonald et al. · Nature Medicine · 2024 · 157 citations · Full text

Medicine, Molecular Genetics, Molecular Medicine +15

Systemic administration of the antisense oligonucleotide NS-065/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy

Hirofumi Komaki, Takashi Saito, S. Masuda et al. · Science Translational Medicine · 2018 · 153 citations

Pharmacy, Clinical Pharmacokinetics, Pharmacotherapy +14

A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy

Nathalie Goemans, Eugenio Mercuri, Hirofumi Komaki et al. · Neuromuscular Disorders · 2017 · 128 citations · Full text

Medicine, Molecular Medicine, Neuromuscular Disorders +7

CO2-sensitive tRNA modification associated with human mitochondrial disease

Huan Lin, Kenjyo Miyauchi, Tai Harada et al. · Nature Communications · 2018 · 121 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17