Kayoko Saito

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Richard S. Finkel, Eugenio Mercuri, Basil T. Darras et al. · New England Journal of Medicine · 2017 · 2.2K citations · Full text

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

Eugenio Mercuri, Basil T. Darras, Claudia A. Chiriboga et al. · New England Journal of Medicine · 2018 · 1.4K citations

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

Kazuhiro Kobayashi, Yutaka Nakahori, Masashi Miyake et al. · Nature · 1998 · 801 citations

Degenerative Spine, Degenerative Disease, Orthopaedic Surgery +2

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

Hidetoshi Date, Osamu Onodera, Hajime Tanaka et al. · Nature Genetics · 2001 · 382 citations

New Hit, Mendelian Disorder, Ophthalmology +10

Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial

Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni et al. · Nature Medicine · 2022 · 273 citations · Full text