Tomoko Lee

Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kristy Rose et al. · The Lancet Neurology · 2022 · 96 citations · Full text

Type 1, Firefish Part 2, Rehabilitation +6

Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients

Tomoko Lee, Yasuhiro Takeshima, Noriko Kusunoki et al. · Journal of Human Genetics · 2013 · 64 citations · Full text

Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28

Thi Hoai Thu Tran, Zhujun Zhang, Mariko Yagi et al. · Journal of Human Genetics · 2012 · 54 citations · Full text

Molecular Characterization, Mendelian Disorder, Chromosomal Inversion +8

Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan

Jun Kido, Shirou Matsumoto, Johannes Häberle et al. · Journal of Inherited Metabolic Disease · 2021 · 42 citations

A prostaglandin D2 metabolite is elevated in the urine of Duchenne muscular dystrophy patients and increases further from 8years old

Taku Nakagawa, Atsuko Takeuchi, Ryohei Kakiuchi et al. · Clinica Chimica Acta · 2013 · 38 citations

Adrenal Gland, Urology, Human Growth +9