Katsuo Sugita

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

Brian T. Wilson, Zornitza Stark, Ruth E. Sutton et al. · Genetics in Medicine · 2015 · 172 citations · Full text

Life Sciences, Genetics, Pediatrics +16

MR evaluation of tuberous sclerosis: increased sensitivity with fluid-attenuated inversion recovery and relation to severity of seizures and mental retardation.

Jun‐ichi Takanashi, Katsuo Sugita, Katsunori Fujii et al. · PubMed · 1995 · 87 citations · Full text

Medicine, Neurology, Radiology +17

Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma

Mamiko Endo, Katsunori Fujii, Katsuo Sugita et al. · American Journal of Medical Genetics Part A · 2012 · 85 citations

Medicine, Dermatology, Oncology +12

D-2-Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?

Marjo S. van der Knaap, C. Jakobs, Georg F. Hoffmann et al. · Annals of Neurology · 1999 · 80 citations

Medicine, Neurology, Pediatrics +13

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

Nadège Calmels, Elena Botta, Nan Jia et al. · Journal of Medical Genetics · 2018 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17