Mariko Y. Momoi

A point mutation in the mitochondrial tRNALeu(UUR) gene in melas (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)

Yoko Kobayashi, Mariko Y. Momoi, Kaoru Tominaga et al. · Biochemical and Biophysical Research Communications · 1990 · 371 citations

Mitochondrial Myopathy, Mitochondrial Function, Genetic Disorder +9

Ultrasonic vocalization impairment of Foxp2 (R552H) knockin mice related to speech-language disorder and abnormality of Purkinje cells

Eriko Fujita, Yuko Tanabe, Akira Shiota et al. · Proceedings of the National Academy of Sciences · 2008 · 240 citations · Full text

Genetics, Speech Learning, Speech Motor Control +18

A member of Forkhead family transcription factor, FKHRL1, is one of the downstream molecules of phosphatidylinositol 3-kinase-Akt activation pathway in erythropoietin signal transduction

Yoshifumi Kashii, Mie Uchida, Keita Kirito et al. · Blood · 2000 · 153 citations

Mutations in the gene encoding CADM1 are associated with autism spectrum disorder

Yu Zhiling, Eriko Fujita, Yuko Tanabe et al. · Biochemical and Biophysical Research Communications · 2008 · 97 citations

Neurodevelopmental Disorders, Syndromic Autism, Genetic Disorder +8

Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).

Yukio Kobayashi, Mariko Y. Momoi, Kaoru Tominaga et al. · PubMed · 1991 · 94 citations