Mariko Taniguchi‐Ikeda

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

Mariko Taniguchi‐Ikeda, Kazuhiro Kobayashi, Motoi Kanagawa et al. · Nature · 2011 · 185 citations

Pathogenic Exon-trapping, Fukuyama Muscular Dystrophy, Medicine +7

Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits

Hiromi Ohtsubo, Taro Okada, Kandai Nozu et al. · Pediatric Nephrology · 2016 · 54 citations

Glomerular Disease, Glomerulonephritis, Fibrosis +8

Biallelic variants in <i>LIG3</i> cause a novel mitochondrial neurogastrointestinal encephalomyopathy

Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris et al. · Brain · 2021 · 39 citations · Full text

De novo variants in <i>RHOBTB2</i> , an atypical Rho GTPase gene, cause epileptic encephalopathy

Hazrat Belal, Mitsuko Nakashima, Hiroshi Matsumoto et al. · Human Mutation · 2018 · 34 citations

Genetics, Neurochemical Biomarkers, Disease Gene Identification +18

Extremely preterm infants small for gestational age are at risk for motor impairment at 3years corrected age

Takeshi Kato, Tsurue Mandai, Sota Iwatani et al. · Brain and Development · 2015 · 30 citations

Neonatology, Motor Impairment, Preterm Labor +12