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Nature Metabolism|May 8, 2024
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial diseaseAndrew Y Sung, Rachel M Guerra, Laura H Steenberge, et al.Orphanet Journal of Rare Diseases|July 24, 2025
Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophyTakanori Onuki, Makiko Tajika, Yohei Sugiyama, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|November 26, 2013
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndromeTaro Yamazaki, Kei Murayama, Alison G Compton, et al.Journal of Medical Genetics|April 13, 2023
Strategic validation of variants of uncertain significance in ECHS1 genetic testingYoshihito Kishita, Ayumu Sugiura, Takanori Onuki, et al.Journal of Inherited Metabolic Disease|January 23, 2020
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosisErika Ogawa, Takuya Fushimi, Minako Ogawa-Tominaga, et al.The Journal of Pediatrics|December 19, 2017
Barth Syndrome: Different Approaches to DiagnosisAtsuko Imai-Okazaki, Yoshihito Kishita, Masakazu Kohda, et al.Scientific Reports|February 12, 2021
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in JapanNana Akiyama, Masaru Shimura, Taro Yamazaki, et al.Molecular Genetics and Metabolism Reports|September 5, 2022
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletionTomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, et al.Journal of Human Genetics|October 15, 2021
BCS1L mutations produce Fanconi syndrome with developmental disabilityKojima-Ishii Kanako, Nana Sakakibara, Kei Murayama, et al.NPJ Genomic Medicine|October 25, 2024
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathyKokoro Ozaki, Yukiko Yatsuka, Yoshinobu Oyazato, et al.Pageof 21