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Annals of Neurology|July 12, 2002
A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletionsHirofumi Komaki, Toshiyuki Fukazawa, Hideki Houzen, et al.Human Mutation|November 14, 2014
ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndromeChika Sakai, Seiji Yamaguchi, Masayuki Sasaki, et al.Journal of Biochemistry|September 11, 2003
Direct evidence for two distinct forms of the flavoprotein subunit of human mitochondrial complex II (succinate-ubiquinone reductase)Eriko Tomitsuka, Hiroko Hirawake, Yu-ichi Goto, et al.Brain Research|December 15, 2010
Fewer GABAergic interneurons, heightened anxiety and decreased high-frequency electroencephalogram components in Bronx waltzer mice, a model of hereditary deafnessYoshiki Matsuda, Yuki Inoue, Hitomi Izumi, et al.Journal of Epidemiology|April 28, 2021
Estimation of the Number of Patients With Mitochondrial Diseases: A Descriptive Study Using a Nationwide Database in JapanKoki Ibayashi, Yoshihisa Fujino, Masakazu Mimaki, et al.Molecular Biology of the Cell|March 25, 2016
Reactive oxygen species stimulate mitochondrial allele segregation toward homoplasmy in human cellsFeng Ling, Rong Niu, Hideyuki Hatakeyama, et al.European Journal of Medical Genetics|February 8, 2022
A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairmentKenshiro Tabata, Akihiko Ishiyama, Yoko Nakamura, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 6, 2009
The P86L common allele of CALHM1 does not influence risk for Alzheimer disease in Japanese cohortsKen Inoue, Noriko Tanaka, Fumio Yamashita, et al.Journal of the Neurological Sciences|December 29, 2005
Leber's hereditary optic neuropathy with dystonia in a Japanese familyMasaki Watanabe, Shuji Mita, Tomohiro Takita, et al.Journal of Human Genetics|April 28, 2006
Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegiaTesseki Kin, Kazuma Sugie, Makito Hirano, et al.Pageof 20