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Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|April 7, 2007
Ocular motor disorders in mitochondrial encephalopathy with lactic acid and stroke-like episodes with the 3271 (T-C) point mutation in mitochondrial DNAYasuhiro Shinmei, Manabu Kase, Yasuo Suzuki, et al.Journal of Clinical Ultrasound : JCU|August 4, 2011
A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imagingShunsuke Tamaru, Akihiko Kikuchi, Kimiyo Takagi, et al.Journal of Cell Science|November 3, 2005
MIDAS/GPP34, a nuclear gene product, regulates total mitochondrial mass in response to mitochondrial dysfunctionNaomi Nakashima-Kamimura, Sadamitsu Asoh, Yoshitomo Ishibashi, et al.Muscle & Nerve|July 22, 2008
Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytesGenri Kawahara, Megumu Ogawa, Mari Okada, et al.Journal of Human Genetics|March 27, 2010
Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardationShozo Honda, Koji O Orii, Junya Kobayashi, et al.Mitochondrion|October 16, 2012
Heteroplasmic m.1624C>T mutation of the mitochondrial tRNA(Val) gene in a proband and his mother with repeated consciousness disturbancesYoko Sangatsuda, Masayuki Nakamura, Akiyuki Tomiyasu, et al.Biochimica Et Biophysica Acta|July 21, 2009
Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiencyHirofumi Komaki, Yutaka Nishigaki, Noriyuki Fuku, et al.American Journal of Medical Genetics. Part A|August 25, 2004
ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutationTakeo Kubota, Hiroyasu Furuumi, Tomohiro Kamoda, et al.Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|August 17, 2014
Vasodilatation of multiple cerebral arteries in early stage of stroke-like episode with MELASShoko Minobe, Akiko Matsuda, Tetsuya Mitsuhashi, et al.Journal of Neurochemistry|October 30, 2013
Identification of two novel Shank3 transcripts in the developing mouse neocortexChikako Waga, Hirotsugu Asano, Tomomi Sanagi, et al.Pageof 20