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Page 1
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion.
Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Ichimoto K, Naruke Y, Akiyama N, Lim SC, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Okazaki A, Ohtake A, Okazaki Y, Murayama K. Ebihara T, et al. Among authors: ohtake a. Mol Genet Metab Rep. 2022 Aug 24;33:100912. doi: 10.1016/j.ymgmr.2022.100912. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36061954 Free PMC article.
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.
Kaji S, Murayama K, Nagata I, Nagasaka H, Takayanagi M, Ohtake A, Iwasa H, Nishiyama M, Okazaki Y, Harashima H, Eitoku T, Yamamoto M, Matsushita H, Kitamoto K, Sakata S, Katayama T, Sugimoto S, Fujimoto Y, Murakami J, Kanzaki S, Shiraki K. Kaji S, et al. Among authors: ohtake a. Mol Genet Metab. 2009 Aug;97(4):292-6. doi: 10.1016/j.ymgme.2009.04.014. Epub 2009 May 12. Mol Genet Metab. 2009. PMID: 19520594
Leigh syndrome with Fukuyama congenital muscular dystrophy: a case report.
Kondo H, Tanda K, Tabata C, Hayashi K, Kihara M, Kizaki Z, Taniguchi-Ikeda M, Mori M, Murayama K, Ohtake A. Kondo H, et al. Among authors: ohtake a. Brain Dev. 2014 Sep;36(8):730-3. doi: 10.1016/j.braindev.2013.09.005. Epub 2013 Oct 7. Brain Dev. 2014. PMID: 24113355
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.
Yamazaki T, Murayama K, Compton AG, Sugiana C, Harashima H, Amemiya S, Ajima M, Tsuruoka T, Fujinami A, Kawachi E, Kurashige Y, Matsushita K, Wakiguchi H, Mori M, Iwasa H, Okazaki Y, Thorburn DR, Ohtake A. Yamazaki T, et al. Among authors: ohtake a. Pediatr Int. 2014 Apr;56(2):180-7. doi: 10.1111/ped.12249. Epub 2014 Mar 6. Pediatr Int. 2014. PMID: 24266892
Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification.
Ohtake A, Murayama K, Mori M, Harashima H, Yamazaki T, Tamaru S, Yamashita Y, Kishita Y, Nakachi Y, Kohda M, Tokuzawa Y, Mizuno Y, Moriyama Y, Kato H, Okazaki Y. Ohtake A, et al. Biochim Biophys Acta. 2014 Apr;1840(4):1355-9. doi: 10.1016/j.bbagen.2014.01.025. Epub 2014 Jan 24. Biochim Biophys Acta. 2014. PMID: 24462578 Free article. Review.
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Moriyama Y, Hashimoto T, Usuda N, Murayama K, Ohtake A, Hasegawa Y, Shigematsu Y, Hasegawa Y. Fukao T, et al. Among authors: ohtake a. J Hum Genet. 2014 Nov;59(11):609-14. doi: 10.1038/jhg.2014.79. Epub 2014 Sep 18. J Hum Genet. 2014. PMID: 25231369
New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.
Uehara N, Mori M, Tokuzawa Y, Mizuno Y, Tamaru S, Kohda M, Moriyama Y, Nakachi Y, Matoba N, Sakai T, Yamazaki T, Harashima H, Murayama K, Hattori K, Hayashi J, Yamagata T, Fujita Y, Ito M, Tanaka M, Nibu K, Ohtake A, Okazaki Y. Uehara N, et al. Among authors: ohtake a. Ann Clin Transl Neurol. 2014 May;1(5):361-9. doi: 10.1002/acn3.59. Epub 2014 Apr 28. Ann Clin Transl Neurol. 2014. PMID: 25356405 Free PMC article.
271 results