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706 results

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Page 1
Genome sequencing in persistently unsolved white matter disorders.
Helman G, Lajoie BR, Crawford J, Takanohashi A, Walkiewicz M, Dolzhenko E, Gross AM, Gainullin VG, Bent SJ, Jenkinson EM, Ferdinandusse S, Waterham HR, Dorboz I, Bertini E, Miyake N, Wolf NI, Abbink TEM, Kirwin SM, Tan CM, Hobson GM, Guo L, Ikegawa S, Pizzino A, Schmidt JL, Bernard G, Schiffmann R, van der Knaap MS, Simons C, Taft RJ, Vanderver A. Helman G, et al. Among authors: miyake n. Ann Clin Transl Neurol. 2020 Jan;7(1):144-152. doi: 10.1002/acn3.50957. Epub 2020 Jan 7. Ann Clin Transl Neurol. 2020. PMID: 31912665 Free PMC article.
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.
Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S. Iida A, et al. Among authors: miyake n. J Hum Genet. 2013 Jun;58(6):391-4. doi: 10.1038/jhg.2013.25. Epub 2013 Apr 4. J Hum Genet. 2013. PMID: 23552673
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima M, Tsurusaki Y, Miyake N, Ogata K, Matsumoto N, Saitsu H. Miyatake S, et al. Among authors: miyake n. Neurology. 2014 Jun 17;82(24):2230-7. doi: 10.1212/WNL.0000000000000535. Epub 2014 May 21. Neurology. 2014. PMID: 24850488
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
Nakashima M, Saitsu H, Takei N, Tohyama J, Kato M, Kitaura H, Shiina M, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Zheng Y, Sato T, Takebayashi H, Ogata K, Kameyama S, Kakita A, Matsumoto N. Nakashima M, et al. Among authors: miyake n. Ann Neurol. 2015 Sep;78(3):375-86. doi: 10.1002/ana.24444. Epub 2015 Jul 3. Ann Neurol. 2015. PMID: 26018084
Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head.
Sakamoto Y, Yamamoto T, Miyake N, Matsumoto N, Iida A, Nakashima Y; Research Committee on Idiopathic Osteonecrosis of the Femoral Head of the Ministry of Health, Labour and Welfare of Japan; Iwamoto Y, Ikegawa S. Sakamoto Y, et al. Among authors: miyake n. J Orthop Res. 2017 Apr;35(4):768-774. doi: 10.1002/jor.23300. Epub 2016 May 29. J Orthop Res. 2017. PMID: 27183340 Free article.
706 results