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A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).
Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I; Japan Spastic Paraplegia Research Consortium (JASPAC). Shimazaki H, et al. Among authors: goto j, goto y. J Med Genet. 2012 Dec;49(12):777-84. doi: 10.1136/jmedgenet-2012-101212. J Med Genet. 2012. PMID: 23188110
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Ogata K, Goto Y, Matsumoto N. Miyake N, et al. Among authors: goto y. Hum Mutat. 2013 Mar;34(3):446-52. doi: 10.1002/humu.22257. Epub 2013 Jan 29. Hum Mutat. 2013. PMID: 23281071
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.
Ishiyama A, Sakai C, Matsushima Y, Noguchi S, Mitsuhashi S, Endo Y, Hayashi YK, Saito Y, Nakagawa E, Komaki H, Sugai K, Sasaki M, Sato N, Nonaka I, Goto YI, Nishino I. Ishiyama A, et al. Among authors: goto yi. Neurol Genet. 2017 Sep 8;3(5):e184. doi: 10.1212/NXG.0000000000000184. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28913435 Free PMC article.
4,528 results