Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
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Published:2019-07-22
Issue:8
Volume:51
Page:1222-1232
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Ishiura Hiroyuki, Shibata Shota, Yoshimura Jun, Suzuki Yuta, Qu Wei, Doi Koichiro, Almansour M. Asem, Kikuchi Junko KandaORCID, Taira Makiko, Mitsui JunORCID, Takahashi Yuji, Ichikawa Yaeko, Mano Tatsuo, Iwata Atsushi, Harigaya Yasuo, Matsukawa Miho Kawabe, Matsukawa Takashi, Tanaka Masaki, Shirota Yuichiro, Ohtomo RyoORCID, Kowa Hisatomo, Date Hidetoshi, Mitsue Aki, Hatsuta Hiroyuki, Morimoto Satoru, Murayama Shigeo, Shiio Yasushi, Saito Yuko, Mitsutake Akihiko, Kawai Mizuho, Sasaki Takuya, Sugiyama Yusuke, Hamada Masashi, Ohtomo Gaku, Terao Yasuo, Nakazato Yoshihiko, Takeda Akitoshi, Sakiyama YoshioORCID, Umeda-Kameyama YumiORCID, Shinmi JunORCID, Ogata Katsuhisa, Kohno Yutaka, Lim Shen-Yang, Tan Ai Huey, Shimizu Jun, Goto Jun, Nishino IchizoORCID, Toda Tatsushi, Morishita Shinichi, Tsuji ShojiORCID
Publisher
Springer Science and Business Media LLC
Reference59 articles.
1. Loureiro, J. R., Oliveira, C. L. & Silveira, I. Unstable repeat expansions in neurodegenerative diseases: nucleocytoplasmic transport emerges on the scene. Neurobiol. Aging 39, 174–183 (2016). 2. Vissers, L. E. et al. A de novo paradigm for mental retardation. Nat. Genet. 42, 1109–1112 (2010). 3. Lindenberg, R., Rubinstein, L. J., Herman, M. M. & Haydon, G. B. A light and electron microscopy study of an unusual widespread nuclear inclusion body disease. A possible residuum of an old herpesvirus infection. Acta Neuropathol. 10, 54–73 (1968). 4. Haltia, M., Somer, H., Palo, J. & Johnson, W. G. Neuronal intranuclear inclusion disease in identical twins. Ann. Neurol. 15, 316–321 (1984). 5. Sone, J. et al. Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain 139, 3170–3186 (2016).
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