Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myop...
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
About this item
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Author / Creator
Ishiura, Hiroyuki , Shibata, Shota , Yoshimura, Jun , Suzuki, Yuta , Qu, Wei , Doi, Koichiro , Almansour, M. Asem , Kikuchi, Junko Kanda , Taira, Makiko , Mitsui, Jun , Takahashi, Yuji , Ichikawa, Yaeko , Mano, Tatsuo , Iwata, Atsushi , Harigaya, Yasuo , Matsukawa, Miho Kawabe , Matsukawa, Takashi , Tanaka, Masaki , Shirota, Yuichiro , Ohtomo, Ryo , 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, Yoshio , Umeda-Kameyama, Yumi , Shinmi, Jun , Ogata, Katsuhisa , Kohno, Yutaka , Lim, Shen-Yang , Tan, Ai Huey , Shimizu, Jun , Goto, Jun , Nishino, Ichizo , Toda, Tatsushi , Morishita, Shinichi and Tsuji, Shoji
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and neuroimaging findings between neuronal intranuclear...
Alternative Titles
Full title
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
Authors, Artists and Contributors
Author / Creator
Shibata, Shota
Yoshimura, Jun
Suzuki, Yuta
Qu, Wei
Doi, Koichiro
Almansour, M. Asem
Kikuchi, Junko Kanda
Taira, Makiko
Mitsui, Jun
Takahashi, Yuji
Ichikawa, Yaeko
Mano, Tatsuo
Iwata, Atsushi
Harigaya, Yasuo
Matsukawa, Miho Kawabe
Matsukawa, Takashi
Tanaka, Masaki
Shirota, Yuichiro
Ohtomo, Ryo
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, Yoshio
Umeda-Kameyama, Yumi
Shinmi, Jun
Ogata, Katsuhisa
Kohno, Yutaka
Lim, Shen-Yang
Tan, Ai Huey
Shimizu, Jun
Goto, Jun
Nishino, Ichizo
Toda, Tatsushi
Morishita, Shinichi
Tsuji, Shoji
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2267791013
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2267791013
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/s41588-019-0458-z