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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Ishiura H, et al. Among authors: ohtomo g, ohtomo r. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332380
An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy.
Yamaguchi N, Mano T, Ohtomo R, Ishiura H, Almansour MA, Mori H, Kanda J, Shirota Y, Taira K, Morikawa T, Ikemura M, Yanagi Y, Murayama S, Shimizu J, Sakurai Y, Tsuji S, Iwata A. Yamaguchi N, et al. Among authors: ohtomo r. Intern Med. 2018 Dec 1;57(23):3459-3462. doi: 10.2169/internalmedicine.1141-18. Epub 2018 Aug 10. Intern Med. 2018. PMID: 30101925 Free PMC article.
Abadie's sign in adrenomyeloneuropathy.
Ohtomo R, Matsukawa T, Tsuji S, Iwata A. Ohtomo R, et al. J Neurol Sci. 2014 May 15;340(1-2):245-6. doi: 10.1016/j.jns.2014.03.019. Epub 2014 Mar 31. J Neurol Sci. 2014. PMID: 24726718 No abstract available.
66 results