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Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
Published in:
2022
By:
- Miyatake, Satoko;
- Yoshida, Kunihiro;
- Koshimizu, Eriko;
- Doi, Hiroshi;
- Yamada, Mitsunori;
- Miyaji, Yosuke;
- Ueda, Naohisa;
- Tsuyuzaki, Jun;
- Kodaira, Minori;
- Onoue, Hiroyuki;
- Taguri, Masataka;
- Imamura, Shintaro;
- Fukuda, Hiromi;
- Hamanaka, Kohei;
- Fujita, Atsushi;
- Satoh, Mai;
- Miyama, Takabumi;
- Watanabe, Nobuko;
- Kurita, Yusuke;
- Okubo, Masaki
Publication type:
journal article
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 4, p. 187, doi. 10.1038/jhg.2015.7
By:
- Kunii, Misako;
- Doi, Hiroshi;
- Higashiyama, Yuichi;
- Kugimoto, Chiharu;
- Ueda, Naohisa;
- Hirata, Junichi;
- Tomita-Katsumoto, Atsuko;
- Kashikura-Kojima, Mari;
- Kubota, Shun;
- Taniguchi, Midori;
- Murayama, Kei;
- Nakashima, Mitsuko;
- Tsurusaki, Yoshinori;
- Miyake, Noriko;
- Saitsu, Hirotomo;
- Matsumoto, Naomichi;
- Tanaka, Fumiaki
Publication type:
Article
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
Published in:
Journal of Human Genetics, 2014, v. 59, n. 3, p. 163, doi. 10.1038/jhg.2013.139
By:
- Ishiura, Hiroyuki;
- Takahashi, Yuji;
- Hayashi, Toshihiro;
- Saito, Kayoko;
- Furuya, Hirokazu;
- Watanabe, Mitsunori;
- Murata, Miho;
- Suzuki, Mikiya;
- Sugiura, Akira;
- Sawai, Setsu;
- Shibuya, Kazumoto;
- Ueda, Naohisa;
- Ichikawa, Yaeko;
- Kanazawa, Ichiro;
- Goto, Jun;
- Tsuji, Shoji
Publication type:
Article
Case Report: Extremely Early Detection of Preclinical Magnetic Resonance Imaging Abnormality in Creutzfeldt–Jakob Disease With the V180I Mutation.
Published in:
Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.751750
By:
- Koizumi, Ryuichi;
- Ueda, Naohisa;
- Mugita, Atsushi;
- Kimura, Katsuo;
- Kishida, Hitaru;
- Tanaka, Fumiaki
Publication type:
Article
Diffuse white matter lesions in a case of herpes simplex encephalitis.
Published in:
Journal of Neurology, 2003, v. 250, n. 7, p. 867, doi. 10.1007/s00415-003-1093-1
By:
- Ueda, Naohisa;
- Miyasaki, Hidetake;
- Kuroiwa, Yoshiyuki
Publication type:
Article
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing.
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00331-y
By:
- Miyatake, Satoko;
- Koshimizu, Eriko;
- Fujita, Atsushi;
- Doi, Hiroshi;
- Okubo, Masaki;
- Wada, Taishi;
- Hamanaka, Kohei;
- Ueda, Naohisa;
- Kishida, Hitaru;
- Minase, Gaku;
- Matsuno, Atsuhiro;
- Kodaira, Minori;
- Ogata, Katsuhisa;
- Kato, Rumiko;
- Sugiyama, Atsuhiko;
- Sasaki, Ayako;
- Miyama, Takabumi;
- Satoh, Mai;
- Uchiyama, Yuri;
- Tsuchida, Naomi
Publication type:
Article
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia.
Published in:
JAMA Neurology, 2015, v. 72, n. 7, p. 797, doi. 10.1001/jamaneurol.2015.0610
By:
- Kokoro Ozaki;
- Hiroshi Doi;
- Jun Mitsui;
- Nozomu Sato;
- Yoichiro Iikuni;
- Takamasa Majima;
- Kiyomi Yamane;
- Takashi Irioka;
- Hiroyuki Ishiura;
- Koichiro Doi;
- Shinichi Morishita;
- Miwa Higashi;
- Teruhiko Sekiguchi;
- Kazuo Koyama;
- Naohisa Ueda;
- Yoshiharu Miura;
- Satoko Miyatake;
- Naomichi Matsumoto;
- Takanori Yokota;
- Fumiaki Tanaka
Publication type:
Article
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.
Published in:
2019
By:
- Okubo, Masaki;
- Doi, Hiroshi;
- Fukai, Ryoko;
- Fujita, Atsushi;
- Mitsuhashi, Satomi;
- Hashiguchi, Shunta;
- Kishida, Hitaru;
- Ueda, Naohisa;
- Morihara, Keisuke;
- Ogasawara, Akihiro;
- Kawamoto, Yuko;
- Takahashi, Tatsuya;
- Takahashi, Keita;
- Nakamura, Haruko;
- Kunii, Misako;
- Tada, Mikiko;
- Katsumoto, Atsuko;
- Fukuda, Hiromi;
- Mizuguchi, Takeshi;
- Miyatake, Satoko
Publication type:
journal article
Quantitative analysis of upper-limb ataxia in patients with spinocerebellar degeneration.
Published in:
Journal of Neurology, 2014, v. 261, n. 7, p. 1381, doi. 10.1007/s00415-014-7353-4
By:
- Ueda, Naohisa;
- Hakii, Yasuhito;
- Koyano, Shigeru;
- Higashiyama, Yuichi;
- Joki, Hideto;
- Baba, Yasuhisa;
- Suzuki, Yume;
- Kuroiwa, Yoshiyuki;
- Tanaka, Fumiaki
Publication type:
Article
Reduced likelihood of the Poggendorff illusion in cerebellar strokes: a clinical and neuroimaging study.
Published in:
Brain Communications, 2023, v. 5, n. 2, p. 1, doi. 10.1093/braincomms/fcad053
By:
- Yuichi Higashiyama;
- Miho Kuroki;
- Yosuke Kudo;
- Tomoya Hamada;
- Keisuke Morihara;
- Asami Saito;
- Yosuke Miyaji;
- Katsuo Kimura;
- Hideto Joki;
- Hitaru Kishida;
- Hiroshi Doi;
- Naohisa Ueda;
- Hideyuki Takeuchi;
- Ken Johkura;
- Fumiaki Tanaka
Publication type:
Article
Adjustment of Subthalamic Deep Brain Stimulation Parameters Improves Wheeze and Dyspnea in Parkinson's Disease.
Published in:
Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01317
By:
- Komiya, Hiroyasu;
- Kimura, Katsuo;
- Kishida, Hitaru;
- Kawasaki, Takashi;
- Hamada, Koichi;
- Koizumi, Hiroyuki;
- Ueda, Naohisa;
- Tanaka, Fumiaki
Publication type:
Article
Wernicke’s Encephalopathy Accompanied by Multiple Symptomatic Cerebral Hemorrhages during the Recovery Phase.
Published in:
European Neurology, 2002, v. 48, n. 3, p. 181, doi. 10.1159/000065516
By:
- Susuki, Keiichiro;
- Ueda, Naohisa;
- Tanigawa, Akiyo;
- Horikoshi, Hiroyuki;
- Kuroiwa, Yoshiyuki
Publication type:
Article
RNA Foci in Two bi‐Allelic RFC1 Expansion Carriers.
Published in:
Annals of Neurology, 2024, v. 95, n. 3, p. 607, doi. 10.1002/ana.26848
By:
- Wada, Taishi;
- Doi, Hiroshi;
- Okubo, Masaki;
- Tada, Mikiko;
- Ueda, Naohisa;
- Suzuki, Hidefumi;
- Tominaga, Wakana;
- Koike, Haruki;
- Komiya, Hiroyasu;
- Kubota, Shun;
- Hashiguchi, Shunta;
- Nakamura, Haruko;
- Takahashi, Keita;
- Kunii, Misako;
- Tanaka, Kenichi;
- Miyaji, Yosuke;
- Higashiyama, Yuichi;
- Koshimizu, Eriko;
- Miyatake, Satoko;
- Katsuno, Masahisa
Publication type:
Article

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