Y
Yujiro Higuchi
Researcher at Kagoshima University
Publications - 56
Citations - 631
Yujiro Higuchi is an academic researcher from Kagoshima University. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 11, co-authored 39 publications receiving 433 citations.
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Journal ArticleDOI
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2
Yujiro Higuchi,Akihiro Hashiguchi,Junhui Yuan,Akiko Yoshimura,Jun Mitsui,Hiroyuki Ishiura,Masaki Tanaka,Satoshi Ishihara,Satoshi Ishihara,Hajime Tanabe,Satoshi Nozuma,Yuji Okamoto,Eiji Matsuura,Ryuichi Ohkubo,Saeko Inamizu,Wataru Shiraishi,Ryo Yamasaki,Yasumasa Ohyagi,Jun Ichi Kira,Yasushi Oya,Hayato Yabe,Noriko Nishikawa,Shinsuke Tobisawa,Nozomu Matsuda,Masayuki Masuda,Chiharu Kugimoto,Kazuhiro Fukushima,Satoshi Yano,Jun Yoshimura,Koichiro Doi,Masanori Nakagawa,Shinichi Morishita,Shoji Tsuji,Hiroshi Takashima +33 more
TL;DR: The objective of this study was to identify new causes of Charcot–Marie–Tooth (CMT) disease in patients with autosomal‐recessive (AR) CMT.
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Nerve ultrasound depicts peripheral nerve enlargement in patients with genetically distinct Charcot-Marie-Tooth disease
Yu-ichi Noto,Kensuke Shiga,Yukiko Tsuji,Ikuko Mizuta,Yujiro Higuchi,Akihiro Hashiguchi,Hiroshi Takashima,Masanori Nakagawa,Toshiki Mizuno +8 more
TL;DR: Nerve US may aid in differentiating among the subtypes of CMT in combination with NCS, and in CMT1A, the median nerve CSA correlates with the disease severity and peripheral nerve function.
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Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan
Akiko Yoshimura,Junhui Yuan,Akihiro Hashiguchi,Masahiro Ando,Yujiro Higuchi,Tomonori Nakamura,Yuji Okamoto,Masanori Nakagawa,Hiroshi Takashima +8 more
TL;DR: First decade of life was found as the most common disease onset period, and early-onset CMT cases were most likely to receive a molecular diagnosis, and geographical distribution analysis indicated distinctive genetic spectrums in different regions of Japan.
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Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation
Junhui Yuan,Eiji Matsuura,Yujiro Higuchi,Akihiro Hashiguchi,Tomonori Nakamura,Satoshi Nozuma,Yusuke Sakiyama,Akiko Yoshimura,Shuji Izumo,Hiroshi Takashima +9 more
TL;DR: In this paper, a homozygous mutation, c.3993delGinsTT, was identified in exon 22 of SCN9A from two Japanese families with autosomal recessive HSAN.
Journal ArticleDOI
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Yujiro Higuchi,Ryuta Okunushi,Taichi Hara,Akihiro Hashiguchi,Junhui Yuan,Akiko Yoshimura,Kei Murayama,Akira Ohtake,Masahiro Ando,Yu Hiramatsu,Satoshi Ishihara,Satoshi Ishihara,Hajime Tanabe,Yuji Okamoto,Eiji Matsuura,Takehiro Ueda,Tatsushi Toda,Tatsushi Toda,Sumimasa Yamashita,Kenichiro Yamada,Takashi Koide,Hiroaki Yaguchi,Jun Mitsui,Hiroyuki Ishiura,Jun Yoshimura,Koichiro Doi,Shinichi Morishita,Ken Sato,Masanori Nakagawa,Masamitsu Yamaguchi,Shoji Tsuji,Hiroshi Takashima +31 more
TL;DR: Rec recessive mutations in the mitochondrial gene, cytochrome c oxidase assembly factor 7 (COA7) in four unrelated patients with an axonal-type motor and sensory neuropathy with ataxia are identified.