Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Tomofumi Shimojo"'
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)
Abstract Asymptomatic hyper-CK-emia (ASCK) is characterized by persistent elevation of creatine kinase (CK) in serum without any neurological symptoms. We ascertained a two-generation family of ASCK patients without clear neurological abnormalities e
Externí odkaz:
https://doaj.org/article/10cfb46a38294fa2bbfabe4f4ae40c04
Autor:
Kengo Kosaka, Eiji Matsuura, Shin Ichiro Mori, Shiroh Miura, Ryuta Fujioka, Hirotomo Saitsu, Ken Yamamoto, Kazuhito Noda, Fujio Umehara, Tomofumi Shimojo, Hiroki Shibata, Toru Iwaki
Publikováno v:
Journal of Human Genetics. 65:717-725
In 2008, we reported a clinically and genetically new type of autosomal dominant disorder of motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough. To identify the nucleotide vari
Autor:
Akihiro Nagano, Shiroh Miura, Hiroaki Ohishi, Takuya Morikawa, Motoko Unoki, Kengo Kosaka, Hiroyuki Sasaki, Kosei Moriyama, Motonao Nakao, Takeshi Bamba, Yoshihiro Izumi, Masatomo Takahashi, Itsuki Taniguchi, Tomofumi Shimojo, Ryuta Fujioka, Hiroki Shibata
Publikováno v:
Bioscience Reports
We have previously reported a novel homozygous 4-bp deletion in DDHD1 as the responsible variant for spastic paraplegia type 28 (SPG28; OMIM#609340). The variant causes a frameshift, resulting in a functionally null allele in the patient. DDHD1 encod
Autor:
Yusuke Uchiyama, Shiroh Miura, Takuya Morikawa, Ryuta Fujioka, Tomofumi Shimojo, Hiroki Shibata, Takashi Kamada, Seiji Kurata
Publikováno v:
Journal of human genetics. 66(8)
Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by episodic involuntary movement attacks triggered by sudden movements, acceleration, or intention to move. We ascertained two Japanese familial cases with PKD. The proband
Autor:
Takayuki Taniwaki, Masaya Harada, Kengo Kosaka, Hiroki Shibata, Takuo Nomura, Shuji Nagata, Takuya Morikawa, Tomofumi Shimojo, Ryuta Fujioka, Shiroh Miura
Publikováno v:
European journal of medical genetics. 62(12)
Distal hereditary motor neuropathies (dHMNs) comprise a group of clinically and genetically heterogeneous inherited lower motor neuron syndromes mainly characterized by a distal-predominant pattern of progressive muscle atrophy, weakness and hyporefl
Autor:
Azusa Irie, Shiroh Miura, Hiroki Shibata, Yusuke Uchiyama, Takayuki Taniwaki, Takuya Morikawa, Ryuta Fujioka, Tomofumi Shimojo, Kengo Kosaka
Publikováno v:
European journal of medical genetics. 62(3)
Spinocerebellar ataxia 27 (SCA27) is an autosomal dominant SCA caused by variants in the fibroblast growth factor 14 (FGF14) gene. We examined a Japanese SCA patient whose deceased father also suffered from SCA. The patient was a 63-year-old male. He
Autor:
Takuya Morikawa, Hiroaki Ohishi, Kengo Kosaka, Tomofumi Shimojo, Akihiro Nagano, Itsuki Taniguchi, Ryuta Fujioka, Kosei Moriyama, Motoko Unoki, Masatomo Takahashi, Motonao Nakao, Yoshihiro Izumi, Takeshi Bamba, Hiroyuki Sasaki, Shiroh Miura, Hiroki Shibata
Publikováno v:
Bioscience Reports; Feb2021, Vol. 41 Issue 2, p1-13, 13p
Autor:
Masahito Suiko, Keiichi Fukui, Tomomi Kondoh, Yoichi Sakakibara, Keiko Nakahara, Tomofumi Shimojo, Kiyoko Nagahama, Nozomu Eto
Publikováno v:
Bioscience, biotechnology, and biochemistry. 79(8)
Natural killer (NK) cells play a key role in innate immune defense against infectious disease and cancer. A reduction of NK activity is likely to be associated with increased risk of these types of disease. In this study, we investigate the activatio