Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Yuichi Akaba"'
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Proper development and function of the central nervous system require precise regulation of gene expression. MicroRNAs (miRNAs), a group of small non-coding RNAs that can negatively regulate gene expression at the post-transcriptional level, are crit
Externí odkaz:
https://doaj.org/article/2a0ae5a9f74c4f67ba4360eb455b8550
Publikováno v:
Case Reports in Neurology, Vol 13, Iss 3, Pp 763-771 (2021)
Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by degeneration of the corticospinal tract. Among the 79 causative genes involved in HSPs, variants in SPAST on chromosome 2p22, which encodes the microtubule-severing prote
Externí odkaz:
https://doaj.org/article/ad7956db9301452a839dc2ffeee685f8
Autor:
Yuichi Akaba, Tadashi Shiohama, Yuji Komaki, Fumiko Seki, Alpen Ortug, Daisuke Sawada, Wataru Uchida, Koji Kamagata, Keigo Shimoji, Shigeki Aoki, Satoru Takahashi, Takeshi Suzuki, Jun Natsume, Emi Takahashi, Keita Tsujimura
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
Rett syndrome (RTT) is a severe progressive neurodevelopmental disorder characterized by various neurological symptoms. Almost all RTT cases are caused by mutations in the X-linked methyl-CpG-binding protein 2 (MeCP2) gene, and several mouse models h
Externí odkaz:
https://doaj.org/article/ccd0261a04494ceba7566949cb74c6ff
Autor:
Yuichi Akaba, Satoru Takahashi, Ryo Takeguchi, Ryosuke Tanaka, Shin Nabatame, Hirotomo Saitsu, Naomichi Matsumoto
Publikováno v:
Clinical Case Reports, Vol 9, Iss 3, Pp 1711-1715 (2021)
Abstract Pyruvate dehydrogenase complex (PDHC) deficiency is a mitochondrial disorder. We report two cases of PDHC deficiency with clinical symptoms and brain imaging findings reminiscent of FOXG1 syndrome, suggesting a phenotypic overlap of these di
Externí odkaz:
https://doaj.org/article/b8641c670ef84b60a248b4e5009efd26
Publikováno v:
Clinical Case Reports, Vol 8, Iss 12, Pp 2682-2684 (2020)
Abstract Distal renal tubular acidosis is a risk factor for refeeding syndrome. Frequent measurement of serum phosphorus levels at the initiation of nutrition and rapid administration of phosphate preparations are required to prevent organ failure.
Externí odkaz:
https://doaj.org/article/02fcaac2cc384ef8a98569388dea23e5
Autor:
Yuichi Akaba, Ryo Takeguchi, Ryosuke Tanaka, Yoshio Makita, Takashi Kimura, Kumiko Yanagi, Tadashi Kaname, Ichizo Nishino, Satoru Takahashi
Publikováno v:
Journal of clinical neuromuscular disease. 24(1)
Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar degeneration. Bcl-2-associated athanogene 3 (BAG3)-related myopathy is the rarest form of myofibrillar myopathy. Patients with
Autor:
Ryo, Takeguchi, Mami, Kuroda, Ryosuke, Tanaka, Nao, Suzuki, Yuichi, Akaba, Keita, Tsujimura, Masayuki, Itoh, Satoru, Takahashi
Publikováno v:
Journal of the Neurological Sciences. 441:120381
To clarify the relationship between structural and functional changes in the brains of patients with Rett syndrome (RTT) using multimodal magnetic resonance imaging (MRI).Nine subjects with typical RTT (RTTs) and an equal number of healthy controls (
Publikováno v:
Clinical Case Reports
Clinical Case Reports, Vol 8, Iss 12, Pp 2682-2684 (2020)
Clinical Case Reports, Vol 8, Iss 12, Pp 2682-2684 (2020)
Distal renal tubular acidosis is a risk factor for refeeding syndrome. Frequent measurement of serum phosphorus levels at the initiation of nutrition and rapid administration of phosphate preparations are required to prevent organ failure.
Autor:
Toyojiro Matsuishi, Masayuki Itoh, Kenji Kurosawa, Yuichi Akaba, Ryo Takeguchi, Shin Nabatame, Ryosuke Tanaka, Satoru Takahashi
Publikováno v:
Journal of the neurological sciences. 422
This study aimed to elucidate the clinical characteristics of MECP2 duplication syndrome (MDS), particularly at initial presentation, and to provide clinical clues for the early diagnosis of this condition. We conducted a nationwide survey for MDS by
Autor:
Satoru Takahashi, Ryo Takeguchi, Naomichi Matsumoto, Ryosuke Tanaka, Hirotomo Saitsu, Yuichi Akaba, Shin Nabatame
Publikováno v:
Clinical Case Reports
Clinical Case Reports, Vol 9, Iss 3, Pp 1711-1715 (2021)
Clinical Case Reports, Vol 9, Iss 3, Pp 1711-1715 (2021)
Pyruvate dehydrogenase complex (PDHC) deficiency is a mitochondrial disorder. We report two cases of PDHC deficiency with clinical symptoms and brain imaging findings reminiscent of FOXG1 syndrome, suggesting a phenotypic overlap of these disorders.<
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a30beb5aa3079a4e0338061fb4b2f764
https://doi.org/10.22541/au.160010831.19547753
https://doi.org/10.22541/au.160010831.19547753