Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Daisuke Ieda"'
Autor:
Masanori Fujimoto, Yuji Nakamura, Kana Hosoki, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Ayako Hattori, Hideaki Shiraishi, Shinji Saitoh
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100342- (2024)
Summary: Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function of maternal UBE3A. The major cause of AS is a maternal deletion in 15q11.2-q13, and the minor causes are a UBE3A mutation, uniparental disomy (UPD)
Externí odkaz:
https://doaj.org/article/6a1cd99501b64c9ea6920a3c140d3c99
Autor:
Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Abstract Background Schaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncating variant in maternally imprinted MAGEL2 located in 15q11-q13. Yet, precise pathomechanism remains to be solved. We sequen
Externí odkaz:
https://doaj.org/article/9452f2d30f0a454aa154805cdae0f6ea
Autor:
Takuya Hiraide, Ayako Hattori, Daisuke Ieda, Ikumi Hori, Shinji Saitoh, Mitsuko Nakashima, Hirotomo Saitsu
Publikováno v:
Epilepsia Open, Vol 4, Iss 3, Pp 476-481 (2019)
Abstract Epilepsy with myoclonic absences is a specific seizure type characterized by bilateral rhythmic clonic jerks with impairment of consciousness. Here, we report an individual with epilepsy with myoclonic absences, mild intellectual disabilitie
Externí odkaz:
https://doaj.org/article/3e3682cd96a447f084c142007ca0e052
Autor:
Daisuke Ieda, Yutaka Negishi, Tomomi Miyamoto, Yoshikazu Johmura, Natsuko Kumamoto, Kohji Kato, Ichiro Miyoshi, Makoto Nakanishi, Shinya Ugawa, Hisashi Oishi, Shinji Saitoh
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0237814 (2020)
Schaaf-Yang syndrome (SYS) is a neurodevelopmental disorder caused by truncating variants in the paternal allele of MAGEL2, located in the Prader-Willi critical region, 15q11-q13. Although the phenotypes of SYS overlap those of Prader-Willi syndrome
Externí odkaz:
https://doaj.org/article/f3848521228e4611b929283e23d91d29
Autor:
Kosuke Yamamoto, Kei Ohashi, Masanori Fujimoto, Daisuke Ieda, Yuji Nakamura, Ayako Hattori, Tadashi Kaname, Kuniko Ieda, Ichizo Nishino, Shinji Saitoh
Publikováno v:
Brain and Development. 44:578-582
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e7075cd1e63a53ef224f3490e81bace
https://doi.org/10.1016/j.braindev.2022.04.006
https://doi.org/10.1016/j.braindev.2022.04.006
Autor:
Kouji Isobe, Daisuke Ieda, Fuyuki Miya, Rieko Miyachi, Shiomi Otsuji, Masami Asai, Tatsuhiko Tsunoda, Kenjiro Kosaki, Ayako Hattori, Shinji Saitoh, Mihoko Mizuno
Publikováno v:
Brain and Development. 44:249-253
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::84043806ec1c807f1a73f6859fb1b905
https://doi.org/10.1016/j.braindev.2021.11.007
https://doi.org/10.1016/j.braindev.2021.11.007
Autor:
Masanori Fujimoto, Yuji Nakamura, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Ayako Hattori, Anna Shiraki, Seiji Mizuno, Shinji Saitoh
Publikováno v:
Journal of Human Genetics. 68:111-112
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb420076e351da4256cd00840caadbd7
https://doi.org/10.1038/s10038-022-01101-5
https://doi.org/10.1038/s10038-022-01101-5
Autor:
Shogo Ito, Minoru Kokubo, Daisuke Ieda, Kohei Aoyama, Ikumi Hori, Shinji Saitoh, Yuji Nakamura, Seimi Ebe, Kei Ohashi, Ayako Hattori
Publikováno v:
Brain and Development. 43:590-595
Introduction Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their correct tRNAs. Bi-allelic truncating variants i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0d16872ad3b7059b3a2c6a3908656f9
https://doi.org/10.1016/j.braindev.2020.12.008
https://doi.org/10.1016/j.braindev.2020.12.008
Autor:
Ayako Hattori, Ikumi Hori, Hirotomo Saitsu, Daisuke Ieda, Shinji Saitoh, Mitsuko Nakashima, Takuya Hiraide
Publikováno v:
Epilepsia Open
Epilepsia Open, Vol 4, Iss 3, Pp 476-481 (2019)
Epilepsia Open, Vol 4, Iss 3, Pp 476-481 (2019)
Epilepsy with myoclonic absences is a specific seizure type characterized by bilateral rhythmic clonic jerks with impairment of consciousness. Here, we report an individual with epilepsy with myoclonic absences, mild intellectual disabilities, langua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20ab4ccb4e5a0dfbd10f4c6269975c8f
http://europepmc.org/articles/PMC6698685
http://europepmc.org/articles/PMC6698685
