תוצאות חיפוש - Shinichi Magara
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1
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders מאת Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Noriyuki Akasaka, Shinichi Magara, Hideshi Kawashima, Tsukasa Ohashi, Hideaki Shiraishi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
יצא לאור 2015Artigo -
2
<i>De novo</i> variants in <i><scp>CAMK</scp>2A</i> and <i><scp>CAMK</scp>2B</i> cause neurodevelopmental disorders מאת Tenpei Akita, Kazushi Aoto, Mitsuhiro Kato, Masaaki Shiina, Hiroki Mutoh, Mitsuko Nakashima, Ichiro Kuki, Shin Okazaki, Shinichi Magara, Takashi Shiihara, Kenji Yokochi, Kaori Aiba, Jun Tohyama, Chihiro Ohba, Satoko Miyatake, Noriko Miyake, Kazuhiro Ogata, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
יצא לאור 2018Artigo -
3
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement מאת Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, N Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh
יצא לאור 2017Artigo
כלי חיפוש:
נושאים קשורים
Medicine
Biology
Gene
Genetics
Agenesis of the corpus callosum
Apoptosis
Autophagy
Biochemistry
Cell biology
Chorea
Choreoathetosis
Corpus callosum
Disease
Dyskinesia
Dystonia
Encephalopathy
Enzyme
Epilepsy
Exome sequencing
Exon
Frameshift mutation
Genetic heterogeneity
Hypopigmentation
Lysosome
Missense mutation
Movement disorders
Mutation
Myoclonus
Neurodevelopmental disorder
Neuroscience