المؤلفون: M. Asem Almansour, Takuya Sasaki, Yusuke Sugiyama, Takashi Matsukawa, Jun Mitsui, Yoshio Sakiyama, Ryo Ohtomo, Katsuhisa Ogata, Mizuho Kawai, Wei Qu, Gaku Ohtomo, Shoji Tsuji, Jun Yoshimura, Yasuo Harigaya, Makiko Taira, Ai Huey Tan, Ichizo Nishino, Masaki Tanaka, Yoshihiko Nakazato, Yutaka Kohno, Tatsushi Toda, Satoru Morimoto, Hiroyuki Ishiura, Hisatomo Kowa, Yasushi Shiio, Yuko Saito, Aki Mitsue, Akihiko Mitsutake, Koichiro Doi, Junko Kanda Kikuchi, Hiroyuki Hatsuta, Yuji Takahashi, Shota Shibata, Yuta Suzuki, Shigeo Murayama, Shen-Yang Lim, Yasuo Terao, Atsushi Iwata, Tatsuo Mano, Hidetoshi Date, Yuichiro Shirota, Akitoshi Takeda, Yumi Umeda-Kameyama, Masashi Hamada, Jun Shimizu, Yaeko Ichikawa, Jun Goto, Miho Matsukawa, Jun Shinmi, Shinichi Morishita

المصدر: Nature Genetics. 51:1222-1232

مصطلحات موضوعية: Adult, Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Intranuclear Inclusion Bodies, Neuroimaging, Disease, Biology, Linkage Disequilibrium, Muscular Dystrophies, Leukoencephalopathy, Fragile X Mental Retardation Protein, 03 medical and health sciences, 0302 clinical medicine, Tremor, Genetics, medicine, Humans, Amyotrophic lateral sclerosis, Myopathy, 030304 developmental biology, 0303 health sciences, Brain, High-Throughput Nucleotide Sequencing, Neurodegenerative Diseases, Middle Aged, medicine.disease, FMR1, Pedigree, nervous system diseases, Case-Control Studies, Fragile X Syndrome, Mutation, Spinocerebellar ataxia, Female, medicine.symptom, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Low Density Lipoprotein Receptor-Related Protein-1, 030217 neurology & neurosurgery, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fabbca88fccb4f7916d5eafc2c7dbef
https://doi.org/10.1038/s41588-019-0458-z

المؤلفون: Yasuko Toyoshima, Shoichi Ishiura, Taisuke Otsuki, Yoshikazu Ugawa, Norio Kanesawa, Yutaka Suzuki, Akira Tamaoka, Yuji Takahashi, Masashi Hamada, Ryoko Koike, Hiroshi Akiyama, Ritsuko Hanajima, Jun Shimizu, Hitoshi Takahashi, Koji Abe, Takashi Matsukawa, Takefumi Hitomi, Jun Mitsui, Mieko Otsuka, Yasuo Terao, Shota Shibata, Mutsuo Sasagawa, Shoji Tsuji, Yutaka Saito, Takeshi Yasuda, Takayuki Kondo, Wei Qu, Koichiro Higasa, Masaki Tanaka, Asao Fujiyama, Sumio Sugano, Akira Sano, Hideaki Yurino, Hidetoshi Date, Miho Matsukawa, Junko Kanda, Osamu Onodera, Satomi Inomata-Terada, Masayuki Nakamura, Yuichiro Shirota, Akatsuki Kubota, Jun Yoshimura, Toshihiro Hayashi, Ryo Yamasaki, K. Kaida, Akio Ikeda, Akiyoshi Kakita, Yoshio Sakiyama, Kazuhiro Sanpei, Jun Goto, Yasuko Kuroha, Aki Mitsue, Naoya Hasegawa, Masatoyo Nishizawa, Hiroki Takano, Akira Ueki, Kazuki Ichikawa, Fumiko Kusunoki Nakamoto, Mana Higashihara, Yoshihisa Takiyama, Shinichi Morishita, Koichiro Doi, Yaeko Ichikawa, Natsumi Ohsawa-Yoshida, Kishin Koh, Hiroyuki Ishiura, Masayoshi Tada

المصدر: Nature genetics. 50(4)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Benign adult familial myoclonic epilepsy, Sequence analysis, Current Literature In Clinical Sciences, Epilepsies, Myoclonic, Nerve Tissue Proteins, Biology, Autoantigens, Genomic Instability, 03 medical and health sciences, Epilepsy, Purkinje Cells, 0302 clinical medicine, Genetics, medicine, Guanine Nucleotide Exchange Factors, Humans, Age of Onset, Gene, DNA Repeat Expansion, Base Sequence, Intron, RNA-Binding Proteins, Sequence Analysis, DNA, medicine.disease, Introns, Pedigree, Sterile Alpha Motif, genomic DNA, 030104 developmental biology, Female, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0667ba844436dc89160e64c454605b
https://pubmed.ncbi.nlm.nih.gov/30254519

المؤلفون: Toshihiro Hayashi, Jun Mitsui, Shoji Tsuji, Aki Mitsue, R. Inoue, Tatsuo Mano, Atsushi Iwata, Masaaki Tanaka, Takashi Matsukawa

المصدر: Journal of the Neurological Sciences. 381:698

مصطلحات موضوعية: medicine.medical_specialty, Serum ceruloplasmin, Endocrinology, Neurology, Chemistry, Internal medicine, medicine, Neurology (clinical), Aceruloplasminemia, medicine.disease, Ferroxidase activity

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::42d5639a28b99b0e2d25d7e1965ae927
https://doi.org/10.1016/j.jns.2017.08.1965