المؤلفون: Tadashi Kaname, Shinji Saitoh, Naoya Yamaguchi, Kohji Kato, Ayako Hattori, Kyoko Ban, Yuji Nakamura, Atsushi Suzuki, Yusuke Okuno, Yoshiyuki Takahashi, Hideki Muramatsu

المصدر: Brain and Development. 42:298-301

مصطلحات موضوعية: Proband, Pathology, medicine.medical_specialty, Mucolipidosis, business.industry, General Medicine, Corpus callosum, Compound heterozygosity, medicine.disease, White matter, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Developmental Neuroscience, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Mucolipidosis type IV, business, 030217 neurology & neurosurgery, Exome sequencing, MCOLN1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5b3d8c40ec92688087785b202b0b12f3Test
https://doi.org/10.1016/j.braindev.2019.12.003Test

المؤلفون: Akio Kihara, Tadashi Kaname, Masahiro Kawaguchi, Yusuke Okuno, Kohji Kato, Hideki Muramatsu, Tomohiko Nakata, Hiroyuki Yamamoto, Hiroyuki Kidokoro, Jun Natsume, Takayuki Sassa

المصدر: Brain and Development. 42:217-221

مصطلحات موضوعية: medicine.medical_specialty, Spastic gait, Neurodegeneration with brain iron accumulation, Hereditary spastic paraplegia, Neurodegeneration, Leukodystrophy, General Medicine, Biology, medicine.disease, Compound heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Developmental Neuroscience, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Missense mutation, Neurology (clinical), 030217 neurology & neurosurgery, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::59f1f169d1e6f9a51bb88ca99dc64f85Test
https://doi.org/10.1016/j.braindev.2019.11.006Test

المؤلفون: Yumiko Kasugai, Shinichiro Nakada, Takuya Ichimura, Mutsumi Yamane, Yoshiyuki Takahashi, Katsushi Tokunaga, Keitaro Matsuo, Kotaro Yuge, Hideki Muramatsu, Masao Nagasaki, Seiji Kito, Yuichiro Hara, Koichiro Higasa, Naomichi Matsumoto, Motoharu Hamada, Tomoo Ogi, Takayoshi Suganami, Yuko Kotani, Hirotoshi Sakaguchi, Yusuke Okuno, Shuichi Ozono, Norisato Mitsutake, Yosuke Kawai, Toshiro Kawakita, Yasuyoshi Oka, Fumihiko Matsuda, Taichi Hirano, Noriko Miyake, Yoriko Watanabe, Mayuko Shimada, Miyako Tanaka, Honoka Takeshima, Keiichi Isoyama, Hideo Kaneko, Tomoji Mashimo, Seiji Mizuno, Katsuhiro Hanada, Yuka Nakazawa, Masafumi Onodera, Kohji Kato, Seiji Kojima

المصدر: Science Advances. 6

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Multidisciplinary, biology, DNA damage, Chemistry, Formaldehyde, Aldehyde dehydrogenase, Endogeny, Alcohol, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, biology.protein, Gene, 030217 neurology & neurosurgery, ALDH2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f4b54ef52b90df081647a7d6abde7ad2Test
https://doi.org/10.1126/sciadv.abd7197Test

المؤلفون: Daisuke Ieda, Tomomi Miyamoto, Makoto Nakanishi, Yutaka Negishi, Kohji Kato, Shinya Ugawa, Hisashi Oishi, Natsuko Kumamoto, Shinji Saitoh, Ichiro Miyoshi, Yoshikazu Johmura

المصدر: PLoS ONE, Vol 15, Iss 8, p e0237814 (2020)
PLoS ONE

مصطلحات موضوعية: Male, 0301 basic medicine, Embryology, 0302 clinical medicine, Neurodevelopmental disorder, Gene Editing, Genetics, Mammalian Genomics, Multidisciplinary, Genetically Modified Organisms, Brain, Animal Models, Genomics, Phenotype, Pedigree, Experimental Organism Systems, Hyperexpression Techniques, Engineering and Technology, Medicine, Epigenetics, Female, Prader-Willi syndrome, Genetic Engineering, Research Article, Biotechnology, Genetically modified mouse, Science, Transgene, Mouse Models, Bioengineering, Mice, Transgenic, Biology, Research and Analysis Methods, Frameshift mutation, Genomic Imprinting, 03 medical and health sciences, Model Organisms, Antigens, Neoplasm, Gene Expression and Vector Techniques, medicine, Animals, Humans, Clinical genetics, RNA, Messenger, Allele, Molecular Biology Techniques, Molecular Biology, Alleles, Medicine and health sciences, Molecular Biology Assays and Analysis Techniques, Genetically Modified Animals, Embryos, Body Weight, Wild type, Biology and Life Sciences, Proteins, medicine.disease, Mice, Inbred C57BL, Disease Models, Animal, HEK293 Cells, 030104 developmental biology, Gene Expression Regulation, Animal Genomics, Disorders of imprinting, Genetic Loci, Mutation, Animal Studies, Genomic imprinting, 030217 neurology & neurosurgery, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::154439506f86776083272fdf93d0b31dTest
https://doi.org/10.1371/journal.pone.0237814Test

المؤلفون: Yoshinao Wada, Yohei Iguchi, Miho Toyama, Kohji Kato, Tomoo Ogi, Nobuhiko Okamoto, Ryoichi Nakamura, Kentaro Sahashi, Kunihiko Araki, Daisuke Ito, Kensuke Hamada, Tomohiko Nakamura, Masahisa Katsuno

المصدر: Epilepsy Research. 164:106371

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Pediatrics, medicine.medical_specialty, Cerebellar Ataxia, Receptors, Cell Surface, Frameshift mutation, Pathogenesis, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Childhood absence epilepsy, Tremor, medicine, Humans, Generalized epilepsy, Cerebellar ataxia, business.industry, Parkinsonism, medicine.disease, Pedigree, 030104 developmental biology, Epilepsy, Absence, Neurology, Mutation, Mutation (genetic algorithm), Epilepsy, Generalized, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ea48b73e6181c52044865fb95d27921Test
https://doi.org/10.1016/j.eplepsyres.2020.106371Test

المؤلفون: Yuji Nakamura, Naomi Tsuchida, Yoshiyuki Takahashi, Shinji Saitoh, Kohji Kato, Naomichi Matsumoto

المصدر: PLoS ONE
PLoS ONE, Vol 14, Iss 8, p e0221482 (2019)

مصطلحات موضوعية: Male, 0301 basic medicine, Immunofluorescence, Regulator, Developmental Signaling, mTORC1, Biochemistry, Neurological Signaling, 0302 clinical medicine, Cell Signaling, Loss of Function Mutation, Medicine and Health Sciences, Post-Translational Modification, Phosphorylation, Multidisciplinary, Hyperactivation, Kinase, Neurology, Child, Preschool, Amino Acid Analysis, Medicine, Female, Cellular Structures and Organelles, Signal transduction, Signal Transduction, Research Article, Science, Immunoblotting, Molecular Probe Techniques, Nerve Tissue Proteins, Mechanistic Target of Rapamycin Complex 1, Biology, Research and Analysis Methods, Cell Line, 03 medical and health sciences, Humans, Molecular Biology Techniques, Immunoassays, Molecular Biology, Alleles, PI3K/AKT/mTOR pathway, Loss function, Molecular Biology Assays and Analysis Techniques, Epilepsy, Biology and Life Sciences, Proteins, Cell Biology, 030104 developmental biology, Neurodevelopmental Disorders, Immunologic Techniques, Cancer research, Lysosomes, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::428f90cf06bc8ad3215019cbd6b0f713Test
https://doi.org/10.1371/journal.pone.0221482Test

المؤلفون: Shinobu Fukumura, Ikumi Hori, Seiji Mizuno, Yutaka Negishi, Ayako Hattori, Daisuke Ieda, Kei Ohashi, Mie Inaba, Shinji Saitoh, Kohji Kato, Naoko Kurahashi, Koichi Maruyama

المصدر: Braindevelopment. 40(8)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, medicine.medical_specialty, Dolichocephaly, Developmental Disabilities, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Germline mutation, Developmental Neuroscience, Internal medicine, medicine, PTEN, Hamartoma, Humans, Child, biology, business.industry, Macrocephaly, PTEN Phosphohydrolase, Cancer, General Medicine, medicine.disease, Megalencephaly, 030104 developmental biology, Phenotype, Child, Preschool, Face, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, biology.protein, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c4c8a4c72a34d617c47fa65f1867baaTest
https://pubmed.ncbi.nlm.nih.gov/29752200Test