| Title | Authors (identified) | Published In | Identifier(s) | Topic | Published Date | Match? |
|---|
| Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype | [1]Yuiko Hasegawa, [2]Eriko Nishi, [3]Yuko Mishima, [4]Tomohiro Sakaguchi, [5]Futoshi Sekiguchi, [6]Noriko Miyake, [7]Karin Kojima, [8]Hitoshi Osaka, [9]Naomichi Matsumoto, [10]Nobuhiko Okamoto [Full author list] | Brain and Development [missing] | DOI: 10.1016/J.BRAINDEV.2021.07.002 [ORCID]
| aromatic L-amino acid decarboxylase deficiency [missing] | 2021-09-02 | Hitoshi Osaka (Q63931227; 13 items)
|
| Intellectual disability and microcephaly associated with a novel CHAMP1 mutation | [1]Yuta Asakura, [2]Hitoshi Osaka, [3]Hiromi Aoi, [4]Takeshi Mizuguchi, [5]Naomichi Matsumoto, [6]Takanori Yamagata [Full author list] | Human Genome Variation [missing] | DOI: 10.1038/S41439-021-00165-7 [ORCID]
PubMed: 34404773 [ORCID]
| microcephaly [missing]; disability affecting intellectual abilities [missing] | 2021-08-17 | Hitoshi Osaka (Q63931227; 13 items)
|
| Gene therapy in a mouse model of Niemann-Pick disease type C1 | [1]Yoshie Kurokawa, [2]Hitoshi Osaka, [3]Takeshi Kouga, [4]Eriko Jimbo, [5]Kazuhiro Muramatsu, [6]Sachie Nakamura, [7]Yuki Takayanagi, [8]Tatsushi Onaka, [9]Shin-Ichi Muramatsu, [10]Takanori Yamagata [Full author list] | Human Gene Therapy [missing] | DOI: 10.1089/HUM.2020.175 [ORCID]
PubMed: 33256498 [ORCID]
| Niemann-Pick disease [missing]; Niemann-Pick disease, type C1 [missing] | 2020-11-30 | Hitoshi Osaka (Q63931227; 13 items)
|
| Gallbladder cancer with ascites in a child with metachromatic leukodystrophy | [1]Kiri Koshu, [2]Takahiro Ikeda, [3]Daisuke Tamura, [4]Kazuhiro Muramatsu, [5]Hitoshi Osaka, [6]Shigeru Ono, [7]Kaori Adachi, [8]Eiji Nanba, [9]Takero Nakajima, [10]Takanori Yamagata [Full author list] | Brain and Development [missing] | DOI: 10.1016/J.BRAINDEV.2020.08.002 [ORCID]
PubMed: 32855001 [ORCID]
| gallbladder cancer [missing]; metachromatic leukodystrophy [missing] | 2020-08-24 | Hitoshi Osaka (Q63931227; 13 items)
|
| MOG-Ab titer-guided approach for steroid tapering to prevent relapse in children with mog antibody-associated adem diseases: A case report | [1]Koyuru Kurane, [2]Yukifumi Monden, [3]Daisuke Tanaka, [4]Yuji Gunji, [5]Takahiro Ikeda, [6]Akihiko Miyauchi, [7]Hitoshi Osaka, [8]Toshiyuki Takahashi, [9]Takanori Yamagata [Full author list] | | DOI: 10.1016/J.MSARD.2020.102320 [ORCID]
PubMed: 32622298 [ORCID]
| | 2020-06-20 | Hitoshi Osaka (Q63931227; 13 items)
|
| Serum and cerebrospinal fluid cytokines in children with acute encephalopathy | [1]Yuta Kawahara, [2]Akira Morimoto, [3]Yukiko Oh, [4]Rieko Furukawa, [5]Kei Wakabayashi, [6]Yukifumi Monden, [7]Hitoshi Osaka, [8]Takanori Yamagata [Full author list] | Brain and Development [missing] | DOI: 10.1016/J.BRAINDEV.2019.11.002 [ORCID]
PubMed: 31787380 [ORCID]
| | 2019-11-29 | Hitoshi Osaka (Q63931227; 13 items)
|
| Probiotics Prevents Sensitization to Oral Antigen and Subsequent Increases in Intestinal Tight Junction Permeability in Juvenile-Young Adult Rats | [1]Janyerkye Tulyeu, [2]Hideki Kumagai, [3]Eriko Jimbo, [4]Shinya Watanabe, [5]Koji Yokoyama, [6]Longzhu Cui, [7]Hitoshi Osaka, [8]Makiko Mieno, [9]Takanori Yamagata [Full author list] | Microorganisms [missing] | DOI: 10.3390/MICROORGANISMS7100463 [ORCID]
PubMed: 31623229 [ORCID]
| probiotics [missing] | 2019-10-16 | |
| Drug screening for Pelizaeus-Merzbacher disease by quantifying the total levels and membrane localization of PLP1 | [1]Takeshi Kouga, [2]Shiro Koizume, [3]Shiho Aoki, [4]Eriko Jimbo, [5]Takanori Yamagata, [6]Ken Inoue, [7]Hitoshi Osaka [Full author list] | Molecular Genetics and Metabolism Reports [missing] | DOI: 10.1016/J.YMGMR.2019.100474 [ORCID]
PubMed: 31110947 [ORCID]
| membrane protein [missing]; oligodendrocyte [missing]; Pelizaeus-Merzbacher disease [missing]; drug screening [missing] | 2019-09-01 | Hitoshi Osaka (Q63931227; 13 items)
|
| A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination | [1]Sachiko Miyamoto, [2]Mitsuko Nakashima, [3]Tsukasa Ohashi, [4]Takuya Hiraide, [5]Kenji Kurosawa, [6]Toshiyuki Yamamoto, [7]Jun-ichi Takanashi, [8]Hitoshi Osaka, [9]Ken Inoue, [10]Takehiro Miyazaki, [11]Yoshinao Wada, [12]Nobuhiko Okamoto, [13]Hirotomo Saitsu [Full author list] | Molecular genetics & genomic medicine [missing] | DOI: 10.1002/MGG3.814 [ORCID]
PubMed: 31231989 [ORCID]
| myelination [missing] | 2019-06-23 | Hitoshi Osaka (Q63931227; 13 items)
|
| Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency | [1]Karin Kojima, [2]Takeshi Nakajima, [3]Naoyuki Taga, [4]Akihiko Miyauchi, [5]Mitsuhiro Kato, [6]Ayumi Matsumoto, [7]Takahiro Ikeda, [8]Kazuyuki Nakamura, [9]Tetsuo Kubota, [10]Hiroaki Mizukami, [11]Sayaka Ono, [12]Yoshiyuki Onuki, [13]Toshihiko Sato, [14]Hitoshi Osaka, [15]Shin-Ichi Muramatsu, [16]Takanori Yamagata [Full author list] | Brain [missing] | DOI: 10.1093/BRAIN/AWY331 [ORCID]
PubMed: 30689738 [ORCID]
| aromatic L-amino acid decarboxylase deficiency [missing] | 2019-02-01 | Hitoshi Osaka (Q63931227; 13 items)
|
| Aggregate formation analysis of GFAPR416W found in one case of Alexander disease | [1]Janyerkye Tulyeu, [2]Moe Tamaura, [3]Eriko Jimbo, [4]Hiroko Shimbo, [5]Kyoko Takano, [6]Mizue Iai, [7]Sumimasa Yamashita, [8]Tomohide Goto, [9]Noriko Aida, [10]Etsuro Tokuhiro, [11]Takanori Yamagata, [12]Hitoshi Osaka [Full author list] | Brain and Development [missing] | DOI: 10.1016/J.BRAINDEV.2018.08.009 [ORCID]
PubMed: 30213442 [ORCID]
| Alexander disease [missing] | 2018-09-10 | Hitoshi Osaka (Q63931227; 13 items)
|
| Long-term outcomes in motor and cognitive impairment with acute encephalopathy | [1]Yuri Matsubara, [2]Hitoshi Osaka, [3]Takanori Yamagata, [4]Ryusuke Ae, [5]Jun Shimizu, [6]Noriko Oguro [Full author list] | Brain and Development [missing] | DOI: 10.1016/J.BRAINDEV.2018.05.013 [ORCID]
PubMed: 29891405 [ORCID]
| cognitive dysfunction [missing] | 2018-06-08 | Hitoshi Osaka (Q63931227; 13 items)
|
| A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP | [1]Ayumi Matsumoto, [2]Janyerkye Tulyeu, [3]Rieko Furukawa, [4]Chika Watanabe, [5]Yukifumi Monden, [6]Yasuyuki Nozaki, [7]Masato Mori, [8]Michito Namekawa, [9]Eriko F Jimbo, [10]Toshinori Aihara, [11]Takanori Yamagata, [12]Hitoshi Osaka [Full author list] | Brain and Development [missing] | DOI: 10.1016/J.BRAINDEV.2018.03.002 [ORCID]
PubMed: 29573842 [ORCID]
| Alexander disease [missing] | 2018-03-21 | Hitoshi Osaka (Q63931227; 13 items)
|
| Phenotype of GABA-transaminase deficiency | [1]Mary Kay Koenig, [2]Ryan Hodgeman, [3]James J Riviello, [4]Wendy Chung, [5]Jennifer Bain, [6]Claudia A Chiriboga, [7]Kazushi Ichikawa, [8]Hitoshi Osaka, [9]Megumi Tsuji, [10]K Michael Gibson, [11]Penelope E Bonnen, [12]Phillip L Pearl [Full author list] | Neurology [missing] | DOI: 10.1212/WNL.0000000000003936 [ORCID]
PubMed: 28411234 [ORCID]
| phenotype [missing] | 2017-04-14 | |
| Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. | [1]Mikako Enokizono, [2]Noriko Aida, [3]Tetsu Niwa, [4]Hitoshi Osaka, [5]Takuya Naruto, [6]Kenji Kurosawa, [7]Chihiro Ohba, [8]Toshifumi Suzuki, [9]Hirotomo Saitsu, [10]Tomohide Goto, [11]Naomichi Matsumoto [Full author list] | Journal of the Neurological Sciences [missing] | DOI: 10.1016/J.JNS.2017.02.065 [ORCID]
PubMed: 28431631 [ORCID]
| neuroimaging [missing]; Joubert syndrome [missing] | 2017-03-01 | Hitoshi Osaka (Q63931227; 13 items)
|
| Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome | [1]Noriko Miyake, [2]Ghada M Abdel-Salam, [3]Takanori Yamagata, [4]Maha M Eid, [5]Hitoshi Osaka, [6]Nobuhiko Okamoto, [7]Amal M Mohamed, [8]Takahiro Ikeda, [9]Hanan H. Afifi, [10]Juliette Piard, [11]Lionel van Maldergem, [12]Takeshi Mizuguchi, [13]Satoko Miyatake, [14]Yoshinori Tsurusaki, [15]Naomichi Matsumoto [Full author list] | American Journal of Medical Genetics [missing] | DOI: 10.1002/AJMG.A.37778 [ORCID]
PubMed: 27264538 [ORCID]
| | 2016-06-05 | Hitoshi Osaka (Q63931227; 13 items)
|
| Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE | [1]Takahito Wada, [2]Kyoko Takano, [3]Yoshinori Tsurusaki, [4]Noriko Miyake, [5]Mitsuko Nakashima, [6]Hirotomo Saitsu, [7]Naomichi Matsumoto, [8]Hitoshi Osaka [Full author list] | Pediatrics International [missing] | DOI: 10.1111/PED.12613 [ORCID]
PubMed: 25868953 [ORCID]
| myoclonic dystonia [missing] | 2015-04-01 | Hitoshi Osaka (Q63931227; 13 items)
|
| Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes. | [1]Yuko Numasawa-Kuroiwa, [2]Yohei Okada, [3]Shinsuke Shibata, [4]Noriyuki Kishi, [5]Wado Akamatsu, [6]Masanobu Shoji, [7]Atsushi Nakanishi, [8]Manabu Oyama, [9]Hitoshi Osaka, [10]Ken Inoue, [11]Kazutoshi Takahashi, [12]Shinya Yamanaka, [13]Kenjiro Kosaki, [14]Takao Takahashi, [15]Hideyuki Okano [Full author list] | Stem Cell Reports [missing] | DOI: 10.1016/J.STEMCR.2014.12.010 [ORCID]
| Pelizaeus-Merzbacher disease [missing] | 2015-01-13 | |
| PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. | [1]Mitsuhiro Kato, [2]Hirotomo Saitsu, [3]Yoshiko Murakami, [4]Kenjiro Kikuchi, [5]Shuei Watanabe, [6]Mizue Iai, [7]Kazushi Miya, [8]Ryuki Matsuura, [9]Rumiko Takayama, [10]Chihiro Ohba, [11]Mitsuko Nakashima, [12]Yoshinori Tsurusaki, [13]Noriko Miyake, [14]Shin-Ichiro Hamano, [15]Hitoshi Osaka, [16]Kiyoshi Hayasaka, [17]Taroh Kinoshita, [18]Naomichi Matsumoto [Full author list] | Neurology [missing] | DOI: 10.1212/WNL.0000000000000389 [ORCID]
PubMed: 24706016 [ORCID]
| | 2014-04-04 | Hitoshi Osaka (Q63931227; 13 items)
|
| Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies | [1]Yurika Numata, [2]Leo Gotoh, [3]Akiko Iwaki, [4]Kenji Kurosawa, [5]Jun-Ichi Takanashi, [6]Kimiko Deguchi, [7]Toshiyuki Yamamoto, [8]Hitoshi Osaka, [9]Ken Inoue [Full author list] | Journal of Neurology [missing] | DOI: 10.1007/S00415-014-7263-5 [ORCID]
PubMed: 24532200 [ORCID]
| | 2014-02-16 | |
| Early magnetic resonance detection of cortical necrosis and acute network injury associated with neonatal and infantile cerebral infarction | [1]Tetsuhiko Okabe, [2]Noriko Aida, [3]Tetsu Niwa, [4]Kumiko Nozawa, [5]Jun Shibasaki, [6]Hitoshi Osaka [Full author list] | Pediatric Radiology [missing] | DOI: 10.1007/S00247-013-2846-3 [ORCID]
PubMed: 24419493 [ORCID]
| cerebral infarction [missing] | 2014-01-14 | |
| A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. | [1]Junya Abe, [2]Kazuyuki Nakamura, [3]Ryuta Nishikomori, [4]Mitsuhiro Kato, [5]Noriko Mitsuiki, [6]Kazushi Izawa, [7]Tomonari Awaya, [8]Tomoki Kawai, [9]Takahiro Yasumi, [10]Itaru Toyoshima, ..., [15]Yasuhiro Suzuki, [16]Masahiro Kikuchi, [17]Hitoshi Osaka, [18]Takashi Ohya, [19]Shinya Ninomiya, ... [Full author list] | Rheumatology [missing] | DOI: 10.1093/RHEUMATOLOGY/KET372 [ORCID]
PubMed: 24300241 [ORCID]
| chilblains [missing] | 2013-12-03 | Hitoshi Osaka (Q63931227; 13 items)
|
| De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy | [1]Kazuyuki Nakamura, [2]Hirofumi Kodera, [3]Tenpei Akita, [4]Masaaki Shiina, [5]Mitsuhiro Kato, [6]Hideki Hoshino, [7]Hiroshi Terashima, [8]Hitoshi Osaka, [9]Shinichi Nakamura, [10]Jun Tohyama, ... [Full author list] | American Journal of Human Genetics [missing] | DOI: 10.1016/J.AJHG.2013.07.014 [ORCID]
PubMed: 23993195 [ORCID]
| | 2013-08-29 | Hitoshi Osaka (Q63931227; 13 items)
|
| Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly | [1]Yuriko Yoneda, [2]Kazuhiro Haginoya, [3]Mitsuhiro Kato, [4]Hitoshi Osaka, [5]Kenji Yokochi, [6]Hiroshi Arai, [7]Akiyoshi Kakita, [8]Takamichi Yamamoto, [9]Yoshiro Otsuki, [10]Shin-ichi Shimizu, ... [Full author list] | Annals of Neurology [missing] | DOI: 10.1002/ANA.23736 [ORCID]
PubMed: 23225343 [ORCID]
| | 2013-01-01 | Hitoshi Osaka (Q63931227; 13 items)
|
| [An 8-year-old boy with anti-NMDA receptor encephalitis, successfully treated with cyclophosphamide] | [1]Tadahiro Mitani, [2]Yoshimitsu Ohtsuka, [3]Kei Yamamoto, [4]Yoshihiro Watanabe, [5]Megumi Tsuji, [6]Kiyoko Samejima, [7]Noriko Aida, [8]Takeshi Sato, [9]Takahito Wada, [10]Hitoshi Osaka [Full author list] | Brain and Development [missing] | PubMed: 23593747 [ORCID]
| | 2013-01-01 | |
| A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia | [1]Shihoko Kimura-Ohba, [2]Kuriko Kagitani-Shimono, [3]Natsuko Hashimoto, [4]Shin Nabatame, [5]Takeshi Okinaga, [6]Akira Murakami, [7]Noriko Miyake, [8]Naomichi Matsumoto, [9]Hitoshi Osaka, [10]Keiko Hojo, [11]Reiko Tomita, [12]Masako Taniike, [13]Keiichi Ozono [Full author list] | American Journal of Medical Genetics [missing] | DOI: 10.1002/AJMG.A.35686 [ORCID]
PubMed: 23239615 [ORCID]
| | 2012-12-13 | Hitoshi Osaka (Q63931227; 13 items)
|
| Idiopathic cranial polyneuropathy with unilateral IX and X and contralateral XI nerve palsy in a 4-year-old boy | [1]Naoko Yoshihara, [2]Mitsuko Okuda, [3]Kyoko Takano, [4]Takahito Wada, [5]Hitoshi Osaka [Full author list] | Pediatric Neurology [missing] | DOI: 10.1016/J.PEDIATRNEUROL.2012.04.021 [ORCID]
PubMed: 22883285 [ORCID]
| | 2012-09-01 | |
| Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). | [1]Hirotomo Saitsu, [2]Hitoshi Osaka, [3]Shirou Sugiyama, [4]Kenji Kurosawa, [5]Takeshi Mizuguchi, [6]Kiyomi Nishiyama, [7]Akira Nishimura, [8]Yoshinori Tsurusaki, [9]Hiroshi Doi, [10]Noriko Miyake, [11]Naoki Harada, [12]Mitsuhiro Kato, [13]Naomichi Matsumoto [Full author list] | American Journal of Medical Genetics [missing] | DOI: 10.1002/AJMG.A.34363 [ORCID]
PubMed: 22106086 [ORCID]
| infantile epileptic encephalopathy [missing] | 2011-11-21 | Hitoshi Osaka (Q63931227; 13 items)
|
| [Congenital cerebral hypomyelination---Pelizaeus-Merzbacher disease and associated disorders] | [1]Ken Inoue, [2]Akiko Iwaki, [3]Kenji Kurosawa, [4]Jun-ichi Takanashi, [5]Kimiko Deguchi, [6]Toshiyuki Yamamoto, [7]Hitoshi Osaka [Full author list] | Brain and Development [missing] | PubMed: 22180957 [ORCID]
| | 2011-11-01 | |
| STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern | [1]Hirotomo Saitsu, [2]Mitsuhiro Kato, [3]Ippei Okada, [4]Kenji E Orii, [5]Tsukasa Higuchi, [6]Hideki Hoshino, [7]Masaya Kubota, [8]Hiroshi Arai, [9]Tetsuzo Tagawa, [10]Shigeru Kimura, ..., [17]Noriko Miyake, [18]Takahito Wada, [19]Hitoshi Osaka, [20]Naomi Kondo, [21]Kiyoshi Hayasaka, ... [Full author list] | Epilepsia [missing] | DOI: 10.1111/J.1528-1167.2010.02728.X [ORCID]
PubMed: 20887364 [ORCID]
| infantile epileptic encephalopathy [missing] | 2010-09-30 | Hitoshi Osaka (Q63931227; 13 items)
|
| Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease. | [1]Hitoshi Osaka, [2]Haruka Hamanoue, [3]Ryoko Yamamoto, [4]Atsuo Nezu, [5]Megumi Sasaki, [6]Hirotomo Saitsu, [7]Kenji Kurosawa, [8]Hiroko Shimbo, [9]Naomichi Matsumoto, [10]Ken Inoue [Full author list] | Annals of Neurology [missing] | DOI: 10.1002/ANA.22022 [ORCID]
PubMed: 20695017 [ORCID]
| | 2010-08-01 | Hitoshi Osaka (Q63931227; 13 items)
|