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小坂 仁 オサカ ヒトシ

所属部署名小児科学講座小児医学部門
職名教授ホームページURLhttps://research-er.jp/researchers/view/139219

プロフィール

研究キーワード

    PolIII, 小胞体ストレス, 白質形成不全, 神経変性, 神経病態生化学, シャペロン, HCAHC

研究分野

  • 内科系臨床医学 / 小児科学 / 神経疾患、神経変性疾患、希少難病

経歴

  • 2011年
    地方独立行政法人神奈川県立病院機構神奈川県立がんセンター(臨床研究所)
  • 神奈川県立こども医療センター
  • 横浜栄共済病院
  • 藤沢市民病院
  • 横浜市立大学浦舟病院
  • 横浜市愛児センター
  • Univ. of California, San Diego. Dept of Pharmacology. (postdoctral Fellow)
  • 国立精神神経センター疾病研究所第四部
  • 神奈川県立こども医療センター神経内科医長
  • 科学技術振興事業団さきがけ21研究者(情報と細胞機能)
  • 神奈川県立こども医療センター神経内科部長
  • 自治医科大学小児科学教授

学位

  • 医学博士

研究活動

論文

  • Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.
    Inoue K, Osaka H, Thurston VC, Clarke JT, Yoneyama A, Rosenbarker L, Bird TD, Hodes ME, Shaffer LG, Lupski JR
    American journal of human genetics 71 838-853 2002年10月
  • Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variants.
    Nishikawa K, Li H, Kawamura R, Osaka H, Wang YL, Hara Y, Hirokawa T, Manago Y, Amano T, Noda M, Aoki S, Wada K
    Biochemical and biophysical research communications 304 176-183 2003年04月
  • Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron.
    Osaka H, Wang YL, Takada K, Takizawa S, Setsuie R, Li H, Sato Y, Nishikawa K, Sun YJ, Sakurai M, Harada T, Hara Y, Kimura I, Chiba S, Namikawa K, Kiyama H, Noda M, Aoki S, Wada K
    Human molecular genetics 12 1945-1958 2003年08月
  • Nicotinic acetylcholine receptor distribution in relation to spinal neurotransmission pathways.
    Khan I, Osaka H, Stanislaus S, Calvo RM, Deerinck T, Yaksh TL, Taylor P
    The Journal of comparative neurology 467 44-59 2003年12月
  • Role of ubiquitin carboxy terminal hydrolase-L1 in neural cell apoptosis induced by ischemic retinal injury in vivo.
    Harada T, Harada C, Wang YL, Osaka H, Amanai K, Tanaka K, Takizawa S, Setsuie R, Sakurai M, Sato Y, Noda M, Wada K
    The American journal of pathology 164 59-64 2004年01月
  • Proteomic analysis of brain proteins in the gracile axonal dystrophy (gad) mouse, a syndrome that emanates from dysfunctional ubiquitin carboxyl-terminal hydrolase L-1, reveals oxidation of key proteins.
    Castegna A, Thongboonkerd V, Klein J, Lynn BC, Wang YL, Osaka H, Wada K, Butterfield DA
    Journal of neurochemistry 88 1540-1546 2004年03月
  • Accumulation of beta- and gamma-synucleins in the ubiquitin carboxyl-terminal hydrolase L1-deficient gad mouse.
    Wang YL, Takeda A, Osaka H, Hara Y, Furuta A, Setsuie R, Sun YJ, Kwon J, Sato Y, Sakurai M, Noda M, Yoshikawa Y, Wada K
    Brain research 1019 1-9 2004年09月
  • Retinoic acid induces neuroblastoma cell death by inhibiting proteasomal degradation of retinoic acid receptor alpha.
    Nagai J, Yazawa T, Okudela K, Kigasawa H, Kitamura H, Osaka H
    Cancer research 64 7910-7917 2004年11月
  • The slow Wallerian degeneration gene, WldS, inhibits axonal spheroid pathology in gracile axonal dystrophy mice.
    Mi W, Beirowski B, Gillingwater TH, Adalbert R, Wagner D, Grumme D, Osaka H, Conforti L, Arnhold S, Addicks K, Wada K, Ribchester RR, Coleman MP
    Brain : a journal of neurology 128 405-416 2005年02月
  • Potentiation of ATP-induced currents due to the activation of P2X receptors by ubiquitin carboxy-terminal hydrolase L1.
    Manago Y, Kanahori Y, Shimada A, Sato A, Amano T, Sato-Sano Y, Setsuie R, Sakurai M, Aoki S, Wang YL, Osaka H, Wada K, Noda M
    Journal of neurochemistry 92 1061-1072 2005年03月
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  • Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.
    Inoue K, Osaka H, Thurston VC, Clarke JT, Yoneyama A, Rosenbarker L, Bird TD, Hodes ME, Shaffer LG, Lupski JR
    American journal of human genetics 71 838-853 2002年10月
  • Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variants.
    Nishikawa K, Li H, Kawamura R, Osaka H, Wang YL, Hara Y, Hirokawa T, Manago Y, Amano T, Noda M, Aoki S, Wada K
    Biochemical and biophysical research communications 304 176-183 2003年04月
  • Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron.
    Osaka H, Wang YL, Takada K, Takizawa S, Setsuie R, Li H, Sato Y, Nishikawa K, Sun YJ, Sakurai M, Harada T, Hara Y, Kimura I, Chiba S, Namikawa K, Kiyama H, Noda M, Aoki S, Wada K
    Human molecular genetics 12 1945-1958 2003年08月
  • Nicotinic acetylcholine receptor distribution in relation to spinal neurotransmission pathways.
    Khan I, Osaka H, Stanislaus S, Calvo RM, Deerinck T, Yaksh TL, Taylor P
    The Journal of comparative neurology 467 44-59 2003年12月
  • Role of ubiquitin carboxy terminal hydrolase-L1 in neural cell apoptosis induced by ischemic retinal injury in vivo.
    Harada T, Harada C, Wang YL, Osaka H, Amanai K, Tanaka K, Takizawa S, Setsuie R, Sakurai M, Sato Y, Noda M, Wada K
    The American journal of pathology 164 59-64 2004年01月
  • Proteomic analysis of brain proteins in the gracile axonal dystrophy (gad) mouse, a syndrome that emanates from dysfunctional ubiquitin carboxyl-terminal hydrolase L-1, reveals oxidation of key proteins.
    Castegna A, Thongboonkerd V, Klein J, Lynn BC, Wang YL, Osaka H, Wada K, Butterfield DA
    Journal of neurochemistry 88 1540-1546 2004年03月
  • Accumulation of beta- and gamma-synucleins in the ubiquitin carboxyl-terminal hydrolase L1-deficient gad mouse.
    Wang YL, Takeda A, Osaka H, Hara Y, Furuta A, Setsuie R, Sun YJ, Kwon J, Sato Y, Sakurai M, Noda M, Yoshikawa Y, Wada K
    Brain research 1019 1-9 2004年09月
  • Retinoic acid induces neuroblastoma cell death by inhibiting proteasomal degradation of retinoic acid receptor alpha.
    Nagai J, Yazawa T, Okudela K, Kigasawa H, Kitamura H, Osaka H
    Cancer research 64 7910-7917 2004年11月
  • The slow Wallerian degeneration gene, WldS, inhibits axonal spheroid pathology in gracile axonal dystrophy mice.
    Mi W, Beirowski B, Gillingwater TH, Adalbert R, Wagner D, Grumme D, Osaka H, Conforti L, Arnhold S, Addicks K, Wada K, Ribchester RR, Coleman MP
    Brain : a journal of neurology 128 405-416 2005年02月
  • Potentiation of ATP-induced currents due to the activation of P2X receptors by ubiquitin carboxy-terminal hydrolase L1.
    Manago Y, Kanahori Y, Shimada A, Sato A, Amano T, Sato-Sano Y, Setsuie R, Sakurai M, Aoki S, Wang YL, Osaka H, Wada K, Noda M
    Journal of neurochemistry 92 1061-1072 2005年03月
  • Overexpression of ubiquitin carboxyl-terminal hydrolase L1 arrests spermatogenesis in transgenic mice.
    Wang YL, Liu W, Sun YJ, Kwon J, Setsuie R, Osaka H, Noda M, Aoki S, Yoshikawa Y, Wada K
    Molecular reproduction and development 73 40-49 2006年01月
  • Parkin potentiates ATP-induced currents due to activation of P2X receptors in PC12 cells.
    Sato A, Arimura Y, Manago Y, Nishikawa K, Aoki K, Wada E, Suzuki Y, Osaka H, Setsuie R, Sakurai M, Amano T, Aoki S, Wada K, Noda M
    Journal of cellular physiology 209 172-182 2006年10月
  • Solo/Trio8, a membrane-associated short isoform of Trio, modulates endosome dynamics and neurite elongation.
    Sun YJ, Nishikawa K, Yuda H, Wang YL, Osaka H, Fukazawa N, Naito A, Kudo Y, Wada K, Aoki S
    Molecular and cellular biology 26 6923-6935 2006年09月
  • Dopaminergic neuronal loss in transgenic mice expressing the Parkinson's disease-associated UCH-L1 I93M mutant.
    Setsuie R, Wang YL, Mochizuki H, Osaka H, Hayakawa H, Ichihara N, Li H, Furuta A, Sano Y, Sun YJ, Kwon J, Kabuta T, Yoshimi K, Aoki S, Mizuno Y, Noda M, Wada K
    Neurochemistry international 50 119-129 2007年01月
  • Vaccination and infection as causative factors in Japanese patients with Rasmussen syndrome: molecular mimicry and HLA class I.
    Takahashi Y, Matsuda K, Kubota Y, Shimomura J, Yamasaki E, Kudo T, Fukushima K, Osaka H, Akasaka N, Imamura A, Yamada S, Kondo N, Fujiwara T
    Clinical & developmental immunology 13 381-387 2006年06月
  • Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
    Osaka H, Ogiwara I, Mazaki E, Okamura N, Yamashita S, Iai M, Yamada M, Kurosawa K, Iwamoto H, Yasui-Furukori N, Kaneko S, Fujiwara T, Inoue Y, Yamakawa K
    Epilepsy research 75 46-51 2007年06月
  • Discrepancy between auditory brainstem responses, auditory steady-state responses, and auditory behavior in two patients with Pelizaeus-Merzbacher disease.
    Tanaka M, Hamano S, Sakata H, Adachi N, Kaga K, Osaka H, Kurosawa K
    Auris, nasus, larynx 35 404-407 2008年09月
  • Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter.
    Tohyama J, Akasaka N, Osaka H, Maegaki Y, Kato M, Saito N, Yamashita S, Ohno K
    Brain & development 30 349-355 2008年05月
  • De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
    Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N
    Nature genetics 40 782-788 2008年06月
  • Proteomic and histochemical analysis of proteins involved in the dying-back-type of axonal degeneration in the gracile axonal dystrophy (gad) mouse.
    Goto A, Wang YL, Kabuta T, Setsuie R, Osaka H, Sawa A, Ishiura S, Wada K
    Neurochemistry international 54 330-338 2009年05月
  • Nationwide survey (incidence, clinical course, prognosis) of Rasmussen's encephalitis.
    Muto A, Oguni H, Takahashi Y, Shirasaka Y, Sawaishi Y, Yano T, Hoshida T, Osaka H, Nakasu S, Akasaka N, Sugai K, Miyamoto A, Takahashi S, Suzuki M, Ohmori I, Nabatame S, Osawa M
    Brain & development 32 445-453 2010年06月
  • Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation.
    Osaka H, Koizume S, Aoyama H, Iwamoto H, Kimura S, Nagai J, Kurosawa K, Yamashita S
    Brain & development 32 703-707 2010年10月
  • A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
    Tsuji M, Aida N, Obata T, Tomiyasu M, Furuya N, Kurosawa K, Errami A, Gibson KM, Salomons GS, Jakobs C, Osaka H
    Journal of inherited metabolic disease 33 85-90 2010年02月
  • [Care continuity for patients with tuberous sclerosis complex (TSC) during transition from childhood to adulthood].
    Kiyoko S, Hitoshi O
    Nihon rinsho. Japanese journal of clinical medicine 68 136-140 2010年01月
  • 1p36 deletion syndrome associated with Prader-Willi-like phenotype.
    Tsuyusaki Y, Yoshihashi H, Furuya N, Adachi M, Osaka H, Yamamoto K, Kurosawa K
    Pediatrics international : official journal of the Japan Pediatric Society 52 547-550 2010年08月
  • Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
    Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N
    American journal of human genetics 86 881-891 2010年06月
  • Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.
    Nakayama T, Ogiwara I, Ito K, Kaneda M, Mazaki E, Osaka H, Ohtani H, Inoue Y, Fujiwara T, Uematsu M, Haginoya K, Tsuchiya S, Yamakawa K
    Human mutation 31 820-829 2010年07月
  • Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.
    Natsuga K, Nishie W, Shinkuma S, Arita K, Nakamura H, Ohyama M, Osaka H, Kambara T, Hirako Y, Shimizu H
    Human mutation 31 E1687-98 2010年10月
  • Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.
    Osaka H, Hamanoue H, Yamamoto R, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, Inoue K
    Annals of neurology 68 250-254 2010年08月
  • 5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.
    Tsuji M, Takagi A, Sameshima K, Iai M, Yamashita S, Shinbo H, Furuya N, Kurosawa K, Osaka H
    Brain & development 33 521-524 2011年06月
  • A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract.
    Sato I, Onuma A, Goto N, Sakai F, Fujiwara I, Uematsu M, Osaka H, Okahashi S, Nonaka I, Tanaka S, Haginoya K
    Journal of the neurological sciences 300 179-181 2011年01月
  • STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
    Saitsu H, Kato M, Okada I, Orii KE, Higuchi T, Hoshino H, Kubota M, Arai H, Tagawa T, Kimura S, Sudo A, Miyama S, Takami Y, Watanabe T, Nishimura A, Nishiyama K, Miyake N, Wada T, Osaka H, Kondo N, Hayasaka K, Matsumoto N
    Epilepsia 51 2397-2405 2010年12月
  • Acute encephalopathy in two cases with severe congenital hydrocephalus.
    Tanoue K, Matsui K, Ohshiro A, Yamamoto A, Hayashi T, Fujimoto J, Osaka H
    Brain & development 33 616-619 2011年08月
  • Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia.
    Tsuyusaki Y, Shimbo H, Wada T, Iai M, Tsuji M, Yamashita S, Aida N, Kure S, Osaka H
    Brain & development 34 72-75 2012年01月
  • Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing.
    Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, Matsumoto N, Miyake N
    Journal of medical genetics 48 606-609 2011年09月
  • Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency.
    Arai M, Osaka H
    Epilepsia 52 e58-61 2011年07月
  • A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5.
    Saitsu H, Osaka H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Matsumoto N
    Brain & development 34 364-367 2012年05月
  • [Three children with Rasmussen encephalitis showing marked improvement in daily life activity following the functional hemispherectomy].
    Shioda M, Oguni H, Ito Y, Ochiai T, Hori T, Muto A, Takahashi S, Miyamoto A, Osaka H, Osawa M
    No to hattatsu. Brain and development 43 373-377 2011年09月
  • Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.
    Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N
    American journal of human genetics 89 644-651 2011年11月
  • A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes.
    Wada T, Shimbo H, Osaka H
    Amino acids 43 993-997 2012年08月
  • Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).
    Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N
    American journal of medical genetics. Part A 158A 199-205 2012年01月
  • [Congenital cerebral hypomyelination---Pelizaeus-Merzbacher disease and associated disorders].
    Inoue K, Iwaki A, Kurosawa K, Takanashi J, Deguchi K, Yamamoto T, Osaka H
    No to hattatsu. Brain and development 43 435-442 2011年11月
  • Acute hemicerebellitis in a pediatric patient: a case report of a serial MR spectroscopy study.
    Tomiyasu M, Aida N, Mitani T, Wada T, Obata T, Osaka H
    Acta radiologica (Stockholm, Sweden : 1987) 53 223-227 2012年03月
  • De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.
    Yoneda Y, Haginoya K, Arai H, Yamaoka S, Tsurusaki Y, Doi H, Miyake N, Yokochi K, Osaka H, Kato M, Matsumoto N, Saitsu H
    American journal of human genetics 90 86-90 2012年01月
  • [Clinical characteristics of acute encephalopathies associated with influenza H1N1-2009 in children].
    Watanabe Y, Tsuji M, Sameshima K, Wada T, Iai M, Yamashita S, Hayashi T, Aida N, Osaka H
    No to hattatsu. Brain and development 44 35-40 2012年01月
  • HIF2α-Sp1 interaction mediates a deacetylation-dependent FVII-gene activation under hypoxic conditions in ovarian cancer cells.
    Koizume S, Ito S, Miyagi E, Hirahara F, Nakamura Y, Sakuma Y, Osaka H, Takano Y, Ruf W, Miyagi Y
    Nucleic acids research 40 5389-5401 2012年07月
  • Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.
    Tanigawa J, Kaneko K, Honda M, Harashima H, Murayama K, Wada T, Takano K, Iai M, Yamashita S, Shimbo H, Aida N, Ohtake A, Osaka H
    Brain & development 34 861-865 2012年11月
  • Effect of curcumin in a mouse model of Pelizaeus-Merzbacher disease.
    Yu LH, Morimura T, Numata Y, Yamamoto R, Inoue N, Antalfy B, Goto Y, Deguchi K, Osaka H, Inoue K
    Molecular genetics and metabolism 106 108-114 2012年05月
  • Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness.
    Osaka H, Takagi A, Tsuyusaki Y, Wada T, Iai M, Yamashita S, Shimbo H, Saitsu H, Salomons GS, Jakobs C, Aida N, Toshihiro S, Kuhara T, Matsumoto N
    Molecular genetics and metabolism 106 43-47 2012年05月
  • Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2.
    Yamashita S, Miyake N, Matsumoto N, Osaka H, Iai M, Aida N, Tanaka Y
    Brain & development 35 312-316 2013年04月
  • CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
    Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N
    Epilepsia 53 1441-1449 2012年08月
  • Monitoring the brain metabolites of children with acute encephalopathy caused by the H1N1 virus responsible for the 2009 influenza pandemic: a quantitative in vivo 1H MR spectroscopy study.
    Tomiyasu M, Aida N, Watanabe Y, Mori K, Endo K, Kusakiri K, Kershaw J, Obata T, Osaka H
    Magnetic resonance imaging 30 1527-1533 2012年12月
  • Idiopathic cranial polyneuropathy with unilateral IX and X and contralateral XI nerve palsy in a 4-year-old boy.
    Yoshihara N, Okuda M, Takano K, Wada T, Osaka H
    Pediatric neurology 47 198-200 2012年09月
  • Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
    Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H
    Annals of neurology 73 48-57 2013年01月
  • A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia.
    Kimura-Ohba S, Kagitani-Shimono K, Hashimoto N, Nabatame S, Okinaga T, Murakami A, Miyake N, Matsumoto N, Osaka H, Hojo K, Tomita R, Taniike M, Ozono K
    American journal of medical genetics. Part A 161A 203-207 2013年01月
  • A child with three episodes of reversible splenial lesion.
    Kouga T, Iai M, Yamashita S, Aida N, Takanashi J, Osaka H
    Neuropediatrics 44 199-202 2013年08月
  • [An 8-year-old boy with anti-NMDA receptor encephalitis, successfully treated with cyclophosphamide].
    Mitani T, Ohtsuka Y, Yamamoto K, Watanabe Y, Tsuji M, Samejima K, Aida N, Sato T, Wada T, Osaka H
    No to hattatsu. Brain and development 45 53-57 2013年01月
  • Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.
    Takanashi J, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M, Nomura Y, Terao Y, Inoue K, Matsumoto N, Barkovich AJ
    Brain & development 36 259-263 2014年03月
  • Transient ischemic attack-like episodes without stroke-like lesions in MELAS.
    Mitani T, Aida N, Tomiyasu M, Wada T, Osaka H
    Pediatric radiology 43 1400-1403 2013年10月
  • Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
    Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG
    American journal of human genetics 93 6-18 2013年07月
  • A Japanese adult case of guanidinoacetate methyltransferase deficiency.
    Akiyama T, Osaka H, Shimbo H, Nakajiri T, Kobayashi K, Oka M, Endoh F, Yoshinaga H
    JIMD reports 12 65-69 2014年
  • Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
    Nakamura K, Kato M, Osaka H, Yamashita S, Nakagawa E, Haginoya K, Tohyama J, Okuda M, Wada T, Shimakawa S, Imai K, Takeshita S, Ishiwata H, Lev D, Lerman-Sagie T, Cervantes-Barragán DE, Villarroel CE, Ohfu M, Writzl K, Gnidovec Strazisar B, Hirabayashi S, Chitayat D, Myles Reid D, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Matsumoto N, Saitsu H
    Neurology 81 992-998 2013年09月
  • De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
    Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama J, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, Matsumoto N, Saitsu H
    American journal of human genetics 93 496-505 2013年09月
  • Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8.
    Kato H, Miyake F, Shimbo H, Ohya M, Sugawara H, Aida N, Anzai R, Takagi M, Okuda M, Takano K, Wada T, Iai M, Yamashita S, Osaka H
    Brain & development 36 630-633 2014年08月
  • Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
    Ohba C, Osaka H, Iai M, Yamashita S, Suzuki Y, Aida N, Shimozawa N, Takamura A, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Eto Y, Tanaka F, Matsumoto N, Saitsu H
    Neurogenetics 14 225-232 2013年11月
  • Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2.
    Matsufuji M, Osaka H, Gotoh L, Shimbo H, Takashima S, Inoue K
    Pediatric neurology 49 477-481 2013年12月
  • A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
    Imagawa E, Osaka H, Yamashita A, Shiina M, Takahashi E, Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, Matsumoto N, Miyake N
    Human genetics 133 225-234 2014年02月
  • De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
    Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H
    Human mutation 34 1708-1714 2013年12月
  • A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia.
    Ohshiro-Sasaki A, Shimbo H, Takano K, Wada T, Osaka H
    Pediatric neurology 50 99-100 2014年01月
  • A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
    Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, Fujikawa S, Akasaka M, Iwata N, Kawakita A, Funatsuka M, Shintaku H, Ohara O, Ichinose H, Heike T
    Rheumatology (Oxford, England) 53 448-458 2014年03月
  • PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.
    Nakamura K, Osaka H, Murakami Y, Anzai R, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Kinoshita T, Matsumoto N, Saitsu H
    Epilepsia 55 e13-7 2014年02月
  • Early magnetic resonance detection of cortical necrosis and acute network injury associated with neonatal and infantile cerebral infarction.
    Okabe T, Aida N, Niwa T, Nozawa K, Shibasaki J, Osaka H
    Pediatric radiology 44 597-604 2014年05月
  • Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.
    Numata Y, Gotoh L, Iwaki A, Kurosawa K, Takanashi J, Deguchi K, Yamamoto T, Osaka H, Inoue K
    Journal of neurology 261 752-758 2014年04月
  • A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease.
    Wada T, Haddad MR, Yi L, Murakami T, Sasaki A, Shimbo H, Kodama H, Osaka H, Kaler SG
    Pediatric neurology 50 417-420 2014年04月
  • Posterior-predominant leukoencephalopathy which was caused by methylenetetrahydrofolate reductase deficiency and successfully treated with folic acid.
    Tamura A, Sasaki R, Kagawa K, Nakatani K, Osaka H, Tomimoto H
    Rinsho shinkeigaku = Clinical neurology 54 200-206 2014年
  • PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.
    Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N
    Neurology 82 1587-1596 2014年05月
  • Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome.
    Kouga T, Shimbo H, Iai M, Yamashita S, Ishii A, Ihara Y, Hirose S, Yamakawa K, Osaka H
    Brain & development 37 243-249 2015年02月
  • Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
    Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima M, Tsurusaki Y, Miyake N, Ogata K, Matsumoto N, Saitsu H
    Neurology 82 2230-2237 2014年06月
  • Involvement of ER stress in dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 missense mutations shown by iPSC-derived oligodendrocytes.
    Numasawa-Kuroiwa Y, Okada Y, Shibata S, Kishi N, Akamatsu W, Shoji M, Nakanishi A, Oyama M, Osaka H, Inoue K, Takahashi K, Yamanaka S, Kosaki K, Takahashi T, Okano H
    Stem cell reports 2 648-661 2014年05月
  • Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
    Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
    Journal of human genetics 59 471-474 2014年08月
  • Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy.
    Tamaura M, Shimbo H, Iai M, Yamashita S, Osaka H
    Brain & development 37 442-445 2015年04月
  • A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.
    Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, Iai M, Yamashita S, Okabe T, Aida N, Tsurusaki Y, Saitsu H, Matsumoto N, Osaka H
    Brain & development 2014年10月
  • Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
    Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Matsumoto N
    Journal of human genetics 60 97-101 2015年02月
  • Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly.
    Niwa T, Aida N, Osaka H, Wada T, Saitsu H, Imai Y
    Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine 2014年12月
  • Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
    Sasaki M, Ohba C, Iai M, Hirabayashi S, Osaka H, Hiraide T, Saitsu H, Matsumoto N
    Journal of neurology 2015年03月
  • [A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].
    Nozaki F, Kumada T, Shibata M, Fujii T, Wada T, Osaka H
    No to hattatsu. Brain and development 47 49-52 2015年01月


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