osaka hitoshi

FacultyPediatricsPediatricMedicine
Job titleProfessorWeb site

Profile

Research Keywords

    PolIII, HCAHC

Research Areas

  • Clinical internal medicine / Pediatrics

Research Activities

Papers(paper)

  • 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 Oct. 2002
  • 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 Apr. 2003
  • 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 Aug. 2003
  • 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 Dec. 2003
  • 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 Jan. 2004
  • 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 Mar. 2004
  • 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 Sep. 2004
  • 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 Nov. 2004
  • 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 Feb. 2005
  • 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 Mar. 2005
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Papers(paper)close
  • 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 Oct. 2002
  • 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 Apr. 2003
  • 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 Aug. 2003
  • 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 Dec. 2003
  • 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 Jan. 2004
  • 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 Mar. 2004
  • 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 Sep. 2004
  • 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 Nov. 2004
  • 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 Feb. 2005
  • 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 Mar. 2005
  • 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 Jan. 2006
  • 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 Oct. 2006
  • 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 Sep. 2006
  • 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 Jan. 2007
  • 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 Jun. 2006
  • 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 Jun. 2007
  • 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 Sep. 2008
  • 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 May 2008
  • 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 Jun. 2008
  • 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 May 2009
  • 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 Jun. 2010
  • 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 Oct. 2010
  • 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 Feb. 2010
  • [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 Jan. 2010
  • 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 Aug. 2010
  • 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 Jun. 2010
  • 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 Jul. 2010
  • 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 Oct. 2010
  • 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 Aug. 2010
  • 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 Jun. 2011
  • 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 Jan. 2011
  • 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 Dec. 2010
  • 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 Aug. 2011
  • 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 Jan. 2012
  • 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 Sep. 2011
  • Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency.
    Arai M, Osaka H
    Epilepsia 52 e58-61 Jul. 2011
  • 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 May 2012
  • [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 Sep. 2011
  • 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 Nov. 2011
  • 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 Aug. 2012
  • 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 Jan. 2012
  • [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 Nov. 2011
  • 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 Mar. 2012
  • 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 Jan. 2012
  • [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 Jan. 2012
  • 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 Jul. 2012
  • 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 Nov. 2012
  • 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 May 2012
  • 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 May 2012
  • 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 Apr. 2013
  • 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 Aug. 2012
  • 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 Dec. 2012
  • 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 Sep. 2012
  • 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 Jan. 2013
  • 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 Jan. 2013
  • 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 Aug. 2013
  • [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 Jan. 2013
  • 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 Mar. 2014
  • 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 Oct. 2013
  • 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 Jul. 2013
  • 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
  • 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 Sep. 2013
  • 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 Sep. 2013
  • 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 Aug. 2014
  • 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 Nov. 2013
  • 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 Dec. 2013
  • 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 Feb. 2014
  • 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 Dec. 2013
  • 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 Jan. 2014
  • 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 Mar. 2014
  • 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 Feb. 2014
  • 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 May 2014
  • 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 Apr. 2014
  • 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 Apr. 2014
  • 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
  • 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 May 2014
  • 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 Feb. 2015
  • 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 Jun. 2014
  • 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 May 2014
  • 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 Aug. 2014
  • 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 Apr. 2015
  • 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 Oct. 2014
  • 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 Feb. 2015
  • 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 Dec. 2014
  • 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 Mar. 2015
  • [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 Jan. 2015


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