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Items: 1 to 50 of 182

1.

Neurochemistry evaluated by MR spectroscopy in a patient with xeroderma pigmentosum group A.

Yokota K, Sano K, Murofushi Y, Yoshimaru D, Takanashi JI.

Brain Dev. 2018 Nov;40(10):931-933. doi: 10.1016/j.braindev.2018.06.013. Epub 2018 Jul 13.

PMID:
30017720
2.

Loss of myelinated axons and astrocytosis in an autopsy case of acute encephalopathy with biphasic seizures and late reduced diffusion.

Takanashi JI, Yasukawa K, Murofushi Y, Masunaga A, Sakuma H, Hayashi M.

Brain Dev. 2018 Nov;40(10):947-951. doi: 10.1016/j.braindev.2018.06.004.

PMID:
29929751
3.

An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.

Shimada S, Oguni H, Otani Y, Nishikawa A, Ito S, Eto K, Nakazawa T, Yamamoto-Shimojima K, Takanashi JI, Nagata S, Yamamoto T.

Brain Dev. 2018 Oct;40(9):813-818. doi: 10.1016/j.braindev.2018.05.010. Epub 2018 May 29.

PMID:
29858110
4.

Infantile traumatic brain injury with a biphasic clinical course and late reduced diffusion.

Takase N, Igarashi N, Taneichi H, Yasukawa K, Honda T, Hamada H, Takanashi JI.

J Neurol Sci. 2018 Jul 15;390:63-66. doi: 10.1016/j.jns.2018.04.010. Epub 2018 Apr 10.

PMID:
29801909
5.

Vital Signs as Predictor Factors of Intravenous Immunoglobulin Resistance in Patients With Kawasaki Disease.

Gámez-González LB, Hamada H, Cisneros Castolo M, Honda T, Yasukawa K, Takanashi JI.

Clin Pediatr (Phila). 2018 Sep;57(10):1148-1153. doi: 10.1177/0009922818759320. Epub 2018 Feb 27.

PMID:
29486579
6.

Excitotoxicity in encephalopathy associated with STEC O-157 infection.

Ishida S, Yasukawa K, Koizumi M, Abe K, Hirai N, Honda T, Sakuma H, Tada H, Takanashi JI.

Brain Dev. 2018 Apr;40(4):357-360. doi: 10.1016/j.braindev.2017.11.008. Epub 2017 Dec 14.

PMID:
29248444
7.

Prevalence and characteristics of human parechovirus and enterovirus infection in febrile infants.

Sano K, Hamada H, Hirose S, Sugiura K, Harada S, Koizumi M, Hara M, Nishijima H, Taira M, Ogura A, Ogawa T, Takanashi JI.

Pediatr Int. 2018 Feb;60(2):142-147. doi: 10.1111/ped.13467.

PMID:
29205679
8.

A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation.

Shimojima K, Higashiguchi T, Kishimoto K, Miyatake S, Miyake N, Takanashi JI, Matsumoto N, Yamamoto T.

Hum Genome Var. 2017 Nov 9;4:17051. doi: 10.1038/hgv.2017.51. eCollection 2017.

9.

[A case of anti-MOG antibody-positive multiphasic disseminated encephalomyelitis co-occurring with unilateral cerebral cortical encephalitis].

Fukushima N, Suzuki M, Ogawa R, Hayashi K, Takanashi JI, Ohashi T.

Rinsho Shinkeigaku. 2017 Nov 25;57(11):723-728. doi: 10.5692/clinicalneurol.cn-001078. Epub 2017 Oct 26. Japanese.

PMID:
29070756
10.

A new infectious encephalopathy syndrome, clinically mild encephalopathy associated with excitotoxicity (MEEX).

Hirai N, Yoshimaru D, Moriyama Y, Yasukawa K, Takanashi JI.

J Neurol Sci. 2017 Sep 15;380:27-30. doi: 10.1016/j.jns.2017.06.045. Epub 2017 Jun 29.

PMID:
28870583
11.

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

Hayashi S, Uehara DT, Tanimoto K, Mizuno S, Chinen Y, Fukumura S, Takanashi JI, Osaka H, Okamoto N, Inazawa J.

PLoS One. 2017 Aug 7;12(8):e0181791. doi: 10.1371/journal.pone.0181791. eCollection 2017.

12.

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.

Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N.

Clin Genet. 2017 Aug;92(2):180-187. doi: 10.1111/cge.12991. Epub 2017 Mar 30.

PMID:
28177126
13.

Clinically mild infantile encephalopathy associated with excitotoxicity.

Hirai N, Yoshimaru D, Moriyama Y, Honda T, Yasukawa K, Takanashi JI.

J Neurol Sci. 2017 Feb 15;373:138-141. doi: 10.1016/j.jns.2016.12.043. Epub 2016 Dec 24.

PMID:
28131171
14.

The first report of Japanese patients with asparagine synthetase deficiency.

Yamamoto T, Endo W, Ohnishi H, Kubota K, Kawamoto N, Inui T, Imamura A, Takanashi JI, Shiina M, Saitsu H, Ogata K, Matsumoto N, Haginoya K, Fukao T.

Brain Dev. 2017 Mar;39(3):236-242. doi: 10.1016/j.braindev.2016.09.010. Epub 2016 Oct 12.

PMID:
27743885
15.

A nationwide survey of pediatric acquired demyelinating syndromes in Japan.

Yamaguchi Y, Torisu H, Kira R, Ishizaki Y, Sakai Y, Sanefuji M, Ichiyama T, Oka A, Kishi T, Kimura S, Kubota M, Takanashi J, Takahashi Y, Tamai H, Natsume J, Hamano S, Hirabayashi S, Maegaki Y, Mizuguchi M, Minagawa K, Yoshikawa H, Kira J, Kusunoki S, Hara T.

Neurology. 2016 Nov 8;87(19):2006-2015. Epub 2016 Oct 14.

16.

Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report.

Sato R, Takanashi J, Tsuyusaki Y, Kato M, Saitsu H, Matsumoto N, Takahashi T.

Pediatrics. 2016 Sep;138(3). pii: e20160897. doi: 10.1542/peds.2016-0897. Epub 2016 Aug 18.

17.

Specific HLA genotypes confer susceptibility to acute necrotizing encephalopathy.

Hoshino A, Saitoh M, Miyagawa T, Kubota M, Takanashi JI, Miyamoto A, Tokunaga K, Oka A, Mizuguchi M.

Genes Immun. 2016 Sep;17(6):367-9. doi: 10.1038/gene.2016.32. Epub 2016 Jul 28.

PMID:
27467284
18.

Elevated taurine and glutamate in cerebral juvenile xanthogranuloma on MR spectroscopy.

Matsubara K, Mori H, Hirai N, Yasukawa K, Honda T, Takanashi JI.

Brain Dev. 2016 Nov;38(10):964-967. doi: 10.1016/j.braindev.2016.07.001. Epub 2016 Jul 18.

PMID:
27435377
19.

In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations.

Bamba Y, Shofuda T, Kato M, Pooh RK, Tateishi Y, Takanashi J, Utsunomiya H, Sumida M, Kanematsu D, Suemizu H, Higuchi Y, Akamatsu W, Gallagher D, Miller FD, Yamasaki M, Kanemura Y, Okano H.

Mol Brain. 2016 Jul 19;9(1):70. doi: 10.1186/s13041-016-0246-y.

20.

Activated microglia in acute encephalopathy with biphasic seizures and late reduced diffusion.

Fujita Y, Takanashi JI, Takei H, Ota S, Fujii K, Sakuma H, Hayashi M.

J Neurol Sci. 2016 Jul 15;366:91-93. doi: 10.1016/j.jns.2016.04.050. Epub 2016 Apr 30.

PMID:
27288783
21.

The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.

Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Matsuda H, Sato N.

Brain Dev. 2016 Jun;38(6):571-80. doi: 10.1016/j.braindev.2015.12.007. Epub 2016 Jan 13.

PMID:
26774704
22.

Drugs indicated for mitochondrial dysfunction as treatments for acute encephalopathy with onset of febrile convulsive status epileptics.

Omata T, Fujii K, Takanashi J, Murayama K, Takayanagi M, Muta K, Kodama K, Iida Y, Watanabe Y, Shimojo N.

J Neurol Sci. 2016 Jan 15;360:57-60. doi: 10.1016/j.jns.2015.11.043. Epub 2015 Nov 24.

23.

Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD).

Tada H, Takanashi J, Okuno H, Kubota M, Yamagata T, Kawano G, Shiihara T, Hamano S, Hirose S, Hayashi T, Osaka H, Mizuguchi M.

J Neurol Sci. 2015 Nov 15;358(1-2):62-5. doi: 10.1016/j.jns.2015.08.016. Epub 2015 Aug 12.

PMID:
26333951
24.

Disrupted glutamate-glutamine cycle in acute encephalopathy with biphasic seizures and late reduced diffusion.

Takanashi J, Mizuguchi M, Terai M, Barkovich AJ.

Neuroradiology. 2015 Nov;57(11):1163-8. doi: 10.1007/s00234-015-1573-x. Epub 2015 Aug 23.

PMID:
26298309
25.

Neurochemistry of Hypomyelination Investigated with MR Spectroscopy.

Takanashi J.

Magn Reson Med Sci. 2015;14(2):85-91. Review.

PMID:
26185828
26.

Intraoperative monitoring during decompression of the spinal cord and spinal nerves using transcranial motor-evoked potentials: The law of twenty percent.

Tanaka S, Hirao J, Oka H, Akimoto J, Takanashi J, Yamada J.

J Clin Neurosci. 2015 Sep;22(9):1403-7. doi: 10.1016/j.jocn.2015.03.011. Epub 2015 Jun 30.

PMID:
26142049
27.

Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.

Takeuchi A, Okamoto N, Fujinaga S, Morita H, Shimizu J, Akiyama T, Ninomiya S, Takanashi J, Kubo T.

Eur J Med Genet. 2015 Aug;58(8):369-71. doi: 10.1016/j.ejmg.2015.05.006. Epub 2015 Jun 19.

PMID:
26096993
28.

Clinical pictures in Pelizaeus-Merzbacher disease: a report of a case.

Miyatake C, Koizumi S, Narazaki H, Asano T, Osaka H, Kurosawa K, Takanashi J, Fujino O.

J Nippon Med Sch. 2015;82(2):74-5. doi: 10.1272/jnms.82.74. No abstract available.

29.

Comment on "delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature" by Azzolini S et al. Brain & Development 2014;36:716-720.

Yamamoto T, Takanashi J, Kurosawa K, Deguchi K, Osaka H, Inoue K.

Brain Dev. 2015 Nov;37(10):988-9. doi: 10.1016/j.braindev.2015.03.007. Epub 2015 Apr 8. No abstract available.

PMID:
25863745
30.

Clinically mild encephalitis with a reversible splenial lesion (MERS) after mumps vaccination.

Takanashi J, Shiihara T, Hasegawa T, Takayanagi M, Hara M, Okumura A, Mizuguchi M.

J Neurol Sci. 2015 Feb 15;349(1-2):226-8. doi: 10.1016/j.jns.2014.12.019. Epub 2014 Dec 18.

PMID:
25542078
31.

Diffusion-weighted MRI for early diagnosis of neonatal herpes simplex encephalitis.

Okanishi T, Yamamoto H, Hosokawa T, Ando N, Nagayama Y, Hashimoto Y, Maihara T, Goto T, Kubota T, Kawaguchi C, Yoshida H, Sugiura K, Itomi S, Ohno K, Takanashi J, Hayakawa M, Otsubo H, Okumura A.

Brain Dev. 2015 Apr;37(4):423-31. doi: 10.1016/j.braindev.2014.07.006. Epub 2014 Aug 20.

PMID:
25149136
32.

Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy.

Miyatake S, Tada H, Moriya S, Takanashi J, Hirano Y, Hayashi M, Oya Y, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.

Clin Genet. 2015 Apr;87(4):395-7. doi: 10.1111/cge.12455. Epub 2014 Sep 8. No abstract available.

PMID:
25040701
33.

Efficacy and safety of fosphenytoin for acute encephalopathy in children.

Nakazawa M, Akasaka M, Hasegawa T, Suzuki T, Shima T, Takanashi J, Yamamoto A, Ishidou Y, Kikuchi K, Niijima S, Shimizu T, Okumura A.

Brain Dev. 2015 Apr;37(4):418-22. doi: 10.1016/j.braindev.2014.06.009. Epub 2014 Jul 5.

PMID:
25008803
34.

[MRI and CT in the diagnosis of epilepsy].

Takanashi J.

Nihon Rinsho. 2014 May;72(5):819-26. Review. Japanese.

PMID:
24912281
35.

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. 2014 Jun 17;82(24):2230-7. doi: 10.1212/WNL.0000000000000535. Epub 2014 May 21.

PMID:
24850488
36.

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.

J Neurol. 2014 Apr;261(4):752-8. doi: 10.1007/s00415-014-7263-5. Epub 2014 Feb 16.

PMID:
24532200
37.

Clinical and radiologic features of encephalopathy during 2011 E coli O111 outbreak in Japan.

Takanashi J, Taneichi H, Misaki T, Yahata Y, Okumura A, Ishida Y, Miyawaki T, Okabe N, Sata T, Mizuguchi M.

Neurology. 2014 Feb 18;82(7):564-72. doi: 10.1212/WNL.0000000000000120. Epub 2014 Jan 17.

PMID:
24443449
38.

Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.

Yamamoto T, Sato H, Lai PS, Nurputra DK, Harahap NI, Morikawa S, Nishimura N, Kurashige T, Ohshita T, Nakajima H, Yamada H, Nishida Y, Toda S, Takanashi J, Takeuchi A, Tohyama Y, Kubo Y, Saito K, Takeshima Y, Matsuo M, Nishio H.

Brain Dev. 2014 Nov;36(10):914-20. doi: 10.1016/j.braindev.2013.11.009. Epub 2013 Dec 17.

PMID:
24359787
39.

Neurochemistry in shiverer mouse depicted on MR spectroscopy.

Takanashi J, Nitta N, Iwasaki N, Saito S, Tanaka R, Barkovich AJ, Aoki I.

J Magn Reson Imaging. 2014 Jun;39(6):1550-7. doi: 10.1002/jmri.24306. Epub 2013 Nov 14.

PMID:
24243812
40.

C5orf42 is the major gene responsible for OFD syndrome type VI.

Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T.

Hum Genet. 2014 Mar;133(3):367-77. doi: 10.1007/s00439-013-1385-1. Epub 2013 Nov 1.

PMID:
24178751
41.

MLL2 and KDM6A mutations in patients with Kabuki syndrome.

Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N.

Am J Med Genet A. 2013 Sep;161A(9):2234-43. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2.

PMID:
23913813
42.

Serum and CSF biomarkers in acute pediatric neurological disorders.

Shiihara T, Miyake T, Izumi S, Sugihara S, Watanabe M, Takanashi J, Kubota M, Kato M.

Brain Dev. 2014 Jun;36(6):489-95. doi: 10.1016/j.braindev.2013.06.011. Epub 2013 Jul 11.

PMID:
23850003
43.

[MRI and MR spectroscopy in hypomyelinating disorders].

Takanashi J.

No To Hattatsu. 2013 Mar;45(2):132-6. Review. Japanese. No abstract available.

PMID:
23650818
44.

[Congenital hypomyelinating leukodystrophies--from genomic dissection to molecular diagnosis and potential therapies].

Inoue K, Iwaki A, Kurosawa K, Takanashi J, Deguchi K, Yamamoto T, Osaka H.

No To Hattatsu. 2013 Mar;45(2):122-6. Review. Japanese. No abstract available.

PMID:
23650816
45.

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 Dev. 2014 Mar;36(3):259-63. doi: 10.1016/j.braindev.2013.03.006. Epub 2013 May 3.

PMID:
23643445
46.

ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus.

Shinohara M, Saitoh M, Nishizawa D, Ikeda K, Hirose S, Takanashi J, Takita J, Kikuchi K, Kubota M, Yamanaka G, Shiihara T, Kumakura A, Kikuchi M, Toyoshima M, Goto T, Yamanouchi H, Mizuguchi M.

Neurology. 2013 Apr 23;80(17):1571-6. doi: 10.1212/WNL.0b013e31828f18d8. Epub 2013 Mar 27.

47.

MR spectroscopy in 18q(-) syndrome suggesting other than hypomyelination.

Tada H, Takanashi J.

Brain Dev. 2014 Jan;36(1):57-60. doi: 10.1016/j.braindev.2012.12.003. Epub 2013 Jan 17.

PMID:
23332863
48.

A child with three episodes of reversible splenial lesion.

Kouga T, Iai M, Yamashita S, Aida N, Takanashi J, Osaka H.

Neuropediatrics. 2013 Aug;44(4):199-202. doi: 10.1055/s-0032-1330854. Epub 2012 Dec 19.

PMID:
23254571
49.

Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.

Okumura A, Hayashi M, Shimojima K, Ikeno M, Uchida T, Takanashi J, Okamoto N, Hisata K, Shoji H, Saito A, Furukawa T, Kishida T, Shimizu T, Yamamoto T.

Neuropathology. 2013 Oct;33(5):553-60. doi: 10.1111/neup.12007. Epub 2012 Dec 13.

PMID:
23240987
50.

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.

Ann Neurol. 2013 Jan;73(1):48-57. doi: 10.1002/ana.23736. Epub 2012 Dec 7.

PMID:
23225343

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