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Items: 1 to 50 of 261

1.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N.

Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9.

PMID:
31175295
2.

Drug screening for Pelizaeus-Merzbacher disease by quantifying the total levels and membrane localization of PLP1.

Kouga T, Koizume S, Aoki S, Jimbo E, Yamagata T, Inoue K, Osaka H.

Mol Genet Metab Rep. 2019 May 7;20:100474. doi: 10.1016/j.ymgmr.2019.100474. eCollection 2019 Sep.

3.

Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation.

Matsumoto A, Nagashima M, Iwama K, Mizuguchi T, Makino S, Ikeda T, Muramatsu K, Matsumoto N, Yamagata T, Osaka H.

Brain Dev. 2019 Apr 24. pii: S0387-7604(19)30151-2. doi: 10.1016/j.braindev.2019.04.009. [Epub ahead of print]

PMID:
31029456
4.

[Autoimmune pancreatitis with bowel obstruction caused by proximal jejunal stricture:a case report].

Oyama G, Tomita M, Matsuo T, Inada Y, Osaka H, Kiriyama M, Yoneda K, Takagawa K, Tsuji H.

Nihon Shokakibyo Gakkai Zasshi. 2019;116(3):256-264. doi: 10.11405/nisshoshi.116.256. Japanese.

PMID:
30853679
5.

MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNAMet gene.

Kuwajima M, Goto M, Kurane K, Shimbo H, Omika N, Jimbo EF, Muramatsu K, Tajika M, Shimura M, Murayama K, Kurosawa K, Yamagata T, Osaka H.

Brain Dev. 2019 May;41(5):465-469. doi: 10.1016/j.braindev.2019.01.006. Epub 2019 Feb 7.

PMID:
30739820
6.

Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.

Kojima K, Nakajima T, Taga N, Miyauchi A, Kato M, Matsumoto A, Ikeda T, Nakamura K, Kubota T, Mizukami H, Ono S, Onuki Y, Sato T, Osaka H, Muramatsu SI, Yamagata T.

Brain. 2019 Feb 1;142(2):322-333. doi: 10.1093/brain/awy331.

7.

Characterization of a novel reassortant H7N3 highly pathogenic avian influenza virus isolated from a poultry meat product taken on a passenger flight to Japan.

Shibata A, Harada R, Okamatsu M, Matsuno K, Arita T, Suzuki Y, Shirakura M, Odagiri T, Takemae N, Uchida Y, Saito T, Sakoda Y, Osaka H.

J Vet Med Sci. 2019 Mar 20;81(3):444-448. doi: 10.1292/jvms.18-0628. Epub 2019 Jan 24.

8.

Multiple Patients With Burn Injury Induced by a Chemical Explosion Managed by Physician-Staffed Helicopters.

Kondo A, Jitsuiki K, Osaka H, Takeuchi I, Ishikawa K, Omori K, Yanagawa Y.

Disaster Med Public Health Prep. 2019 Jan 3:1-7. doi: 10.1017/dmp.2018.150. [Epub ahead of print]

PMID:
30602405
9.

Reply to the Letter, "Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation".

Osaka H, Miyauchi A.

Brain Dev. 2019 Feb;41(2):224. doi: 10.1016/j.braindev.2018.11.002. Epub 2018 Nov 17. No abstract available.

PMID:
30458972
10.

Aggregate formation analysis of GFAPR416W found in one case of Alexander disease.

Tulyeu J, Tamaura M, Jimbo E, Shimbo H, Takano K, Iai M, Yamashita S, Goto T, Aida N, Tokuhiro E, Yamagata T, Osaka H.

Brain Dev. 2019 Feb;41(2):195-200. doi: 10.1016/j.braindev.2018.08.009. Epub 2018 Sep 10.

PMID:
30213442
11.

Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome.

Ikeda T, Osaka H, Shimbo H, Tajika M, Yamazaki M, Ueda A, Murayama K, Yamagata T.

Hum Genome Var. 2018 Sep 4;5:25. doi: 10.1038/s41439-018-0026-6. eCollection 2018.

12.

Tape measure-based real-time feedback during the abdominal draw-in maneuver facilitates isolated transverse abdominal contraction.

Suehiro T, Ishida H, Kobara K, Fujita D, Osaka H, Watanabe S.

J Phys Ther Sci. 2018 Aug;30(8):1081-1085. doi: 10.1589/jpts.30.1081. Epub 2018 Aug 7.

13.

Repeated detection of H7N9 avian influenza viruses in raw poultry meat illegally brought to Japan by international flight passengers.

Shibata A, Okamatsu M, Sumiyoshi R, Matsuno K, Wang ZJ, Kida H, Osaka H, Sakoda Y.

Virology. 2018 Nov;524:10-17. doi: 10.1016/j.virol.2018.08.001. Epub 2018 Aug 20.

PMID:
30138834
14.

A novel SLC9A1 mutation causes cerebellar ataxia.

Iwama K, Osaka H, Ikeda T, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Mizuguchi T, Matsumoto N.

J Hum Genet. 2018 Oct;63(10):1049-1054. doi: 10.1038/s10038-018-0488-x. Epub 2018 Jul 17.

PMID:
30018422
15.

Long-term outcomes in motor and cognitive impairment with acute encephalopathy.

Matsubara Y, Osaka H, Yamagata T, Ae R, Shimizu J, Oguro N.

Brain Dev. 2018 Oct;40(9):807-812. doi: 10.1016/j.braindev.2018.05.013. Epub 2018 Jun 8.

PMID:
29891405
16.

Rituximab was effective for acute disseminated encephalomyelitis followed by recurrent optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies.

Nagashima M, Osaka H, Ikeda T, Matsumoto A, Miyauchi A, Kaneko K, Nakashima I, Nakano Y, Wakabayashi K, Monden Y, Yamagata T.

Brain Dev. 2018 Aug;40(7):607-611. doi: 10.1016/j.braindev.2018.03.011. Epub 2018 Apr 13.

PMID:
29661590
17.

Gene therapy for Glut1-deficient mouse using an adeno-associated virus vector with the human intrinsic GLUT1 promoter.

Nakamura S, Muramatsu SI, Takino N, Ito M, Jimbo EF, Shimazaki K, Onaka T, Ohtsuki S, Terasaki T, Yamagata T, Osaka H.

J Gene Med. 2018 Apr;20(4):e3013. doi: 10.1002/jgm.3013. Epub 2018 Apr 6.

PMID:
29624790
18.

Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia.

Ueda A, Shimbo H, Yada Y, Koike Y, Yamagata T, Osaka H.

Hum Genome Var. 2018 Mar 29;5:18013. doi: 10.1038/hgv.2018.13. eCollection 2018.

19.

A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.

Matsumoto A, Tulyeu J, Furukawa R, Watanabe C, Monden Y, Nozaki Y, Mori M, Namekawa M, Jimbo EF, Aihara T, Yamagata T, Osaka H.

Brain Dev. 2018 Aug;40(7):587-591. doi: 10.1016/j.braindev.2018.03.002. Epub 2018 Mar 21.

PMID:
29573842
20.

Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.

Miyauchi A, Osaka H, Nagashima M, Kuwajima M, Monden Y, Kohda M, Kishita Y, Okazaki Y, Murayama K, Ohtake A, Yamagata T.

Brain Dev. 2018 Jun;40(6):498-502. doi: 10.1016/j.braindev.2018.02.007. Epub 2018 Mar 3.

PMID:
29506883
21.

Reply to the letter to the editor by Josef Finsterer and Sinda Zarrouk-Mahjoub.

Osaka H, Kouga T.

Brain Dev. 2018 May;40(5):444. doi: 10.1016/j.braindev.2018.02.006. Epub 2018 Mar 2. No abstract available.

PMID:
29500099
22.

Altered trunk muscle recruitment patterns during lifting in individuals in remission from recurrent low back pain.

Suehiro T, Ishida H, Kobara K, Osaka H, Watanabe S.

J Electromyogr Kinesiol. 2018 Apr;39:128-133. doi: 10.1016/j.jelekin.2018.02.008. Epub 2018 Feb 21.

PMID:
29486424
23.

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, Morikawa M, Uno Y, Ishizuka K, Nakamura K, Tsujii M, Yoshikawa T, Toyota T, Okamoto N, Hiraki Y, Hashimoto R, Yasuda Y, Saitoh S, Ohashi K, Sakai Y, Ohga S, Hara T, Kato M, Nakamura K, Ito A, Seiwa C, Shirahata E, Osaka H, Matsumoto A, Takeshita S, Tohyama J, Saikusa T, Matsuishi T, Nakamura T, Tsuboi T, Kato T, Suzuki T, Saitsu H, Nakashima M, Mizuguchi T, Tanaka F, Mori N, Ozaki N, Matsumoto N.

Cell Rep. 2018 Jan 16;22(3):734-747. doi: 10.1016/j.celrep.2017.12.074.

24.

Association between trunk acceleration during walking and clinically assessed balance in patients with stroke.

Osaka H, Shinkoda K, Watanabe S, Fujita D, Kobara K, Yoshimura Y, Ito T, Suehiro T.

NeuroRehabilitation. 2017;41(4):783-790. doi: 10.3233/NRE-172171.

PMID:
29254113
25.

Difference in First Aid Activity During Mass Casualty Training Based on Having Taken an Educational Course.

Yanagawa Y, Omori K, Ishikawa K, Takeuchi I, Jitsuiki K, Yoshizawa T, Sato J, Matsumoto H, Tsuchiya M, Osaka H.

Disaster Med Public Health Prep. 2018 Aug;12(4):437-440. doi: 10.1017/dmp.2017.99. Epub 2017 Nov 20.

PMID:
29151402
26.

Isolation and characterization of avian influenza viruses from raw poultry products illegally imported to Japan by international flight passengers.

Shibata A, Hiono T, Fukuhara H, Sumiyoshi R, Ohkawara A, Matsuno K, Okamatsu M, Osaka H, Sakoda Y.

Transbound Emerg Dis. 2018 Apr;65(2):465-475. doi: 10.1111/tbed.12726. Epub 2017 Oct 16.

PMID:
29034617
27.

The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.

Matsumoto A, Imagawa E, Miyake N, Ikeda T, Kobayashi M, Goto M, Matsumoto N, Yamagata T, Osaka H.

Brain Dev. 2018 Apr;40(4):325-329. doi: 10.1016/j.braindev.2017.09.002. Epub 2017 Sep 28.

PMID:
28965976
28.

Japanese Leigh syndrome case treated with EPI-743.

Kouga T, Takagi M, Miyauchi A, Shimbo H, Iai M, Yamashita S, Murayama K, Klein MB, Miller G, Goto T, Osaka H.

Brain Dev. 2018 Feb;40(2):145-149. doi: 10.1016/j.braindev.2017.08.005. Epub 2017 Sep 12.

PMID:
28916229
29.

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

Lu Y, Ondo Y, Shimojima K, Osaka H, Yamamoto T.

Hum Genome Var. 2017 Aug 3;4:17035. doi: 10.1038/hgv.2017.35. eCollection 2017.

30.

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.

31.

A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.

Kojima K, Shirai K, Kobayashi M, Miyauchi A, Saitsu H, Matsumoto N, Osaka H, Yamagata T.

Brain Dev. 2018 Jan;40(1):69-73. doi: 10.1016/j.braindev.2017.06.004. Epub 2017 Jul 4.

PMID:
28687180
32.

Miglustat therapy in a case of early-infantile Niemann-Pick type C.

Usui M, Miyauchi A, Nakano Y, Nakamura S, Jimbo E, Itamura S, Adachi K, Nanba E, Narita A, Yamagata T, Osaka H.

Brain Dev. 2017 Nov;39(10):886-890. doi: 10.1016/j.braindev.2017.05.006. Epub 2017 Jun 3.

PMID:
28587793
33.

Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases.

Matsuhashi T, Sato T, Kanno SI, Suzuki T, Matsuo A, Oba Y, Kikusato M, Ogasawara E, Kudo T, Suzuki K, Ohara O, Shimbo H, Nanto F, Yamaguchi H, Saigusa D, Mukaiyama Y, Watabe A, Kikuchi K, Shima H, Mishima E, Akiyama Y, Oikawa Y, Hsin-Jung HO, Akiyama Y, Suzuki C, Uematsu M, Ogata M, Kumagai N, Toyomizu M, Hozawa A, Mano N, Owada Y, Aiba S, Yanagisawa T, Tomioka Y, Kure S, Ito S, Nakada K, Hayashi KI, Osaka H, Abe T.

EBioMedicine. 2017 Jun;20:27-38. doi: 10.1016/j.ebiom.2017.05.016. Epub 2017 May 13.

34.

Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch'ng GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima H, Saitsu H, Matsumoto N.

Clin Genet. 2018 Feb;93(2):266-274. doi: 10.1111/cge.13061. Epub 2017 Sep 18.

PMID:
28556953
35.

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.

Enokizono M, Aida N, Niwa T, Osaka H, Naruto T, Kurosawa K, Ohba C, Suzuki T, Saitsu H, Goto T, Matsumoto N.

J Neurol Sci. 2017 May 15;376:7-12. doi: 10.1016/j.jns.2017.02.065. Epub 2017 Mar 1.

PMID:
28431631
36.

Phenotype of GABA-transaminase deficiency.

Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL.

Neurology. 2017 May 16;88(20):1919-1924. doi: 10.1212/WNL.0000000000003936. Epub 2017 Apr 14. Review.

37.

Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C.

Kodachi T, Matsumoto S, Mizuguchi M, Osaka H, Kanai N, Nanba E, Ohno K, Yamagata T.

Neuropathology. 2017 Oct;37(5):426-430. doi: 10.1111/neup.12380. Epub 2017 Apr 7.

PMID:
28387450
38.

Three Cases of Escherichia coli Meningitis in Chicks Imported to Japan.

Kasuya K, Shimokubo N, Kosuge C, Takayama K, Yoshida E, Osaka H.

Avian Dis. 2017 Mar;61(1):135-138. doi: 10.1637/11443-060716-Case.

PMID:
28301230
39.

Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.

Iida S, Nakamura M, Asayama S, Kunieda T, Kaneko S, Osaka H, Kusaka H.

BMC Neurol. 2017 Feb 28;17(1):47. doi: 10.1186/s12883-017-0827-0.

40.

Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome.

Nakamura S, Osaka H, Muramatsu SI, Takino N, Ito M, Aoki S, Jimbo EF, Shimazaki K, Onaka T, Ohtsuki S, Terasaki T, Yamagata T.

Mol Genet Metab Rep. 2017 Jan 15;10:67-74. doi: 10.1016/j.ymgmr.2016.12.008. eCollection 2017 Mar.

41.

A case of severe movement disorder with GNAO1 mutation responsive to topiramate.

Sakamoto S, Monden Y, Fukai R, Miyake N, Saito H, Miyauchi A, Matsumoto A, Nagashima M, Osaka H, Matsumoto N, Yamagata T.

Brain Dev. 2017 May;39(5):439-443. doi: 10.1016/j.braindev.2016.11.009. Epub 2017 Jan 6.

PMID:
27916449
42.

Erratum to: Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes.

Kondo T, Funayama M, Miyake M, Tsukita K, Era T, Osaka H, Ayaki T, Takahashi R, Inoue H.

Acta Neuropathol Commun. 2016 Sep 16;4(1):101. No abstract available.

43.

Role of Class III phosphoinositide 3-kinase in the brain development: possible involvement in specific learning disorders.

Inaguma Y, Matsumoto A, Noda M, Tabata H, Maeda A, Goto M, Usui D, Jimbo EF, Kikkawa K, Ohtsuki M, Momoi MY, Osaka H, Yamagata T, Nagata KI.

J Neurochem. 2016 Oct;139(2):245-255. doi: 10.1111/jnc.13832. Epub 2016 Sep 19.

44.

Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes.

Kondo T, Funayama M, Miyake M, Tsukita K, Era T, Osaka H, Ayaki T, Takahashi R, Inoue H.

Acta Neuropathol Commun. 2016 Jul 11;4(1):69. doi: 10.1186/s40478-016-0337-0. Erratum in: Acta Neuropathol Commun. 2016;4(1):101.

45.

A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition.

Kojima K, Anzai R, Ohba C, Goto T, Miyauchi A, Thöny B, Saitsu H, Matsumoto N, Osaka H, Yamagata T.

Brain Dev. 2016 Nov;38(10):959-963. doi: 10.1016/j.braindev.2016.06.002. Epub 2016 Jun 29.

PMID:
27371992
46.

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N.

Am J Med Genet A. 2016 Oct;170(10):2662-70. doi: 10.1002/ajmg.a.37778. Epub 2016 Jun 5.

PMID:
27264538
47.

SSADH deficiency possibly associated with enzyme activity-reducing SNPs.

Akiyama T, Osaka H, Shimbo H, Kuhara T, Shibata T, Kobayashi K, Kurosawa K, Yoshinaga H.

Brain Dev. 2016 Oct;38(9):871-4. doi: 10.1016/j.braindev.2016.03.008. Epub 2016 Apr 4.

PMID:
27056292
48.

WDR45 mutations in three male patients with West syndrome.

Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N.

J Hum Genet. 2016 Jul;61(7):653-61. doi: 10.1038/jhg.2016.27. Epub 2016 Mar 31. Review.

PMID:
27030146
49.

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
50.

A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease.

Omata T, Nagai J, Shimbo H, Koizume S, Miyagi Y, Kurosawa K, Yamashita S, Osaka H, Inoue K.

Brain Dev. 2016 Jun;38(6):581-4. doi: 10.1016/j.braindev.2015.12.002. Epub 2015 Dec 22.

PMID:
26725305

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