Koh K - Search Results

1

Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia.

Odake Y, Koh K, Takiyama Y, Ishiura H, Tsuji S, Yamada M, Yoshita M. Odake Y, et al. Among authors: koh k. Neurol Genet. 2020 Sep 8;6(5):e514. doi: 10.1212/NXG.0000000000000514. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 33134512 Free PMC article.

2

[Cheyne-Stokes respiration appeared in an early stage of the disease in a patient with Creutzfeldt-Jakob disease].

Koh K, Nagasaka T, Kobayashi F, Yamashiro N, Shindo K, Takiyama Y. Koh K, et al. Rinsho Shinkeigaku. 2013;53(8):642-5. doi: 10.5692/clinicalneurol.53.642. Rinsho Shinkeigaku. 2013. PMID: 23965858 Japanese.

3

A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.

Wang Y, Koh K, Miwa M, Yamashiro N, Shindo K, Takiyama Y. Wang Y, et al. Among authors: koh k. J Hum Genet. 2014 Oct;59(10):569-73. doi: 10.1038/jhg.2014.74. Epub 2014 Aug 21. J Hum Genet. 2014. PMID: 25142508

4

Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.

Koh K, Kobayashi F, Miwa M, Shindo K, Isozaki E, Ishiura H, Tsuji S, Takiyama Y. Koh K, et al. J Hum Genet. 2015 Apr;60(4):217-20. doi: 10.1038/jhg.2015.3. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631098

5

[A case of Creutzfeldt-Jakob disease with a double mutation (V180I/M232R) in the PRNP gene].

Koh K, Takaki R, Miwa M, Nagasaka T, Shindo K, Takiyama Y. Koh K, et al. Rinsho Shinkeigaku. 2015;55(6):424-7. doi: 10.5692/clinicalneurol.cn-000646. Rinsho Shinkeigaku. 2015. PMID: 26103817 Japanese.

6

No relation between sympathetic outflow to muscles and respiratory function in amyotrophic lateral sclerosis.

Shindo K, Tsuchiya M, Ichinose Y, Onohara A, Fukumoto M, Koh K, Takaki R, Yamashiro N, Kobayashi F, Nagasaka T, Takiyama Y. Shindo K, et al. Among authors: koh k. J Neurol Sci. 2015 Nov 15;358(1-2):66-71. doi: 10.1016/j.jns.2015.08.017. Epub 2015 Aug 12. J Neurol Sci. 2015. PMID: 26285663

7

Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8.

Ichinose Y, Koh K, Fukumoto M, Yamashiro N, Kobayashi F, Miwa M, Nagasaka T, Shindo K, Ishiura H, Tsuji S, Takiyama DY. Ichinose Y, et al. Among authors: koh k. Clin Neurol Neurosurg. 2016 May;144:36-8. doi: 10.1016/j.clineuro.2016.02.031. Epub 2016 Mar 4. Clin Neurol Neurosurg. 2016. PMID: 26967522

8

Hot cross bun sign in a late-onset SCA1 patient.

Wang Y, Koh K, Takaki R, Shindo K, Takiyama Y. Wang Y, et al. Among authors: koh k. Neurol Sci. 2016 Nov;37(11):1873-1874. doi: 10.1007/s10072-016-2635-5. Epub 2016 Jun 13. Neurol Sci. 2016. PMID: 27294351 No abstract available.

9

A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis.

Wang Y, Koh K, Ichinose Y, Yasumura M, Ohtsuka T, Takiyama Y. Wang Y, et al. Among authors: koh k. Clin Genet. 2016 Dec;90(6):556-557. doi: 10.1111/cge.12851. Epub 2016 Sep 16. Clin Genet. 2016. PMID: 27633718 No abstract available.

10

Vasomotor regulation in patients with multiple system atrophy.

Shindo K, Tsuchiya M, Ichinose Y, Koh K, Hata T, Yamashiro N, Kobayashi F, Nagasaka T, Takiyama Y. Shindo K, et al. Among authors: koh k. J Neural Transm (Vienna). 2017 Apr;124(4):477-481. doi: 10.1007/s00702-016-1644-0. Epub 2016 Nov 8. J Neural Transm (Vienna). 2017. PMID: 27826809

11

Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family.

Hasegawa A, Koike R, Koh K, Kawakami A, Hara N, Takiyama Y, Ikeuchi T. Hasegawa A, et al. Among authors: koh k. J Neurol Sci. 2017 Jan 15;372:128-130. doi: 10.1016/j.jns.2016.11.032. Epub 2016 Nov 15. J Neurol Sci. 2017. PMID: 28017198 No abstract available.

12

Pre- and postganglionic vasomotor dysfunction causes distal limb coldness in multiple system atrophy.

Shindo K, Tsuchiya M, Ichinose Y, Koh K, Hata T, Yamashiro N, Kobayashi F, Nagasaka T, Takiyama Y. Shindo K, et al. Among authors: koh k. J Neurol Sci. 2017 Sep 15;380:191-195. doi: 10.1016/j.jns.2017.07.018. Epub 2017 Jul 18. J Neurol Sci. 2017. PMID: 28870566

13

Sympathetic neurograms showing characteristics of both muscle and skin sympathetic nerve activity in a case with pure autonomic failure.

Shindo K, Satake A, Kurita N, Sato T, Tsuchiya M, Ichinose Y, Hata T, Koh K, Nagasaka T, Takiyama Y. Shindo K, et al. Among authors: koh k. Clin Auton Res. 2018 Jun;28(3):347-349. doi: 10.1007/s10286-017-0497-4. Epub 2018 Jan 8. Clin Auton Res. 2018. PMID: 29313154 No abstract available.

14

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S. Ishiura H, et al. Among authors: koh k. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5. Nat Genet. 2018. PMID: 29507423

15

Novel SLC20A2 mutation in primary familial brain calcification with disturbance of sustained phonation and orofacial apraxia.

Nan H, Takaki R, Ichinose Y, Tsuchiya M, Koh K, Hanyu S, Shindo K, Takiyama Y. Nan H, et al. Among authors: koh k. J Neurol Sci. 2018 Jul 15;390:1-3. doi: 10.1016/j.jns.2018.03.031. Epub 2018 Mar 27. J Neurol Sci. 2018. PMID: 29801865 No abstract available.

16

Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis.

Mukai M, Koh K, Ohnuki Y, Nagata E, Takiyama Y, Takizawa S. Mukai M, et al. Among authors: koh k. Intern Med. 2018 Nov 1;57(21):3183-3186. doi: 10.2169/internalmedicine.0976-18. Epub 2018 Jun 6. Intern Med. 2018. PMID: 29877287 Free PMC article.

17

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.

Koh K, Ishiura H, Beppu M, Shimazaki H, Ichinose Y, Mitsui J, Kuwabara S, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consortium. Koh K, et al. J Hum Genet. 2018 Sep;63(9):1009-1013. doi: 10.1038/s10038-018-0477-0. Epub 2018 Jun 18. J Hum Genet. 2018. PMID: 29915212 Clinical Trial.

18

JASPAC: Japan Spastic Paraplegia Research Consortium.

Koh K, Ishiura H, Tsuji S, Takiyama Y. Koh K, et al. Brain Sci. 2018 Aug 13;8(8):153. doi: 10.3390/brainsci8080153. Brain Sci. 2018. PMID: 30104498 Free PMC article. Review.

19

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.

Koh K, Ichinose Y, Ishiura H, Nan H, Mitsui J, Takahashi J, Sato W, Itoh Y, Hoshino K, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consotium. Koh K, et al. J Hum Genet. 2019 Jan;64(1):55-59. doi: 10.1038/s10038-018-0519-7. Epub 2018 Oct 9. J Hum Genet. 2019. PMID: 30302010

20

Decreasing ¹²³I-ioflupane SPECT accumulation and ¹²³I-MIBG myocardial scintigraphy uptake in a patient with a novel homozygous mutation in the ZFYVE26 gene.

Koh K, Tsuchiya M, Nagasaka T, Shindo K, Takiyama Y. Koh K, et al. Neurol Sci. 2019 Feb;40(2):429-431. doi: 10.1007/s10072-018-3603-z. Epub 2018 Oct 16. Neurol Sci. 2019. PMID: 30327957 No abstract available.

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