Koh K - Search Results

1

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta AT, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Olgac Dundar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Català-Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik… See abstract for full author list ➔ Wiessner M, et al. Among authors: koh k. Brain. 2021 Sep 4;144(8):e70. doi: 10.1093/brain/awab193. Brain. 2021. PMID: 34480796 Free PMC article. No abstract available.

2

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.

3

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.

4

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

5

Correction: 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):61-63. doi: 10.1038/s10038-018-0533-9. J Hum Genet. 2019. PMID: 30410098

6

Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report.

Hata T, Nagasaka T, Koh K, Tsuchiya M, Ichinose Y, Nan H, Shindo K, Takiyama Y. Hata T, et al. Among authors: koh k. BMC Neurol. 2019 Jun 12;19(1):125. doi: 10.1186/s12883-019-1360-0. BMC Neurol. 2019. PMID: 31189464 Free PMC article.

7

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes.

Nan H, Ichinose Y, Tanaka M, Koh K, Ishiura H, Mitsui J, Mizukami H, Morimoto M, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y. Nan H, et al. Among authors: koh k. J Hum Genet. 2019 Nov;64(11):1055-1065. doi: 10.1038/s10038-019-0670-9. Epub 2019 Sep 12. J Hum Genet. 2019. PMID: 31515522

8

VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.

Koh K, Ishiura H, Shimazaki H, Tsutsumiuchi M, Ichinose Y, Nan H, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y. Koh K, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1108. doi: 10.1002/mgg3.1108. Epub 2019 Dec 26. Mol Genet Genomic Med. 2020. PMID: 31876103 Free PMC article.

9

Conjugal multiple system atrophy: Computing chance or investigating real patients?

Nan H, Natori T, Ichinose Y, Koh K, Takiyama Y. Nan H, et al. Among authors: koh k. Parkinsonism Relat Disord. 2020 Jun;75:122-123. doi: 10.1016/j.parkreldis.2020.03.005. Epub 2020 Mar 14. Parkinsonism Relat Disord. 2020. PMID: 32199744 No abstract available.

10

A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report.

Nakamura-Shindo K, Ono K, Koh K, Ishiura H, Tsuji S, Takiyama Y, Yamada M. Nakamura-Shindo K, et al. Among authors: koh k. eNeurologicalSci. 2020 Apr 2;19:100238. doi: 10.1016/j.ensci.2020.100238. eCollection 2020 Jun. eNeurologicalSci. 2020. PMID: 32280793 Free PMC article.

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