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Koh, Kishin
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1

SPTLC2 variants are associated with early‐onset ALS and FTD..:

Naruse, Hiroya ; Ishiura, Hiroyuki ; Esaki, Kayoko...
Annals of Clinical and Translational Neurology.  11 (2024)  4 - p. 946-957 , 2024
Link: https://doi.org/10.1002/..
 
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2

A case of monozygotic twins with hereditary spastic paraple..:

Mizuno, Yuri ; Uehara, Taira ; Nakamura, Yuri...
Journal of Sleep Research.  33 (2023)  4 - p. , 2023
Link: https://doi.org/10.1111/..
 
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3

Novel heterozygous variants of SLC12A6 in Japanese families..:

Ando, Masahiro ; Higuchi, Yujiro ; Yuan, Junhui...
Annals of Clinical and Translational Neurology.  9 (2022)  7 - p. 902-911 , 2022
Link: https://doi.org/10.1002/..
 
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4

A clinical and genetic study of SPG31 in Japan:

Hata, Takanori ; Nan, Haitian ; Koh, Kishin...
Journal of Human Genetics.  67 (2022)  7 - p. 421-425 , 2022
Link: https://doi.org/10.1038/..
 
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5

MOGantibody‐related disorder associated with peripheral fac..:

Morishima, Yuto ; Satake, Akane ; Hata, Takanori...
Clinical and Experimental Neuroimmunology.  , 2022
Link: https://doi.org/10.1111/..
 
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6

A heterozygous GRID2 mutation in autosomal dominant cerebel..:

Koh, Kishin ; Shimazaki, Haruo ; Ogawa, Matsuo.
Human Genome Variation.  9 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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7

Spastic Paraplegia with Paget's Disease of Bone due to a VC..:

Nakamura, Takumi ; Kawarabayashi, Takeshi ; Koh, Kishin...
Internal Medicine.  60 (2021)  1 - p. 141-144 , 2021
Link: https://doi.org/10.2169/..
 
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8

A Nepalese family with an REEP2 mutation: clinical and gene..:

Nan, Haitian ; Takaki, Ryusuke ; Hata, Takanori..
Journal of Human Genetics.  66 (2021)  7 - p. 749-752 , 2021
Link: https://doi.org/10.1038/..
 
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9

Sympathetic nerve outflow to skin in a case with dentatorub..:

Shindo, Kazumasa ; Sato, Tohko ; Kurita, Takafumi...
Journal of Clinical Neuroscience.  87 (2021)  - p. 80-83 , 2021
Link: https://doi.org/10.1016/..
 
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10

Chédiak–Higashi syndrome presenting as a hereditary spastic..:

Koh, Kishin ; Tsuchiya, Mai ; Ishiura, Hiroyuki...
Journal of Human Genetics.  67 (2021)  2 - p. 119-121 , 2021
Link: https://doi.org/10.1038/..
 
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11

SPG9A with the new occurrence of an ALDH18A1 mutation in a ..:

Koh, Kishin ; Takaki, Ryusuke ; Ishiura, Hiroyuki..
BMC Neurology.  21 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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12

A case of late‐onset Chediak‐Higashi syndrome with progress..:

Nakamura, Takeshi ; Koh, Kishin ; Takiyama, Yoshihisa.
Neurology and Clinical Neuroscience.  8 (2020)  6 - p. 415-418 , 2020
Link: https://doi.org/10.1111/..
 
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13

A Japanese SPG4 Patient with a Confirmed De Novo Mutation o..:

Nan, Haitian ; Okamoto, Kensho ; Gao, Lihua...
Internal Medicine.  59 (2020)  18 - p. 2311-2315 , 2020
Link: https://doi.org/10.2169/..
 
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14

Variants in saposin D domain of prosaposin gene linked to P..:

Hattori, Nobutaka ; Matsuda, Junko ; Wu, Yih-Ru...
Brain.  143 (2020)  4 - p. 1190-1205 , 2020
Link: https://doi.org/10.1093/..
 
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15

RFC1 repeat expansion in Japanese patients with late-onset ..:

Tsuchiya, Mai ; Nan, Haitian ; Koh, Kishin...
Journal of Human Genetics.  65 (2020)  12 - p. 1143-1147 , 2020
Link: https://doi.org/10.1038/..
 
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