| Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy H Ishiura, K Doi, J Mitsui, J Yoshimura, MK Matsukawa, A Fujiyama, ... Nature genetics 50 (4), 581-590, 2018 | 298 | 2018 |
| Variants in saposin D domain of prosaposin gene linked to Parkinson’s disease Y Oji, T Hatano, SI Ueno, M Funayama, K Ishikawa, A Okuzumi, S Noda, ... Brain 143 (4), 1190-1205, 2020 | 91 | 2020 |
| RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia M Tsuchiya, H Nan, K Koh, Y Ichinose, L Gao, K Shimozono, T Hata, ... Journal of Human Genetics 65 (12), 1143-1147, 2020 | 46 | 2020 |
| JASPAC: Japan spastic paraplegia research consortium K Koh, H Ishiura, S Tsuji, Y Takiyama Brain sciences 8 (8), 153, 2018 | 46 | 2018 |
| VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia K Koh, H Ishiura, H Shimazaki, M Tsutsumiuchi, Y Ichinose, H Nan, ... Molecular Genetics & Genomic Medicine 8 (3), e1108, 2020 | 39 | 2020 |
| Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia M Wiessner, R Maroofian, MY Ni, A Pedroni, JS Müller, R Stucka, C Beetz, ... Brain 144 (5), 1422-1434, 2021 | 30 | 2021 |
| PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia K Koh, Y Ichinose, H Ishiura, H Nan, J Mitsui, J Takahashi, W Sato, Y Itoh, ... Journal of Human Genetics 64 (1), 55-59, 2019 | 24 | 2019 |
| A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study Y Wang, K Koh, M Miwa, N Yamashiro, K Shindo, Y Takiyama Journal of human genetics 59 (10), 569-573, 2014 | 24 | 2014 |
| Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia Y Odake, K Koh, Y Takiyama, H Ishiura, S Tsuji, M Yamada, M Yoshita Neurology: Genetics 6 (5), e514, 2020 | 20 | 2020 |
| UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes H Nan, Y Ichinose, M Tanaka, K Koh, H Ishiura, J Mitsui, H Mizukami, ... Journal of Human Genetics 64 (11), 1055-1065, 2019 | 20 | 2019 |
| Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment K Koh, H Ishiura, M Beppu, H Shimazaki, Y Ichinose, J Mitsui, ... Journal of Human Genetics 63 (9), 1009-1013, 2018 | 20 | 2018 |
| Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome K Koh, F Kobayashi, M Miwa, K Shindo, E Isozaki, H Ishiura, S Tsuji, ... Journal of human genetics 60 (4), 217-220, 2015 | 18 | 2015 |
| Non-convulsive status epilepticus associated with neuronal intranuclear inclusion disease: a case report and literature review K Shindo, M Tsuchiya, T Hata, Y Ichinose, K Koh, J Sone, T Nagasaka, ... Epilepsy & Behavior Case Reports 11, 103-106, 2019 | 16 | 2019 |
| A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis. Y Wang, K Koh, Y Ichinose, M Yasumura, T Ohtsuka, Y Takiyama Clinical Genetics 90 (6), 2016 | 15 | 2016 |
| Novel GARS mutation presenting as autosomal dominant intermediate Charcot‐Marie‐Tooth disease H Nan, R Takaki, T Hata, Y Ichinose, M Tsuchiya, K Koh, Y Takiyama Journal of the Peripheral Nervous System 24 (1), 156-160, 2019 | 13 | 2019 |
| Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8 Y Ichinose, K Koh, M Fukumoto, N Yamashiro, F Kobayashi, M Miwa, ... Clinical Neurology and Neurosurgery 144, 36-38, 2016 | 11 | 2016 |
| Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family A Hasegawa, R Koike, K Koh, A Kawakami, N Hara, Y Takiyama, ... Journal of the neurological sciences 372, 128-130, 2017 | 10 | 2017 |
| Novel SPG11 mutations in a patient with symptoms mimicking multiple sclerosis M Mukai, K Koh, Y Ohnuki, E Nagata, Y Takiyama, S Takizawa Internal Medicine 57 (21), 3183-3186, 2018 | 9 | 2018 |
| Age‐related changes in blood pressure and heart rates of patients with Parkinson's disease K Shindo, Y Morishima, Y Suwa, T Fukao, T Kurita, A Satake, M Tsuchiya, ... The Journal of Clinical Hypertension 23 (1), 175-178, 2021 | 8 | 2021 |
| Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation T Nakamura, T Kawarabayashi, K Koh, Y Takiyama, Y Ikeda, M Shoji Internal Medicine 60 (1), 141-144, 2021 | 8 | 2021 |
