| Antibody therapy targeting RAN proteins rescues C9 ALS/FTD phenotypes in C9orf72 mouse model L Nguyen, F Montrasio, A Pattamatta, SK Tusi, O Bardhi, KD Meyer, ... Neuron 105 (4), 645-662. e11, 2020 | 87 | 2020 |
| Clinical assessment of standing and gait in ataxic patients using a triaxial accelerometer A Matsushima, K Yoshida, H Genno, A Murata, S Matsuzawa, ... Cerebellum & ataxias 2, 1-7, 2015 | 62 | 2015 |
| Adult or late-onset triple A syndrome: case report and literature review K Nakamura, K Yoshida, T Yoshinaga, M Kodaira, Y Shimojima, Y Takei, ... Journal of the neurological sciences 297 (1-2), 85-88, 2010 | 55 | 2010 |
| Spinocerebellar ataxia type 6 (SCA6): clinical pilot trial with gabapentin K Nakamura, K Yoshida, D Miyazaki, H Morita, S Ikeda Journal of the neurological sciences 278 (1-2), 107-111, 2009 | 39 | 2009 |
| Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation H Shimazaki, J Honda, T Naoi, M Namekawa, I Nakano, M Yazaki, ... Journal of Neurology, Neurosurgery & Psychiatry 85 (9), 1024-1028, 2014 | 38 | 2014 |
| Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene Y Sekijima, K Nakamura, D Kishida, A Narita, K Adachi, K Ohno, E Nanba, ... Internal medicine 52 (1), 119-124, 2013 | 31 | 2013 |
| Natural history of spinocerebellar ataxia type 31: a 4-year prospective study K Nakamura, K Yoshida, A Matsushima, Y Shimizu, S Sato, ... The Cerebellum 16, 518-524, 2017 | 28 | 2017 |
| Cerebral hemorrhage in Fabry's disease K Nakamura, Y Sekijima, K Nakamura, K Hattori, K Nagamatsu, Y Shimizu, ... Journal of human genetics 55 (4), 259-261, 2010 | 26 | 2010 |
| p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small‐vessel occlusion in elderly Japanese males K Nakamura, Y Sekijima, K Nakamura, K Hattori, K Nagamatsu, Y Shimizu, ... European Journal of Neurology 21 (1), 49-56, 2014 | 25 | 2014 |
| Triple A syndrome in Japan M Ikeda, M Hirano, K Shinoda, N Katsumata, D Furutama, K Nakamura, ... Muscle & Nerve 48 (3), 381-386, 2013 | 23 | 2013 |
| A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea K Nakamura, Y Sekijima, K Nagamatsu, K Yoshida, S Ikeda Journal of the neurological sciences 313 (1-2), 189-192, 2012 | 23 | 2012 |
| A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8 T Yoshinaga, K Nakamura, M Ishikawa, T Yamaguchi, K Takano, K Wakui, ... Human Genome Variation 4 (1), 1-4, 2017 | 19 | 2017 |
| Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano area of Japan K Yoshida, Y Shimizu, H Morita, T Okano, H Sakai, T Ohata, N Matsumoto, ... The Cerebellum 8, 46-51, 2009 | 16 | 2009 |
| Idiopathic cerebellar ataxia (IDCA): diagnostic criteria and clinical analyses of 63 Japanese patients K Yoshida, S Kuwabara, K Nakamura, R Abe, A Matsushima, M Beppu, ... Journal of the neurological sciences 384, 30-35, 2018 | 15 | 2018 |
| Hypertrophic pachymeningitis as an early manifestation of relapsing polychondritis: case report and review of the literature S Ushiyama, T Kinoshita, Y Shimojima, N Ohashi, D Kishida, D Miyazaki, ... Case Reports in Neurology 8 (3), 211-217, 2017 | 12 | 2017 |
| A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2) K Nakamura, K Yoshida, H Makishita, E Kitamura, S Hashimoto, S Ikeda Journal of human genetics 54 (12), 746-748, 2009 | 12 | 2009 |
| Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy Y Kondo, A Matsushima, S Nagasaki, K Nakamura, Y Sekijima, K Yoshida European Journal of Neurology 27 (2), 369-375, 2020 | 11 | 2020 |
| Prevalence of Fabry disease and GLA c. 196G> C variant in Japanese stroke patients K Nagamatsu, Y Sekijima, K Nakamura, K Nakamura, K Hattori, M Ota, ... Journal of Human Genetics 62 (7), 665-670, 2017 | 10 | 2017 |
| A late-onset and relatively rapidly progressive case of pure spinal form Cerebrotendinous Xanthomatosis with a Novel mutation in the CYP27A1 gene K Takasone, T Morizumi, K Nakamura, Y Mochizuki, T Yoshinaga, ... Internal Medicine 59 (20), 2587-2591, 2020 | 8 | 2020 |
| A case report of WEBINO syndrome with convergence impairment T Yoshinaga, K Nakamura, K Kaneko, A Nakamura Journal of Neurology and Neurophysiology 6, 2015 | 4 | 2015 |
Tsuneaki YoshinagaScripps Research InstituteVerified email at scripps.edu
