| A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia H Morino, Y Matsuda, K Muguruma, R Miyamoto, R Ohsawa, T Ohtake, ... Molecular brain 8, 1-9, 2015 | 102 | 2015 |
| Mutations in GNAL: a novel cause of craniocervical dystonia KR Kumar, K Lohmann, I Masuho, R Miyamoto, A Ferbert, T Lohnau, ... JAMA neurology 71 (4), 490-494, 2014 | 84 | 2014 |
| Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease Y Izumi, R Miyamoto, H Morino, A Yoshizawa, K Nishinaka, F Udaka, ... Neurology 80 (6), 600-601, 2013 | 77 | 2013 |
| Neurologic attack and dynamic perfusion abnormality in neuronal intranuclear inclusion disease K Fujita, Y Osaki, R Miyamoto, Y Shimatani, T Abe, H Sumikura, ... Neurology: Clinical Practice 7 (6), e39-e42, 2017 | 45 | 2017 |
| Phenotype variability and allelic heterogeneity in KMT2B-Associated disease T Kawarai, R Miyamoto, E Nakagawa, R Koichihara, T Sakamoto, H Mure, ... Parkinsonism & Related Disorders 52, 55-61, 2018 | 42 | 2018 |
| Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient H Morino, R Miyamoto, S Ohnishi, H Maruyama, H Kawakami BMC neurology 14, 1-5, 2014 | 42 | 2014 |
| Deep brain stimulation of the thalamic ventral lateral anterior nucleus for DYT6 dystonia H Mure, R Morigaki, H Koizumi, S Okita, T Kawarai, R Miyamoto, R Kaji, ... Stereotactic and functional neurosurgery 92 (6), 393-396, 2014 | 37 | 2014 |
| The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients K Sugihara, H Maruyama, H Morino, R Miyamoto, H Ueno, M Matsumoto, ... Movement disorders 27 (9), 1158-1163, 2012 | 31 | 2012 |
| Efficacy and safety of ultrahigh-dose methylcobalamin in early-stage amyotrophic lateral sclerosis: a randomized clinical trial R Oki, Y Izumi, K Fujita, R Miyamoto, H Nodera, Y Sato, S Sakaguchi, ... JAMA neurology 79 (6), 575-583, 2022 | 29 | 2022 |
| Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing R Yagi, R Miyamoto, H Morino, Y Izumi, M Kuramochi, T Kurashige, ... Neurobiology of Aging 35 (7), 1780. e1-1780. e5, 2014 | 28 | 2014 |
| Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia H Maruyama, H Morino, R Miyamoto, N Murakami, T Hamano, ... Clinical genetics 85 (3), 296-297, 2014 | 25 | 2014 |
| Late-onset myasthenia gravis is predisposed to become generalized in the elderly W Sakai, N Matsui, M Ishida, T Furukawa, Y Miyazaki, K Fujita, ... Eneurologicalsci 2, 17-20, 2016 | 23 | 2016 |
| Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia R Miyamoto, H Morino, A Yoshizawa, Y Miyazaki, H Maruyama, ... Journal of the neurological sciences 337 (1-2), 219-223, 2014 | 23 | 2014 |
| Choreoathetosis, dystonia, and myoclonus in 3 siblings with autosomal recessive spinocerebellar ataxia type 16 T Kawarai, R Miyamoto, Y Shimatani, A Orlacchio, R Kaji JAMA neurology 73 (7), 888-890, 2016 | 20 | 2016 |
| Oromandibular dystonia associated with SCA36 A Miyashiro, K Sugihara, T Kawarai, R Miyamoto, Y Izumi, H Morino, ... Movement Disorders 28 (4), 558-559, 2013 | 20 | 2013 |
| Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis S Kaji, T Kawarai, R Miyamoto, H Nodera, L Pedace, A Orlacchio, Y Izumi, ... Journal of the Neurological Sciences 364, 45-49, 2016 | 16 | 2016 |
| Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability T Kawarai, C Montecchiani, R Miyamoto, F Gaudiello, C Caltagirone, ... Journal of the neurological sciences 380, 92-97, 2017 | 15 | 2017 |
| Dystonia and cerebellum: From bench to bedside R Morigaki, R Miyamoto, T Matsuda, K Miyake, N Yamamoto, Y Takagi Life 11 (8), 776, 2021 | 13 | 2021 |
| An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP‐43 proteinopathy T Matsubara, Y Izumi, M Oda, M Takahashi, H Maruyama, R Miyamoto, ... Neuropathology 41 (2), 118-126, 2021 | 13 | 2021 |
| Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report K Kume, H Morino, R Miyamoto, Y Matsuda, R Ohsawa, Y Kanaya, ... BMC Medical Genetics 21, 1-4, 2020 | 13 | 2020 |
