Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease J Sone, S Mitsuhashi, A Fujita, T Mizuguchi, K Hamanaka, K Mori, H Koike, ... Nature genetics 51 (8), 1215-1221, 2019 | 408 | 2019 |
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease J Sone, K Mori, T Inagaki, R Katsumata, S Takagi, S Yokoi, K Araki, T Kato, ... Brain 139 (12), 3170-3186, 2016 | 331 | 2016 |
Disulfide bond mediates aggregation, toxicity, and ubiquitylation of familial amyotrophic lateral sclerosis-linked mutant SOD1 J Niwa, S Yamada, S Ishigaki, J Sone, M Takahashi, M Katsuno, F Tanaka, ... Journal of Biological Chemistry 282 (38), 28087-28095, 2007 | 205 | 2007 |
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease J Sone, F Tanaka, H Koike, A Inukai, M Katsuno, M Yoshida, H Watanabe, ... Neurology 76 (16), 1372-1376, 2011 | 198 | 2011 |
Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy J Sone, N Kitagawa, E Sugawara, M Iguchi, R Nakamura, H Koike, ... Journal of Neurology, Neurosurgery & Psychiatry 85 (3), 354-356, 2014 | 127 | 2014 |
TDP-43 depletion induces neuronal cell damage through dysregulation of Rho family GTPases Y Iguchi, M Katsuno, J Niwa, S Yamada, J Sone, M Waza, H Adachi, ... Journal of Biological Chemistry 284 (33), 22059-22066, 2009 | 119 | 2009 |
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy M Okubo, H Doi, R Fukai, A Fujita, S Mitsuhashi, S Hashiguchi, H Kishida, ... Annals of neurology 86 (6), 962-968, 2019 | 109 | 2019 |
Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: the polyG diseases M Boivin, J Deng, V Pfister, E Grandgirard, M Oulad-Abdelghani, B Morlet, ... Neuron 109 (11), 1825-1835. e5, 2021 | 97 | 2021 |
Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy J Sone, N Hishikawa, H Koike, N Hattori, M Hirayama, M Nagamatsu, ... Neurology 65 (10), 1538-1543, 2005 | 79 | 2005 |
Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort R Nakamura, J Sone, N Atsuta, G Tohnai, H Watanabe, D Yokoi, ... Neurobiology of aging 39, 219. e1-219. e8, 2016 | 74 | 2016 |
Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease S Yokoi, K Yasui, Y Hasegawa, K Niwa, Y Noguchi, T Tsuzuki, M Mimuro, ... Clinical neuropathology 35 (6), 375, 2016 | 65 | 2016 |
c-Abl inhibition delays motor neuron degeneration in the G93A mouse, an animal model of amyotrophic lateral sclerosis R Katsumata, S Ishigaki, M Katsuno, K Kawai, J Sone, Z Huang, H Adachi, ... Public Library of Science 7 (9), e46185, 2012 | 55 | 2012 |
Arterial ketone body ratio as a possible indicator for liver transplantation in fulminant hepatic failure T SAIBARA, S ONISHI, JUN SONE, N YAMAMOTO, Y SHIMAHARA, ... Transplantation 51 (4), 782-785, 1991 | 51 | 1991 |
Quantification of serum 1, 5-anhydroglucitol in uremic and diabetic patients by liquid chromatography/mass spectrometry T Niwa, L Dewald, J Sone, T Miyazaki, M Kajita Clinical chemistry 40 (2), 260-264, 1994 | 50 | 1994 |
Dorfin-CHIP chimeric proteins potently ubiquitylate and degrade familial ALS-related mutant SOD1 proteins and reduce their cellular toxicity S Ishigaki, J Niwa, S Yamada, M Takahashi, T Ito, J Sone, M Doyu, ... Neurobiology of disease 25 (2), 331-341, 2007 | 46 | 2007 |
Memory loss and frontal cognitive dysfunction in a patient with adult-onset neuronal intranuclear inclusion disease K Araki, J Sone, Y Fujioka, M Masuda, R Ohdake, Y Tanaka, T Nakamura, ... Internal Medicine 55 (16), 2281-2284, 2016 | 31 | 2016 |
Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing H Fukuda, D Yamaguchi, K Nyquist, Y Yabuki, S Miyatake, Y Uchiyama, ... Clinical Epigenetics 13, 1-17, 2021 | 27 | 2021 |
A case of neuronal intranuclear inclusion disease with recurrent vomiting and without apparent DWI abnormality for the first seven years S Okamura, M Takahashi, K Abe, A Inaba, J Sone, S Orimo Heliyon 6 (8), 2020 | 26 | 2020 |
FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report M Toko, T Ohshita, T Kurashige, H Morino, K Kume, H Yamashita, ... BMC neurology 21, 1-5, 2021 | 25 | 2021 |
Dorfin ameliorates phenotypes in a transgenic mouse model of amyotrophic lateral sclerosis J Sone, J Niwa, K Kawai, S Ishigaki, S Yamada, H Adachi, M Katsuno, ... Journal of neuroscience research 88 (1), 123-135, 2010 | 25 | 2010 |