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Jun Sone
Jun Sone
Aichi Medical University
Verified email at aichi-med-u.ac.jp
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Year
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
4082019
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
3312016
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
2052007
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
1982011
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
1272014
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
1192009
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
1092019
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
972021
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
792005
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
742016
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
652016
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
552012
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
511991
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
501994
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
462007
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
312016
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
272021
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
262020
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
252021
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
252010
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