Jun Sone

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Jun Sone, Satomi Mitsuhashi, Atsushi Fujita et al. · Nature Genetics · 2019 · 509 citations

Life Sciences, Molecular Genetics, Neuroscience +14

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

Jun Sone, Keiko Mori, Tomonori Inagaki et al. · Brain · 2016 · 408 citations · Full text

Medicine, Neurology, Pathology +16

Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease

Jun Sone, Fumiaki Tanaka, Haruki Koike et al. · Neurology · 2011 · 220 citations

Medicine, Neurology, Pathology +14

Disulfide Bond Mediates Aggregation, Toxicity, and Ubiquitylation of Familial Amyotrophic Lateral Sclerosis-linked Mutant SOD1

Jun‐ichi Niwa, Shin‐ichi Yamada, Shinsuke Ishigaki et al. · Journal of Biological Chemistry · 2007 · 174 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases

Manon Boivin, Jianwen Deng, Véronique Pfister et al. · Neuron · 2021 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17