Akihiro Hashiguchi

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

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Benedikt Schoser, Mark Roberts, Barry J. Byrne et al. · The Lancet Neurology · 2021 · 132 citations · Full text

Pharmacy, Internal Medicine, Pharmacotherapy +3

Mutations in<i>MME</i>cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2

Yujiro Higuchi, Akihiro Hashiguchi, Jun‐Hui Yuan et al. · Annals of Neurology · 2016 · 104 citations · Full text

Medicine, Genetics, Neurology +15

Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan

Akiko Yoshimura, Jun‐Hui Yuan, Akihiro Hashiguchi et al. · Journal of Neurology Neurosurgery & Psychiatry · 2018 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15