Naohisa Ueda

GGC Repeat Expansion of <i>NOTCH2NLC</i> in Adult Patients with Leukoencephalopathy

Masaki Okubo, Hiroshi Doi, Ryoko Fukai et al. · Annals of Neurology · 2019 · 120 citations

Life Sciences, Genetics, Molecular Genetics +15

A Novel Mutation in<i>ELOVL4</i>Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia

Kokoro Ozaki, Hiroshi Doi, Jun Mitsui et al. · JAMA Neurology · 2015 · 86 citations

Life Sciences, Genetics, Neurology +17

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita et al. · npj Genomic Medicine · 2022 · 77 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

White matter hyperintensities on MRI in dementia with Lewy bodies, Parkinson's disease with dementia, and Alzheimer's disease

Hideto Joki, Yuichi Higashiyama, Yoshiharu Nakae et al. · Journal of the Neurological Sciences · 2017 · 69 citations

Life Sciences, Neurology, Neuroscience +14

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses

Hiroyuki Ishiura, Yuji Takahashi, Toshihiro Hayashi et al. · Journal of Human Genetics · 2014 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11