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Internal Medicine (Tokyo, Japan)|April 23, 2026
A case of adrenomyeloneuropathy with recurrent Mollaret's meningitis due to herpes simplex virus type 2Yumiko Nakamura, Toshiyuki Kakumoto, Munehiro Yoshimoto, et al.Journal of the Peripheral Nervous System : JPNS|May 12, 2023
Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsiesNorifumi Kawamoto, Yuichi Hamada, Shunsuke Kobayashi, et al.European Journal of Human Genetics : EJHG|November 28, 2024
Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese populationToshiyuki Kakumoto, Kenta Orimo, Takashi Matsukawa, et al.European Journal of Medical Genetics|January 3, 2019
CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disabilityYumi Enomoto, Yoshinori Tsurusaki, Takayuki Yokoi, et al.Internal Medicine (Tokyo, Japan)|February 2, 2025
Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed AtaxiaAkihiko Mitsutake, Takashi Matsukawa, Rimi Hino, et al.Journal of Human Genetics|July 17, 2024
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genomeKenta Orimo, Jun Mitsui, Takashi Matsukawa, et al.Journal of Human Genetics|October 11, 2018
PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegiaKishin Koh, Yuta Ichinose, Hiroyuki Ishiura, et al.Journal of Human Genetics|November 10, 2018
Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegiaKishin Koh, Yuta Ichinose, Hiroyuki Ishiura, et al.Internal Medicine (Tokyo, Japan)|June 11, 2019
Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich AtaxiaHiroya Naruse, Yuji Takahashi, Hiroyuki Ishiura, et al.Neurology. Genetics|April 12, 2016
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1Hidehiko Okuma, Fumiaki Saito, Jun Mitsui, et al.Pageof 53