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BMC Neurology|November 4, 2022
Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case reportRyota Kobayashi, Hiroya Naruse, Shinobu Kawakatsu, et al.Annals of Clinical and Translational Neurology|June 8, 2017
Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHHNaoko Saito Sato, Risa Maekawa, Hiroyuki Ishiura, et al.Neuropathology : Official Journal of the Japanese Society of Neuropathology|March 29, 2020
An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory supportAkiko Uchino, Makiko Nagai, Naomi Kanazawa, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 3, 2013
A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2Tsuyoshi Isojima, Koichiro Doi, Jun Mitsui, et al.Human Genome Variation|February 28, 2025
In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophyTakashi Matsukawa, Atsushi Sudo, Toshiyuki Kakumoto, et al.Plos One|February 15, 2013
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patientsAtsushi Ishii, Yoshiaki Saito, Jun Mitsui, et al.The Journal of Pain|April 24, 2004
Successful use of zonisamide for central poststroke painYuji Takahashi, Kouichi Hashimoto, Shoji TsujiJournal of Human Genetics|January 20, 2023
Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorderHiroyuki Ishiura, Shoji Tsuji, Tatsushi TodaMedical Hypotheses|October 23, 2017
Role of gut microbiota in idiopathic nephrotic syndrome in childrenKazunari Kaneko, Shoji Tsuji, Takahisa KimataInternal Medicine (Tokyo, Japan)|September 18, 2013
Adult-onset Huntington's disease that presented without choreaAtsushi Iwata, Kenji Ishihara, Shoji TsujiPageof 53