Naomichi Matsumoto
Yokohama City University
H-index: 85
Asia-Japan
Top articles of Naomichi Matsumoto
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome | Journal of Experimental Medicine | Yukiko Takeda Masahiro Ueki Junpei Matsuhiro Erik Walinda Takayuki Tanaka | 2024/6/3 |
Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports | Asian Journal of Endoscopic Surgery | Koichi Deguchi Ryuta Saka Marie Todo Chiyoshi Toyama Miho Watanabe | 2024/1 |
Case report: Neuronal intranuclear inclusion disease initially mimicking reversible cerebral vasoconstriction syndrome: serial neuroimaging findings during an 11-year follow-up | Frontiers in Neurology | Julia Ting Bu Dolores Torres Adam Robinson Corey Malone Juan Carlos Vera | 2023/6/2 |
Abnormal axonal development and severe epileptic phenotype in Dynamin‐1 (DNM1) encephalopathy | Kohei Matsubara Ichiro Kuki Risako Ishioka Naoki Yamada Masataka Fukuoka | 2024/2 | |
Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant | Internal Medicine | Gaku Okumura Katsuya Nakamura Rie Seyama Yuri Uchiyama Jun Shinagawa | 2024/4/1 |
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing | Nucleic Acids Research | Atsushi Hijikata Mikita Suyama Shingo Kikugawa Ryo Matoba Takuya Naruto | 2024/1/11 |
Vantagens do sequenciamento completo do exoma sobre o imunomapeamento em 67 pacientes brasileiros com epidermólise bolhosa | Anais Brasileiros de Dermatologia | Samantha Vernaschi Kelmann Bruno de Oliveira Stephan Silvia Maria de Macedo Barbosa Rita Tiziana Verardo Polastrini Zilda Najjar Prado de Oliveira | 2024/5/1 |
Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan | Journal of human genetics | Keiichi Mizushima Yuka Shibata Shinichi Shirai Masaaki Matsushima Satoko Miyatake | 2024/1 |
A female case of L1 syndrome that may have developed due to skewed X inactivation | Brain and Development | Tatsuo Mori Mutsuki Nakano Takahiro Tayama Aya Goji Yoshihiro Toda | 2024/3/12 |
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt | The American Journal of Human Genetics | James L Shepherdson Katie Hutchison Dilan Wellalage Don George McGillivray Tae-Ik Choi | 2024/2/5 |
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications | American Journal of Medical Genetics Part A | Eriko Nishi Noriko Miyake Rie Kawamura Kana Hosoki Yuiko Hasegawa | 2024/2 |
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features | The Journal of Clinical Investigation | Dong Li Qin Wang Allan Bayat Mark R Battig Yijing Zhou | 2024/1/2 |
A case of bipolar I disorder with a loss-of-function variant of schizophrenia risk gene SETD1A: possible expansion of the relevant clinical spectrum supported by a meta-analysis | Psychiatry and clinical neurosciences | Tomonori Hara An-a Kazuno Tomoko Toyota Junko Ueda Takehiko Shuno | 2024/4/22 |
Long-term remission of VEXAS syndrome achieved by a single course of CHOP therapy: A case report | Modern Rheumatology Case Reports | Yuji Miyoshi Takayasu Kise Kaoru Morita Haruka Okada Ken-Ichi Imadome | 2024/1/1 |
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing | NPJ Genomic Medicine | Satoko Miyatake Eriko Koshimizu Atsushi Fujita Hiroshi Doi Masaki Okubo | 2022/10/26 |
FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients | Journal of Neurology | Masaaki Matsushima Hiroaki Yaguchi Eriko Koshimizu Akihiko Kudo Shinichi Shirai | 2024/3/12 |
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature | European Journal of Medical Genetics | Yuri Sonoda Atsushi Fujita Michiko Torio Takahiko Mukaino Ayumi Sakata | 2024/2/1 |
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability | Journal of Human Genetics | Yuta Inoue Naomi Tsuchida Chong Ae Kim Bruno de Oliveira Stephan Matheus Augusto Araujo Castro | 2024/1/17 |
Perioperative management for fracture in a child with homozygous congenital protein C deficiency | [Rinsho Ketsueki] The Japanese Journal of Clinical Hematology | Satomi Tsuchihashi Haruna Okuno Jun Kawashima Genki Yamato Yoshiyuki Ogawa | 2024/1/1 |
Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report | Brain and Development | Sebastián Silva Mónica Rosas Benjamín Guerra Marión Muñoz Atsushi Fujita | 2024/4/18 |
