Mitsuko Nakashima

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 37

Top Topics

Botulinum Toxin

Autism Spectrum Disorder

Top Venues

Journal of human genetics

Human genome variation

American journal of medical genetics. Part A

Neurology. Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Shogo Furukawa, Mitsuhiro Kato, Akihiko Ishiyama, Tomohiro Kumada, Takeshi Yoshida, Eri Takeshita, Pin Fee Chong, Hideo Yamanouchi, Yuko Kotake, Takayoshi Kyoda, Toshihiro Nomura, Yohane Miyata, Mitsuko Nakashima, Hirotomo Saitsu
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield. Journal of human genetics (2024)
Shintaro Aoki, Kazuki Watanabe, Mitsuhiro Kato, Yukihiko Konishi, Kazuo Kubota, Emiko Kobayashi, Mitsuko Nakashima, Hirotomo Saitsu
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities. Neurogenetics (2023)
Shogo Furukawa, Mitsuhiro Kato, Toshihiro Nomura, Noriko Sumitomo, Shota Yoneno, Mitsuko Nakashima, Hirotomo Saitsu
Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence. American journal of medical genetics. Part A (2023)
Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus. Human genome variation 10 (1) (2023)
Kazuki Watanabe, Kazuo Kubota, Mitsuko Nakashima, Hirotomo Saitsu
A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1. Human genome variation 10 (1) (2023)
Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura, Sachiko Miyamoto, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome. Journal of human genetics (2023)
Kazuki Watanabe, Mitsuko Nakashima, Rie Wakatsuki, Tomoyasu Bunai, Yasuomi Ouchi, Tomohiko Nakamura, Hiroaki Miyajima, Hirotomo Saitsu
Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo. Neurology. Genetics 8 (3) (2022)
Shogo Furukawa, Sachiko Miyamoto, Shinobu Fukumura, Kazuo Kubota, Toshiaki Taga, Mitsuko Nakashima, Hirotomo Saitsu
Two novel heterozygous variants in ATP1A3 cause movement disorders. Human genome variation 9 (1) (2022)
Yutaro Noguchi, Nodoka Hinokuma, Makiko Tominaga, Sachiko Miyamoto, Mitsuko Nakashima
LAMA1 variants were identified Joubert syndrome patient. Pediatrics international : official journal of the Japan Pediatric Society 64 (1) (2022)
Mitsuko Nakashima, Emanuela Argilli, Sayaka Nakano, Elliott H Sherr, Mitsuhiro Kato, Hirotomo Saitsu
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities. Journal of human genetics (2022)
Marina Hashiguchi, Yukifumi Monden, Yasuyuki Nozaki, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Takanori Yamagata, Hitoshi Osaka
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia. Human genome variation 9 (1) (2022)
Takuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, Kazushi Aoto, Mitsuko Nakashima, Tomomi Yamaguchi, Tomoki Kosho, Tsutomu Ogata, Hirotomo Saitsu
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing. Journal of human genetics 67 (7) (2022)
Takuya Hiraide, Tenpei Akita, Kenji Uematsu, Sachiko Miyamoto, Mitsuko Nakashima, Masayuki Sasaki, Atsuo Fukuda, Mitsuhiro Kato, Hirotomo Saitsu
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome. Journal of human genetics (2022)
Takuya Hiraide, Yohei Masunaga, Akira Honda, Fumiko Kato, Tokiko Fukuda, Maki Fukami, Mitsuko Nakashima, Hirotomo Saitsu, Tsutomu Ogata
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata. Journal of human genetics 67 (5) (2022)
Kazuo Abe, Kumiko Ando, Mitsuhiro Kato, Hirotomo Saitsu, Mitsuko Nakashima, Shintaro Aoki, Takashi Kimura
A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3 . Neurology. Genetics 8 (3) (2022)
Mitsuko Nakashima, Emanuela Argilli, Sayaka Nakano, Elliott H Sherr, Mitsuhiro Kato, Hirotomo Saitsu
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities. Journal of human genetics (2022)
Keisuke Kakizawa, Miho Yamashita, Mitsuko Nakashima, Yuto Kawauchi, Akira Ikeya, Akio Matsushita, Shigekazu Sasaki, Yutaka Oki
Retroperitoneal Paraganglioma With Asymptomatic Follicular Lymphoma: A Case Report. Journal of the Endocrine Society 5 (12) (2021)
Takuya Hiraide, Taihei Tanaka, Yohei Masunaga, Yumiko Ohkubo, Mitsuko Nakashima, Tokiko Fukuda, Tsutomu Ogata, Hirotomo Saitsu
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant. Journal of human genetics 66 (12) (2021)
Hiroki Goto, Masashi Kimura, Junichiro Machida, Akiko Ota, Mitsuko Nakashima, Naomi Tsuchida, Junya Adachi, Yoshihiko Aoki, Tadashi Tatematsu, Katsu Takahashi, Masatoshi Sana, Atsuo Nakayama, Shintaro Suzuki, Toru Nagao, Naomichi Matsumoto, Yoshihito Tokita
A novel LRP6 variant in a Japanese family with oligodontia. Human genome variation 8 (1) (2021)
Kazuki Watanabe, Mitsuko Nakashima, Satoko Kumada, Hideaki Mashimo, Mikako Enokizono, Keitaro Yamada, Mitsuhiro Kato, Hirotomo Saitsu
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review. Journal of human genetics 66 (12) (2021)
Ilaria Parenti, Daphne Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A de Man, Heidi Cope, Vandana Shashi, null null, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frederic Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M B H van de Laar, Marjon A van Slegtenhorst, Philippe M Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J Louie, Michael J Lyons, Amy Dobson, Astrid S Plomp, M Mahdi Motazacker, Frank J Kaiser, Andrew T Timberlake, Sabine A Fuchs, Christel Depienne, Mignot Cyril
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human genetics 140 (7) (2021)
Sachiko Miyamoto, Mitsuhiro Kato, Takuya Hiraide, Tadashi Shiohama, Tomohide Goto, Akira Hojo, Akio Ebata, Manabu Suzuki, Kozue Kobayashi, Pin Fee Chong, Ryutaro Kira, Hiroko Baber Matsushita, Hiroko Ikeda, Kyoko Hoshino, Mayumi Matsufuji, Nobuko Moriyama, Masayuki Furuyama, Tatsuya Yamamoto, Mitsuko Nakashima, Hirotomo Saitsu
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies. Journal of human genetics 66 (11) (2021)
Satoko Miyatake, Mitsuhiro Kato, Takuma Kumamoto, Tomonori Hirose, Eriko Koshimizu, Takaaki Matsui, Hideyuki Takeuchi, Hiroshi Doi, Keisuke Hamada, Mitsuko Nakashima, Kazunori Sasaki, Akio Yamashita, Atsushi Takata, Kohei Hamanaka, Mai Satoh, Takabumi Miyama, Yuri Sonoda, Momoko Sasazuki, Hiroyuki Torisu, Toshiro Hara, Yasunari Sakai, Yushi Noguchi, Mazumi Miura, Yoko Nishimura, Kazuyuki Nakamura, Hideyuki Asai, Nodoka Hinokuma, Fuyuki Miya, Tatushiko Tsunoda, Masami Togawa, Yukihiro Ikeda, Nobusuke Kimura, Kaoru Amemiya, Asako Horino, Masataka Fukuoka, Hiroko Ikeda, Goni Merhav, Nina Ekhilevitch, Masaki Miura, Takeshi Mizuguchi, Noriko Miyake, Atsushi Suzuki, Shouichi Ohga, Hirotomo Saitsu, Hidehisa Takahashi, Fumiaki Tanaka, Kazuhiro Ogata, Chiaki Ohtaka-Maruyama, Naomichi Matsumoto
De novo ATP1A3 variants cause polymicrogyria. Science advances 7 (13) (2021)
Sachiko Miyamoto, Mitsuhiro Kato, Kenji Sugiyama, Ryo Horiguchi, Mitsuko Nakashima, Kazushi Aoto, Hiroki Mutoh, Hirotomo Saitsu
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies. Journal of human genetics 66 (12) (2021)
Hironobu Kobayashi, Tadashi Shiohama, Mitsuko Nakashima, Hirotomo Saitsu, Yasushi Suga, Ryota Ebata, Naoki Shimojo
Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant. American journal of medical genetics. Part A 182 (8) (2020)
Akira Ikeya, Mitsuko Nakashima, Miho Yamashita, Keisuke Kakizawa, Yuta Okawa, Hirotomo Saitsu, Shigekazu Sasaki, Hironobu Sasano, Takafumi Suda, Yutaka Oki
CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant. PloS one 15 (4) (2020)
Takuya Hiraide, Mitsuko Nakashima, Takahiro Ikeda, Daisuke Tanaka, Hitoshi Osaka, Hirotomo Saitsu
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy. Journal of human genetics 65 (10) (2020)
Mitsuko Nakashima, Mitsuhiro Kato, Masaru Matsukura, Ryutaro Kira, Lock-Hock Ngu, Klaske D Lichtenbelt, Koen L I van Gassen, Satomi Mitsuhashi, Hirotomo Saitsu, Naomichi Matsumoto
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms. Journal of human genetics 65 (9) (2020)
Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, Matias Wagner, Urania Kotzaeridou, Ines Brösse, Markus Ries, Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Winnie P Ong, Hui Bein Chew, Kavitha Rethanavelu, Emmanuelle Ranza, Xavier Blanc, Yuri Uchiyama, Naomi Tsuchida, Atsushi Fujita, Yoshiteru Azuma, Eriko Koshimizu, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hidehisa Takahashi, Etsuko Miyagi, Yoshinori Tsurusaki, Hiroshi Doi, Masataka Taguri, Stylianos E Antonarakis, Mitsuko Nakashima, Hirotomo Saitsu, Satoko Miyatake, Naomichi Matsumoto
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Human mutation 42 (1) (2020)
Takuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, Kumiko Yanagi, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu
A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder. Molecular genetics & genomic medicine 8 (3) (2020)
Sachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, Takuya Hiraide, Kenji Kurosawa, Toshiyuki Yamamoto, Junichi Takanashi, Hitoshi Osaka, Ken Inoue, Takehiro Miyazaki, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. Molecular genetics & genomic medicine 7 (8) (2019)
Takeshi Mizuguchi, Mitsuko Nakashima, Lip H Moey, Gaik S Ch'ng, Teik-Beng Khoo, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21. Journal of human genetics 64 (4) (2019)
Mitsuko Nakashima, Yutaka Negishi, Ikumi Hori, Ayako Hattori, Shinji Saitoh, Hirotomo Saitsu
A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy. American journal of medical genetics. Part A 179 (4) (2019)
Mitsuko Nakashima, Jun Tohyama, Eiji Nakagawa, Yoshihiro Watanabe, Ch'ng Gaik Siew, Chieng Siik Kwong, Kaori Yamoto, Takuya Hiraide, Tokiko Fukuda, Tadashi Kaname, Kazuhiko Nakabayashi, Kenichiro Hata, Tsutomu Ogata, Hirotomo Saitsu, Naomichi Matsumoto
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. Journal of human genetics 64 (4) (2019)
Takuya Hiraide, Hikari Kaba Yasui, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly. Journal of human genetics 64 (11) (2019)
Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-Ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. Nature communications 10 (1) (2019)
Mitsuko Nakashima, Kazuhiro Ogata, Hirotomo Saitsu, Naomichi Matsumoto
Reply to "Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders". Annals of neurology 86 (5) (2019)