Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)

Yazar: Yahikozawa, Hiroyuki, Yoshida, Kunihiro, Sato, Shunichi, Hanyu, Norinao, Doi, Hiroshi, Miyatake, Satoko, Matsumoto, Naomichi
Yayımlandı Hum Genome Var (2015)

Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report

Yazar: Ogasawara, Masashi, Nakagawa, Eiji, Takeshita, Eri, Hamanaka, Kohei, Miyatake, Satoko, Matsumoto, Naomichi, Sasaki, Masayuki
Yayımlandı Mol Syndromol (2020)

Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder

Yazar: Koshimizu, Eriko, Miyatake, Satoko, Okamoto, Nobuhiko, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi
Baskı/Yayın Bilgisi 2013

‘Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing

Yazar: Yoshida, Kunihiro, Miyatake, Satoko, Kinoshita, Tomomi, Doi, Hiroshi, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi
Yayımlandı J Hum Genet (2014)

A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation

Yazar: Shimojima, Keiko, Higashiguchi, Takafumi, Kishimoto, Kanako, Miyatake, Satoko, Miyake, Noriko, Takanashi, Jun-ichi, Matsumoto, Naomichi, Yamamoto, Toshiyuki
Yayımlandı Hum Genome Var (2017)

Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis?

Yazar: Nakagama, Yu, Hamanaka, Kohei, Mimaki, Masakazu, Shintaku, Haruo, Miyatake, Satoko, Matsumoto, Naomichi, Hirohata, Koji, Inuzuka, Ryo, Oka, Akira
Yayımlandı Neurol Genet (2019)

Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report

Yazar: Yotsumoto, Yuka, Harada, Atsuko, Tsugawa, Jiro, Ikura, Yoshihiro, Utsunomiya, Hidetsuna, Miyatake, Satoko, Matsumoto, Naomichi, Kanemura, Yonehiro, Hashimoto-Tamaoki, Tomoko
Yayımlandı Mol Clin Oncol (2020)

Cerebrovascular diseases in two patients with entire NSD1 deletion

Yazar: Itai, Toshiyuki, Miyatake, Satoko, Hatano, Taku, Hattori, Nobutaka, Ohno, Atsuko, Aoki, Yusuke, Itomi, Kazuya, Mori, Harushi, Saitsu, Hirotomo, Matsumoto, Naomichi
Yayımlandı Hum Genome Var (2021)

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads

Yazar: Mitsuhashi, Satomi, Frith, Martin C., Mizuguchi, Takeshi, Miyatake, Satoko, Toyota, Tomoko, Adachi, Hiroaki, Oma, Yoko, Kino, Yoshihiro, Mitsuhashi, Hiroaki, Matsumoto, Naomichi
Yayımlandı Genome Biol (2019)

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

Yazar: Miyatake, Satoko, Okamoto, Nobuhiko, Stark, Zornitza, Nabetani, Makoto, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Mizuguchi, Takeshi, Ohtake, Akira, Saitsu, Hirotomo, Matsumoto, Naomichi
Yayımlandı J Hum Genet (2017)

Epilepsy in Christianson syndrome: Two cases of Lennox–Gastaut syndrome and a review of literature

Yazar: Ikeda, Azusa, Yamamoto, Ayako, Ichikawa, Kazushi, Tsuyusaki, Yu, Tsuji, Megumi, Iai, Mizue, Enomoto, Yumi, Murakami, Hiroaki, Kurosawa, Kenji, Miyatake, Satoko, Matsumoto, Naomichi, Goto, Tomohide
Yayımlandı Epilepsy Behav Rep (2019)

Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia

Yazar: Hiromoto, Yoshitaka, Azuma, Yoshiteru, Suzuki, Yuichi, Hoshina, Megumi, Uchiyama, Yuri, Mitsuhashi, Satomi, Miyatake, Satoko, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Kato, Mitsuhiro, Matsumoto, Naomichi
Yayımlandı Hum Genome Var (2020)

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

Yazar: Den, Kouhei, Kudo, Yosuke, Kato, Mitsuhiro, Watanabe, Kosuke, Doi, Hiroshi, Tanaka, Fumiaki, Oguni, Hirokazu, Miyatake, Satoko, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Mitsuhashi, Satomi, Matsumoto, Naomichi
Yayımlandı BMC Neurol (2019)

Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

Yazar: Uchiyama, Yuri, Nakashima, Mitsuko, Watanabe, Satoshi, Miyajima, Masakazu, Taguri, Masataka, Miyatake, Satoko, Miyake, Noriko, Saitsu, Hirotomo, Mishima, Hiroyuki, Kinoshita, Akira, Arai, Hajime, Yoshiura, Ko–ichiro, Matsumoto, Naomichi
Yayımlandı Sci Rep (2016)

Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

Yazar: Uchiyama, Yuri, Nakashima, Mitsuko, Watanabe, Satoshi, Miyajima, Masakazu, Taguri, Masataka, Miyatake, Satoko, Miyake, Noriko, Saitsu, Hirotomo, Mishima, Hiroyuki, Kinoshita, Akira, Arai, Hajime, Yoshiura, Ko–ichiro, Matsumoto, Naomichi
Yayımlandı Sci Rep (2017)

Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

Yazar: Saitsu, Hirotomo, Sonoda, Masaki, Higashijima, Takefumi, Shirozu, Hiroshi, Masuda, Hiroshi, Tohyama, Jun, Kato, Mitsuhiro, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Kameyama, Shigeki, Matsumoto, Naomichi
Yayımlandı Ann Clin Transl Neurol (2016)

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

Yazar: Saitsu, Hirotomo, Akita, Tenpei, Tohyama, Jun, Goldberg-Stern, Hadassa, Kobayashi, Yu, Cohen, Roni, Kato, Mitsuhiro, Ohba, Chihiro, Miyatake, Satoko, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Fukuda, Atsuo, Matsumoto, Naomichi
Yayımlandı Sci Rep (2015)

MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segment

Yazar: Satake, Tomoko, Yamashita, Kazunari, Hayashi, Kenji, Miyatake, Satoko, Tamura‐Nakano, Miwa, Doi, Hiroshi, Furuta, Yasuhide, Shioi, Go, Miura, Eriko, Takeo, Yukari H, Yoshida, Kunihiro, Yahikozawa, Hiroyuki, Matsumoto, Naomichi, Yuzaki, Michisuke, Suzuki, Atsushi
Yayımlandı EMBO J (2017)

Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

Yazar: Saitsu, Hirotomo, Watanabe, Miho, Akita, Tenpei, Ohba, Chihiro, Sugai, Kenji, Ong, Winnie Peitee, Shiraishi, Hideaki, Yuasa, Shota, Matsumoto, Hiroshi, Beng, Khoo Teik, Saitoh, Shinji, Miyatake, Satoko, Nakashima, Mitsuko, Miyake, Noriko, Kato, Mitsuhiro, Fukuda, Atsuo, Matsumoto, Naomichi
Yayımlandı Sci Rep (2016)

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation

Yazar: Doi, Hiroshi, Ushiyama, Masao, Baba, Takashi, Tani, Katsuko, Shiina, Masaaki, Ogata, Kazuhiro, Miyatake, Satoko, Fukuda-Yuzawa, Yoko, Tsuji, Shoji, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Ikeda, Shu-ichi, Tanaka, Fumiaki, Matsumoto, Naomichi, Yoshida, Kunihiro
Yayımlandı Sci Rep (2014)