Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias

gan Kato, Mitsuhiro
Cyhoeddwyd yn Front Neurosci (2015)

Comparison of an Immunochromatographic Assay Kit with DAS-ELISA for Large-Scale Diagnosis and Molecular Discrimination of Satsuma Dwarf Virus Collected from Citrus Orchards

gan Kato, Mitsuhiro, Tomimura, Kenta, Ishii, Kanako
Cyhoeddwyd yn Plant Pathol J (2020)

Two female siblings with West syndrome: Familial idiopathic West syndrome with genetic susceptibility and variable phenotypic expression

gan Caglayan, Ahmet Okay, Gumus, Hakan, Kato, Mitsuhiro
Cyhoeddwyd 2010

A Mutation in the Tubulin-Encoding TUBB3 Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis

gan Fukumura, Shinobu, Kato, Mitsuhiro, Kawamura, Kentaro, Tsuzuki, Akiko, Tsutsumi, Hiroyuki
Cyhoeddwyd yn Child Neurol Open (2016)

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

gan Araya, Nami, Takahashi, Yukitoshi, Shimono, Masayuki, Fukuda, Tomofumi, Kato, Mitsuhiro, Nakashima, Mitsuko, Matsumoto, Naomichi, Saitsu, Hirotomo
Cyhoeddwyd yn Hum Genome Var (2018)

Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant

gan Sugawara, Yuji, Mizuno, Tomoko, Moriyama, Kengo, Ishiwata, Hisako, Kato, Mitsuhiro, Nakashima, Mitsuko, Mizuguchi, Takeshi, Matsumoto, Naomichi
Cyhoeddwyd yn Neurol Genet (2020)

A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)

gan Kato, Mitsuhiro , Saitoh, Shinji , Kamei, Atsushi , Shiraishi, Hideaki , Ueda, Yuki , Akasaka, Manami , Tohyama, Jun , Akasaka, Noriyuki , Hayasaka, Kiyoshi 
Cyhoeddwyd 2007

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

gan Yoneda, Yuriko, Haginoya, Kazuhiro, Arai, Hiroshi, Yamaoka, Shigeo, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Yokochi, Kenji, Osaka, Hitoshi, Kato, Mitsuhiro, Matsumoto, Naomichi, Saitsu, Hirotomo
Cyhoeddwyd 2012

Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy

gan Tsutsumi, Makiko, Yokoi, Setsuri, Miya, Fuyuki, Miyata, Masafumi, Kato, Mitsuhiro, Okamoto, Nobuhiko, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Saitoh, Shinji, Kurahashi, Hiroki
Cyhoeddwyd yn Eur J Hum Genet (2016)

Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia

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

Truncating mutation in NFIA causes brain malformation and urinary tract defects

gan Negishi, Yutaka, Miya, Fuyuki, Hattori, Ayako, Mizuno, Kentaro, Hori, Ikumi, Ando, Naoki, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Saitoh, Shinji
Cyhoeddwyd yn Hum Genome Var (2015)

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

gan 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
Cyhoeddwyd yn BMC Neurol (2019)

Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review

gan Arisaka, Atsuko, Nakashima, Mitsuko, Kumada, Satoko, Inoue, Kenji, Nishida, Hiroya, Mashimo, Hideaki, Kashii, Hirofumi, Kato, Mitsuhiro, Maruyama, Koichi, Okumura, Akihisa, Saitsu, Hirotomo, Matsumoto, Naomichi, Fukuda, Mitsumasa
Cyhoeddwyd yn Epilepsy Behav Rep (2020)

Limb-clasping, cognitive deficit and increased vulnerability to kainic acid-induced seizures in neuronal glycosylphosphatidylinositol deficiency mouse models

gan Kandasamy, Lenin C, Tsukamoto, Mina, Banov, Vitaliy, Tsetsegee, Sambuu, Nagasawa, Yutaro, Kato, Mitsuhiro, Matsumoto, Naomichi, Takeda, Junji, Itohara, Shigeyoshi, Ogawa, Sonoko, Young, Larry J, Zhang, Qi
Cyhoeddwyd yn Hum Mol Genet (2021)

A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations

gan Miya, Fuyuki, Kato, Mitsuhiro, Shiohama, Tadashi, Okamoto, Nobuhiko, Saitoh, Shinji, Yamasaki, Mami, Shigemizu, Daichi, Abe, Tetsuo, Morizono, Takashi, Boroevich, Keith A., Kosaki, Kenjiro, Kanemura, Yonehiro, Tsunoda, Tatsuhiko
Cyhoeddwyd yn Sci Rep (2015)

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

gan 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
Cyhoeddwyd yn Ann Clin Transl Neurol (2016)

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

gan 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
Cyhoeddwyd yn Sci Rep (2015)

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy

gan Shiraku, Hiroshi, Nakashima, Mitsuko, Takeshita, Saoko, Khoo, Chai‐Soon, Haniffa, Muzhirah, Ch'ng, Gaik‐Siew, Takada, Kazuma, Nakajima, Keisuke, Ohta, Masayasu, Okanishi, Tohru, Kanai, Sotaro, Fujimoto, Ayataka, Saitsu, Hirotomo, Matsumoto, Naomichi, Kato, Mitsuhiro
Cyhoeddwyd yn Epilepsia Open (2018)

Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

gan Kojima, Karin, Nakajima, Takeshi, Taga, Naoyuki, Miyauchi, Akihiko, Kato, Mitsuhiro, Matsumoto, Ayumi, Ikeda, Takahiro, Nakamura, Kazuyuki, Kubota, Tetsuo, Mizukami, Hiroaki, Ono, Sayaka, Onuki, Yoshiyuki, Sato, Toshihiko, Osaka, Hitoshi, Muramatsu, Shin-ichi, Yamagata, Takanori
Cyhoeddwyd yn Brain (2019)

TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis

gan Yokoi, Setsuri, Ishihara, Naoko, Miya, Fuyuki, Tsutsumi, Makiko, Yanagihara, Itaru, Fujita, Naoko, Yamamoto, Hiroyuki, Kato, Mitsuhiro, Okamoto, Nobuhiko, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Kojima, Seiji, Saitoh, Shinji, Kurahashi, Hiroki, Natsume, Jun
Cyhoeddwyd yn Sci Rep (2015)