תוצאות חיפוש - Kato, Mitsuhiro

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias מאת Kato, Mitsuhiro

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Comparison of an Immunochromatographic Assay Kit with DAS-ELISA for Large-Scale Diagnosis and Molecular Discrimination of Satsuma Dwarf Virus Collected from Citrus Orchards מאת Kato, Mitsuhiro, Tomimura, Kenta, Ishii, Kanako

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Two female siblings with West syndrome: Familial idiopathic West syndrome with genetic susceptibility and variable phenotypic expression מאת Caglayan, Ahmet Okay, Gumus, Hakan, Kato, Mitsuhiro

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A Mutation in the Tubulin-Encoding TUBB3 Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis מאת Fukumura, Shinobu, Kato, Mitsuhiro, Kawamura, Kentaro, Tsuzuki, Akiko, Tsutsumi, Hiroyuki

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A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3 מאת Abe, Kazuo, Ando, Kumiko, Kato, Mitsuhiro, Saitsu, Hirotomo, Nakashima, Mitsuko, Aoki, Shintaro, Kimura, Takashi

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A recurrent homozygous NHLRC1 variant in siblings with Lafora disease מאת Araya, Nami, Takahashi, Yukitoshi, Shimono, Masayuki, Fukuda, Tomofumi, Kato, Mitsuhiro, Nakashima, Mitsuko, Matsumoto, Naomichi, Saitsu, Hirotomo

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Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant מאת Sugawara, Yuji, Mizuno, Tomoko, Moriyama, Kengo, Ishiwata, Hisako, Kato, Mitsuhiro, Nakashima, Mitsuko, Mizuguchi, Takeshi, Matsumoto, Naomichi

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A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome) מאת Kato, Mitsuhiro , Saitoh, Shinji , Kamei, Atsushi , Shiraishi, Hideaki , Ueda, Yuki , Akasaka, Manami , Tohyama, Jun , Akasaka, Noriyuki , Hayasaka, Kiyoshi 

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De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly מאת Yoneda, Yuriko, Haginoya, Kazuhiro, Arai, Hiroshi, Yamaoka, Shigeo, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Yokochi, Kenji, Osaka, Hitoshi, Kato, Mitsuhiro, Matsumoto, Naomichi, Saitsu, Hirotomo

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Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy מאת Tsutsumi, Makiko, Yokoi, Setsuri, Miya, Fuyuki, Miyata, Masafumi, Kato, Mitsuhiro, Okamoto, Nobuhiko, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Saitoh, Shinji, Kurahashi, Hiroki

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Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia מאת Hiromoto, Yoshitaka, Azuma, Yoshiteru, Suzuki, Yuichi, Hoshina, Megumi, Uchiyama, Yuri, Mitsuhashi, Satomi, Miyatake, Satoko, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Kato, Mitsuhiro, Matsumoto, Naomichi

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Sirolimus for epileptic seizures associated with focal cortical dysplasia type II מאת Kato, Mitsuhiro, Kada, Akiko, Shiraishi, Hideaki, Tohyama, Jun, Nakagawa, Eiji, Takahashi, Yukitoshi, Akiyama, Tomoyuki, Kakita, Akiyoshi, Miyake, Noriko, Fujita, Atsushi, Saito, Akiko M., Inoue, Yushi

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Truncating mutation in NFIA causes brain malformation and urinary tract defects מאת 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

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

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

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

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

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

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Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic l-amino acid decarboxylase deficiency מאת Onuki, Yoshiyuki, Ono, Sayaka, Nakajima, Takeshi, Kojima, Karin, Taga, Naoyuki, Ikeda, Takahiro, Kuwajima, Mari, Kurokawa, Yoshie, Kato, Mitsuhiro, Kawai, Kensuke, Osaka, Hitoshi, Sato, Toshihiko, Muramatsu, Shin-ichi, Yamagata, Takanori

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PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy מאת 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

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