Torthaí cuardaigh - Mitsuhiro Kato
- 1 - 20 toradh as 52 á dtaispeáint
- Téigh chuig an gcéad leathanach eile
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1
Lissencephaly and the molecular basis of neuronal migration de réir Mitsuhiro Kato
Foilsithe / Cruthaithe 2003Revisão -
2
KIF1A mutation in a patient with progressive neurodegeneration de réir Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Keiko Yanagihara, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki
Foilsithe / Cruthaithe 2014Artigo -
3
A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome) de réir Mitsuhiro Kato, Shinji Saitoh, Atsushi Kamei, Hideaki Shiraishi, Yuki Ueda, Manami Akasaka, Jun Tohyama, Noriyuki Akasaka, Kiyoshi Hayasaka
Foilsithe / Cruthaithe 2007Artigo -
4
Characteristics of Postictal Headache in Patients with Partial Epilepsy de réir M. Ito, Naoto Adachi, Fumihiko Nakamura, Tsukasa Koyama, Tomonori Okamura, Mitsuhiro Kato, Kousuke Kanemoto, Takashi Nakano, Masato Matsuura, S. Hara
Foilsithe / Cruthaithe 2003Artigo -
5
Effects of sports participation on psychiatric symptoms and brain activations during sports observation in schizophrenia de réir Hidehiko Takahashi, Takeshi Sassa, Tomohisa Shibuya, Mitsuhiro Kato, Michihiko Koeda, Toshiya Murai, Masato Matsuura, Kazuki Asai, Tetsuya Suhara, Yoshiro Okubo
Foilsithe / Cruthaithe 2012Artigo -
6
SPTAN1 encephalopathy: distinct phenotypes and genotypes de réir Jun Tohyama, Mitsuko Nakashima, Shin Nabatame, Ch'ng Gaik-Siew, Rie Miyata, Zvonka Rener‐Primec, Mitsuhiro Kato, Naomichi Matsumoto, Hirotomo Saitsu
Foilsithe / Cruthaithe 2015Revisão -
7
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders de réir Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Noriyuki Akasaka, Shinichi Magara, Hideshi Kawashima, Tsukasa Ohashi, Hideaki Shiraishi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
Foilsithe / Cruthaithe 2015Artigo -
8
De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly de réir Yuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai, Shigeo Yamaoka, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kenji Yokochi, Hitoshi Osaka, Mitsuhiro Kato, Naomichi Matsumoto, Hirotomo Saitsu
Foilsithe / Cruthaithe 2011Artigo -
9
Sirolimus for epileptic seizures associated with focal cortical dysplasia type <scp>II</scp> de réir Mitsuhiro Kato, Akiko Kada, Hideaki Shiraishi, Jun Tohyama, Eiji Nakagawa, Yukitoshi Takahashi, Tomoyuki Akiyama, Akiyoshi Kakita, Noriko Miyake, Atsushi Fujita, Akiko Saito, Yushi Inoue
Foilsithe / Cruthaithe 2022Artigo -
10
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation de réir Hirotomo Saitsu, Jun Tohyama, Tom Walsh, Mitsuhiro Kato, Yu Kobayashi, Ming Lee, Yoshinori Tsurusaki, Noriko Miyake, Yu-ichi Goto, Ichizo Nishino, Akira Ohtake, Mary‐Claire King, Naomichi Matsumoto
Foilsithe / Cruthaithe 2014Artigo -
11
Somatic mutations in <i> <scp>GLI</scp> 3 </i> and <i> <scp>OFD</scp> 1 </i> involved in sonic hedgehog signaling cause hypothalamic hamartoma de réir Hirotomo Saitsu, Masaki Sonoda, Takefumi Higashijima, Hiroshi Shirozu, Hiroshi Masuda, Jun Tohyama, Mitsuhiro Kato, Mitsuko Nakashima, Yoshinori Tsurusaki, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Shigeki Kameyama, Naomichi Matsumoto
Foilsithe / Cruthaithe 2016Artigo -
12
WDR45 mutations in three male patients with West syndrome de réir Mitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, Shinsaku Yoshitomi, Masayuki Shimono, Yoshihiro Aoki, Mitsuhiro Kato, Noriko Aida, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Hitoshi Osaka, Hirotomo Saitsu, Naomichi Matsumoto
Foilsithe / Cruthaithe 2016Revisão -
13
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing de réir Hirotomo Saitsu, Tenpei Akita, Jun Tohyama, Hadassa Goldberg‐Stern, Yu Kobayashi, Roni Cohen, Mitsuhiro Kato, Chihiro Ohba, Satoko Miyatake, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Atsuo Fukuda, Naomichi Matsumoto
Foilsithe / Cruthaithe 2015Artigo -
14
Mislocalization of syntaxin‐1 and impaired neurite growth observed in a human <scp>iPSC</scp> model for <i><scp>STXBP</scp>1</i>‐related epileptic encephalopathy de réir Satoshi Yamashita, Tomohiro Chiyonobu, Michiko Yoshida, Hiroshi Maéda, Masashi Zuiki, Satoshi Kidowaki, Kenichi Isoda, Masafumi Morimoto, Mitsuhiro Kato, Hirotomo Saitsu, Naomichi Matsumoto, Tatsutoshi Nakahata, Megumu K. Saito, Hajime Hosoi
Foilsithe / Cruthaithe 2016Artigo -
15
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency de réir Karin Kojima, Takeshi Nakajima, Naoyuki Taga, Akihiko Miyauchi, Mitsuhiro Kato, Ayumi Matsumoto, Takahiro Ikeda, Kazuyuki Nakamura, Tetsuo Kubota, Hiroaki Mizukami, Sayaka Ono, Y. Onuki, Toshihiko Satō, Hitoshi Osaka, Shin‐ichi Muramatsu, Takanori Yamagata
Foilsithe / Cruthaithe 2018Artigo -
16
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay de réir Hirotomo Saitsu, Miho Watanabe, Tenpei Akita, Chihiro Ohba, Kenji Sugai, Winnie Ong, Hideaki Shiraishi, Shota Yuasa, Hiroshi Matsumoto, Khoo Teik Beng, Shinji Saitoh, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Mitsuhiro Kato, Atsuo Fukuda, Naomichi Matsumoto
Foilsithe / Cruthaithe 2016Artigo -
17
De Novo Mutations in<i>SLC35A2</i>Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy de réir Hirofumi Kodera, Kazuyuki Nakamura, Hitoshi Osaka, Yoshihiro Maegaki, Kazuhiro Haginoya, Shuji Mizumoto, Mitsuhiro Kato, Nobuhiko Okamoto, Mizue Iai, Yukiko Kondo, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Kiyoshi Hayasaka, Kazuyuki Sugahara, Isao Yuasa, Yoshinao Wada, Naomichi Matsumoto, Hirotomo Saitsu
Foilsithe / Cruthaithe 2013Artigo -
18
<i>De novo</i> variants in <i><scp>CAMK</scp>2A</i> and <i><scp>CAMK</scp>2B</i> cause neurodevelopmental disorders de réir Tenpei Akita, Kazushi Aoto, Mitsuhiro Kato, Masaaki Shiina, Hiroki Mutoh, Mitsuko Nakashima, Ichiro Kuki, Shin Okazaki, Shinichi Magara, Takashi Shiihara, Kenji Yokochi, Kaori Aiba, Jun Tohyama, Chihiro Ohba, Satoko Miyatake, Noriko Miyake, Kazuhiro Ogata, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
Foilsithe / Cruthaithe 2018Artigo -
19
<i><scp>GRIN</scp>1</i> mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders de réir Chihiro Ohba, Masaaki Shiina, Jun Tohyama, Kazuhiro Haginoya, Tally Lerman‐Sagie, Nobuhiko Okamoto, Lubov Blumkin, Dorit Lev, Souichi Mukaida, Fumihito Nozaki, Mitsugu Uematsu, Akira Onuma, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Fumiaki Tanaka, Mitsuhiro Kato, Kazuhiro Ogata, Hirotomo Saitsu, Naomichi Matsumoto
Foilsithe / Cruthaithe 2015Artigo -
20
<scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients de réir Toni S. Pearson, Laura Gilbert, Thomas Opladen, Ángeles García‐Cazorla, Mario Mastrangelo, Vincenzo Leuzzi, S K Tay, Jolanta Sykut‐Cegielska, Roser Pons, Saadet Mercimek‐Andrews, Mitsuhiro Kato, Thomas Lücke, Mari Oppebøen, Manju A. Kurian, Dora Steel, Filippo Manti, Kathleen D. Meeks, Kathrin Jeltsch, Lisa Flint
Foilsithe / Cruthaithe 2020Artigo
Uirlisí cuardaigh:
Ábhair a bhaineann le hábhar
Biology
Genetics
Gene
Medicine
Mutation
Neuroscience
Epilepsy
Phenotype
Exome sequencing
Missense mutation
Internal medicine
Psychiatry
Pediatrics
West Syndrome
Encephalopathy
Pathology
Psychology
Disease
Atrophy
Frameshift mutation
Nonsense mutation
Bioinformatics
Genome
Microcephaly
Cell biology
Computational biology
Copy-number variation
Exome
Exon
Haploinsufficiency