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Naomichi Matsumoto

French Institute of Health and Medical Research

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Publication

Featured researches published by Naomichi Matsumoto.

Archive | 2012

Method for detecting coffin-siris syndrome

Naomichi Matsumoto; 直通 松本; Yoshinori Tsurusaki; 美徳 鶴▲崎▼; Noriko Miyake; 紀子 三宅

Archive | 2008

Method for detecting intractable epilepsy developed in neonatal period and infancy

Naomichi Matsumoto; Hirotomo Saitsu

Archive | 2014

Coffin-siris syndrome detection method

直通 松本; Naomichi Matsumoto; 美徳 鶴▲崎▼; Yoshinori Tsurusaki

Archive | 2013

Case report Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation

Yutaka Nonoda; Yoshiaki Saito; Shigehiro Nagai; Masayuki Sasaki; Toshiyuki Iwasaki; Naomichi Matsumoto; Masahiro Ishii; Hirotomo Saitsu

Archive | 2013

Case report RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy

Tojo Nakayama; Hirotomo Saitsu; Wakaba Endo; Atsuo Kikuchi; Mitsugu Uematsu; Kazuhiro Haginoya; Naomi Hino-Fukuyo; Tomoko Kobayashi; Masaki Iwasaki; Teiji Tominaga; Shigeo Kure; Naomichi Matsumoto

Archive | 2012

Figure 3, Characterization of mutant STXBP1 proteins and mRNAs with aberrant splicing

Hirotomo Saitsu; Mitsuhiro Kato; Naomichi Matsumoto

Archive | 2012

Figure 1, Summary of STXBP1 mutations found in Japanese individuals with OS

Hirotomo Saitsu; Mitsuhiro Kato; Naomichi Matsumoto

Archive | 2012

Procédé de détection du syndrome de coffin-siris

Naomichi Matsumoto; 直通 松本; Yoshinori Tsurusaki; 美徳 鶴▲崎▼; Noriko Miyake; 紀子 三宅

Archive | 2012

Table 1, Summary of Clinical Features of Subjects with STXBP1 Deletion/Mutations

Hirotomo Saitsu; Mitsuhiro Kato; Naomichi Matsumoto

Archive | 2012

Figure 2, Brain MRI scan and EEG of OS patients with STXBP1 aberrations

Hirotomo Saitsu; Mitsuhiro Kato; Naomichi Matsumoto

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Collaboration

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Hirotomo Saitsu

Hamamatsu University

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Mitsuhiro Kato

Showa University

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Norio Niikawa

University of Tokushima

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Noriko Miyake

Nagasaki University

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Yoshinori Tsurusaki

Yokohama City University

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Tohru Ohta

Nagasaki University

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Guillaume Jondeau

Necker-Enfants Malades Hospital

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Atsuo Kikuchi

Tohoku University

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Eiichi Soeda

Kyoto University

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Haruya Sakai

Yokohama City University

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