Search Results - Azuma, Yoshiteru

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions by Nicole, Sophie, Azuma, Yoshiteru, Bauché, Stéphanie, Eymard, Bruno, Lochmüller, Hanns, Slater, Clarke

Get full text Get full text Get full text

Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report by Miyamoto, Ryosuke, Sada, Jun, Ota, Koki, Kaneko, Kenitiro, Kusano, Hironori, Azuma, Yoshiteru, Okumura, Akihisa

Get full text Get full text Get full text

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes by Azuma, Yoshiteru, Töpf, Ana, Evangelista, Teresinha, Lorenzoni, Paulo José, Roos, Andreas, Viana, Pedro, Inagaki, Hidehito, Kurahashi, Hiroki, Lochmüller, Hanns

Get full text Get full text Get full text

SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome by Rahman, Mohammad Alinoor, Azuma, Yoshiteru, Nasrin, Farhana, Takeda, Jun-ichi, Nazim, Mohammad, Ahsan, Khalid Bin, Masuda, Akio, Engel, Andrew G., Ohno, Kinji

Get full text Get full text Get full text

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

Get full text Get full text Get full text

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy by Hamanaka, Kohei, Imagawa, Eri, Koshimizu, Eriko, Miyatake, Satoko, Tohyama, Jun, Yamagata, Takanori, Miyauchi, Akihiko, Ekhilevitch, Nina, Nakamura, Fumio, Kawashima, Takeshi, Goshima, Yoshio, Mohamed, Ahmad Rithauddin, Ch'ng, Gaik-Siew, Fujita, Atsushi, Azuma, Yoshiteru, Yasuda, Ken, Imamura, Shintaro, Nakashima, Mitsuko, Saitsu, Hirotomo, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Matsumoto, Naomichi

Get full text Get full text Get full text

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants by Hamanaka, Kohei, Miyake, Noriko, Mizuguchi, Takeshi, Miyatake, Satoko, Uchiyama, Yuri, Tsuchida, Naomi, Sekiguchi, Futoshi, Mitsuhashi, Satomi, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamada, Kohei, Sakamoto, Masamune, Fukuda, Hiromi, Ohori, Sachiko, Saida, Ken, Itai, Toshiyuki, Azuma, Yoshiteru, Koshimizu, Eriko, Fujita, Atsushi, Erturk, Biray, Hiraki, Yoko, Ch’ng, Gaik-Siew, Kato, Mitsuhiro, Okamoto, Nobuhiko, Takata, Atsushi, Matsumoto, Naomichi

Get full text Get full text Get full text

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea by Bauché, Stéphanie, O’Regan, Seana, Azuma, Yoshiteru, Laffargue, Fanny, McMacken, Grace, Sternberg, Damien, Brochier, Guy, Buon, Céline, Bouzidi, Nassima, Topf, Ana, Lacène, Emmanuelle, Remerand, Ganaelle, Beaufrere, Anne-Marie, Pebrel-Richard, Céline, Thevenon, Julien, El Chehadeh-Djebbar, Salima, Faivre, Laurence, Duffourd, Yannis, Ricci, Federica, Mongini, Tiziana, Fiorillo, Chiara, Astrea, Guja, Burloiu, Carmen Magdalena, Butoianu, Niculina, Sandu, Carmen, Servais, Laurent, Bonne, Gisèle, Nelson, Isabelle, Desguerre, Isabelle, Nougues, Marie-Christine, Bœuf, Benoit, Romero, Norma, Laporte, Jocelyn, Boland, Anne, Lechner, Doris, Deleuze, Jean-François, Fontaine, Bertrand, Strochlic, Laure, Lochmuller, Hanns, Eymard, Bruno, Mayer, Michèle, Nicole, Sophie

Get full text Get full text Get full text