1. Cytotoxic edema at onset in West syndrome of unknown etiology: A longitudinal diffusion tensor imaging study. (8th January 2018) Authors: Ogawa, Chikako; Kidokoro, Hiroyuki; Fukasawa, Tatsuya; Yamamoto, Hiroyuki; Ishihara, Naoko; Ito, Yuji; Sakaguchi, Yoko; Okai, Yu; Ohno, Atsuko; Nakata, Tomohiko; Azuma, Yoshiteru; Hattori, Ayako; Kubota, Tetsuo; Tsuji, Takeshi; Hirakawa, Akihiro; Kawai, Hisashi; Natsume, Jun Journal: Epilepsia Issue: Volume 59:issue 2(2018) Page Start: 440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Issue 1 (10th November 2020) Authors: Itai, Toshiyuki; Hamanaka, Kohei; Sasaki, Kazunori; Wagner, Matias; Kotzaeridou, Urania; Brösse, Ines; Ries, Markus; Kobayashi, Yu; Tohyama, Jun; Kato, Mitsuhiro; Ong, Winnie P.; Chew, Hui B.; Rethanavelu, Kavitha; Ranza, Emmanuelle; Blanc, Xavier; Uchiyama, Yuri; Tsuchida, Naomi; Fujita, Atsushi... Journal: Human mutation Issue: Volume 42:Issue 1(2021) Page Start: 66 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses. Issue 1 (11th November 2020) Authors: Uchiyama, Yuri; Yamaguchi, Daisuke; Iwama, Kazuhiro; Miyatake, Satoko; Hamanaka, Kohei; Tsuchida, Naomi; Aoi, Hiromi; Azuma, Yoshiteru; Itai, Toshiyuki; Saida, Ken; Fukuda, Hiromi; Sekiguchi, Futoshi; Sakaguchi, Tomohiro; Lei, Ming; Ohori, Sachiko; Sakamoto, Masamune; Kato, Mitsuhiro; Koike, Taka... Journal: Human mutation Issue: Volume 42:Issue 1(2021) Page Start: 50 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes. (June 2017) Authors: Azuma, Yoshiteru; Töpf, Ana; Evangelista, Teresinha; Lorenzoni, Paulo José; Roos, Andreas; Viana, Pedro; Inagaki, Hidehito; Kurahashi, Hiroki; Lochmüller, Hanns Journal: Neurology Issue: Volume 3:Number 3(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutations in the C‐Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ–MuSK Interaction. Issue 7 (19th April 2013) Authors: Nakata, Tomohiko; Ito, Mikako; Azuma, Yoshiteru; Otsuka, Kenji; Noguchi, Yoichiro; Komaki, Hirofumi; Okumura, Akihisa; Shiraishi, Kazuhiro; Masuda, Akio; Natsume, Jun; Kojima, Seiji; Ohno, Kinji Journal: Human mutation Issue: Volume 34:Issue 7(2013:Jul.) Page Start: 997 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. MYRF is associated with encephalopathy with reversible myelin vacuolization. Issue 1 (14th January 2018) Authors: Kurahashi, Hirokazu; Azuma, Yoshiteru; Masuda, Akio; Okuno, Tatsuya; Nakahara, Eri; Imamura, Takuji; Saitoh, Makiko; Mizuguchi, Masashi; Shimizu, Toshiaki; Ohno, Kinji; Okumura, Akihisa Journal: Annals of neurology Issue: Volume 83:Issue 1(2018) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Prenatal clinical manifestations in individuals with COL4A1/2 variants. Issue 8 (30th July 2020) Authors: Itai, Toshiyuki; Miyatake, Satoko; Taguri, Masataka; Nozaki, Fumihito; Ohta, Masayasu; Osaka, Hitoshi; Morimoto, Masafumi; Tandou, Tomoko; Nohara, Fumikatsu; Takami, Yuichi; Yoshioka, Fumitaka; Shimokawa, Shoko; Okuno-Yuguchi, Jiu; Motobayashi, Mitsuo; Takei, Yuko; Fukuyama, Tetsuhiro; Kumada, Sa... Journal: Journal of medical genetics Issue: Volume 58:Issue 8(2021) Page Start: 505 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Seizure characteristics of epilepsy in childhood after acute encephalopathy with biphasic seizures and late reduced diffusion. (29th June 2015) Authors: Ito, Yuji; Natsume, Jun; Kidokoro, Hiroyuki; Ishihara, Naoko; Azuma, Yoshiteru; Tsuji, Takeshi; Okumura, Akihisa; Kubota, Tetsuo; Ando, Naoki; Saitoh, Shinji; Miura, Kiyokuni; Negoro, Tamiko; Watanabe, Kazuyoshi; Kojima, Seiji Journal: Epilepsia Issue: Volume 56:issue 8(2015:Aug.) Page Start: 1286 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Sodium channel blockers are effective for benign infantile epilepsy. (November 2021) Authors: Numoto, Shingo; Kurahashi, Hirokazu; Takagi, Mizuki; Azuma, Yoshiteru; Iwayama, Hideyuki; Okumura, Akihisa Journal: Seizure Issue: Volume 92(2021) Page Start: 207 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗