1. A familial case of PDE10A‐associated childhood‐onset chorea with bilateral striatal lesions. Issue 1 (22nd November 2017) Authors: Miyatake, Satoko; Koshimizu, Eriko; Shirai, Ikuko; Kumada, Satoko; Nakata, Yasuhiro; Kamemaru, Aiko; Nakashima, Mitsuko; Mizuguchi, Takeshi; Miyake, Noriko; Saitsu, Hirotomo; Matsumoto, Naomichi Journal: Movement disorders Issue: Volume 33:Issue 1(2018) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Association of biallelic RFC1 expansion with early‐onset Parkinson's disease. (12th February 2023) Authors: Ylikotila, Pauli; Sipilä, Jussi; Alapirtti, Tiina; Ahmasalo, Riitta; Koshimizu, Eriko; Miyatake, Satoko; Hurme‐Niiranen, Anri; Siitonen, Ari; Doi, Hiroshi; Tanaka, Fumiaki; Matsumoto, Naomichi; Majamaa, Kari; Kytövuori, Laura Journal: European journal of neurology Issue: Volume 30:Number 5(2023) Page Start: 1256 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic COLGALT1 variants are associated with cerebral small vessel disease. Issue 6 (30th November 2018) Authors: Miyatake, Satoko; Schneeberger, Sacha; Koyama, Norihisa; Yokochi, Kenji; Ohmura, Kayo; Shiina, Masaaki; Mori, Harushi; Koshimizu, Eriko; Imagawa, Eri; Uchiyama, Yuri; Mitsuhashi, Satomi; Frith, Martin C.; Fujita, Atsushi; Satoh, Mai; Taguri, Masataka; Tomono, Yasuko; Takahashi, Keita; Doi, Hirosh... Journal: Annals of neurology Issue: Volume 84:Issue 6(2018) Page Start: 843 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality. Issue 1 (4th August 2021) Authors: Sakamoto, Masamune; Sasaki, Kazunori; Sugie, Atsushi; Nitta, Yohei; Kimura, Tetsuaki; Gürsoy, Semra; Cinleti, Tayfun; Iai, Mizue; Sengoku, Toru; Ogata, Kazuhiro; Suzuki, Atsushi; Okamoto, Nobuhiko; Iwama, Kazuhiro; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Fujita, Atsushi; Hamanaka, Kohe... Journal: Human molecular genetics Issue: Volume 31:Issue 1(2022) Page Start: 69 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. Issue 12 (14th May 2020) Authors: Lehalle, Daphné; Vabres, Pierre; Sorlin, Arthur; Bierhals, Tatjana; Avila, Magali; Carmignac, Virginie; Chevarin, Martin; Torti, Erin; Abe, Yuichi; Bartolomaeus, Tobias; Clayton-Smith, Jill; Cogné, Benjamin; Cusco, Ivon; Duplomb, Laurence; De Bont, Eveline; Duffourd, Yannis; Duijkers, Floor; Elpe... Journal: Journal of medical genetics Issue: Volume 57:Issue 12(2020) Page Start: 808 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS). (February 2019) Authors: Yoshitomi, Shinsaku; Takahashi, Yukitoshi; Imai, Katsumi; Koshimizu, Eriko; Miyatake, Satoko; Nakashima, Mitsuko; Saitsu, Hirotomo; Matsumoto, Naomichi; Kato, Mitsuhiro; Fujita, Takako; Ishii, Atsushi; Hirose, Shinichi; Inoue, Yushi Journal: Seizure Issue: Volume 65(2019) Page Start: 118 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Homozygous splicing mutation in NUP133 causes Galloway–Mowat syndrome. Issue 6 (21st December 2018) Authors: Fujita, Atsushi; Tsukaguchi, Hiroyasu; Koshimizu, Eriko; Nakazato, Hitoshi; Itoh, Kyoko; Kuraoka, Shohei; Komohara, Yoshihiro; Shiina, Masaaki; Nakamura, Shohei; Kitajima, Mika; Tsurusaki, Yoshinori; Miyatake, Satoko; Ogata, Kazuhiro; Iijima, Kazumoto; Matsumoto, Naomichi; Miyake, Noriko Journal: Annals of neurology Issue: Volume 84:Issue 6(2018) Page Start: 814 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Issue 9 (2nd August 2013) Authors: Miyake, Noriko; Koshimizu, Eriko; Okamoto, Nobuhiko; Mizuno, Seiji; Ogata, Tsutomu; Nagai, Toshiro; Kosho, Tomoki; Ohashi, Hirofumi; Kato, Mitsuhiro; Sasaki, Goro; Mabe, Hiroyo; Watanabe, Yoriko; Yoshino, Makoto; Matsuishi, Toyojiro; Takanashi, Jun‐Ichi; Shotelersuk, Vorasuk; Tekin, Mustafa; Ochi... Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗