1. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. Issue 1 (December 2017) Authors: Negishi, Yutaka; Miya, Fuyuki; Hattori, Ayako; Johmura, Yoshikazu; Nakagawa, Motoo; Ando, Naoki; Hori, Ikumi; Togawa, Takao; Aoyama, Kohei; Ohashi, Kei; Fukumura, Shinobu; Mizuno, Seiji; Umemura, Ayako; Kishimoto, Yoko; Okamoto, Nobuhiko; Kato, Mitsuhiro; Tsunoda, Tatsuhiko; Yamasaki, Mami; Kanem... Journal: BMC medical genetics Issue: Volume 18:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face. Issue 3 (13th December 2021) Authors: Miyake, Noriko; Silva, Sebastián; Troncoso, Mónica; Okamoto, Nobuhiko; Andachi, Yoshiki; Kato, Mitsuhiro; Iwabuchi, Chisato; Hirose, Mio; Fujita, Atsushi; Uchiyama, Yuri; Matsumoto, Naomichi Journal: Clinical genetics Issue: Volume 101:Issue 3(2022) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A lattice formulation of the ${\mathcal N}=2$ supersymmetric SYK model. (17th December 2018) Authors: Kato, Mitsuhiro; Sakamoto, Makoto; So, Hiroto Journal: Progress of theoretical and experimental physics Issue: Volume 2018:Number 12(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3. (9th June 2022) Authors: Abe, Kazuo; Ando, Kumiko; Kato, Mitsuhiro; Saitsu, Hirotomo; Nakashima, Mitsuko; Aoki, Shintaro; Kimura, Takashi Journal: Neurology Issue: Volume 8:Number 3(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. Issue 4 (12th February 2017) Authors: Takagi, Masaki; Dobashi, Kazushige; Nagahara, Keiko; Kato, Mitsuhiro; Nishimura, Gen; Fukuzawa, Ryuji; Narumi, Satoshi; Hasegawa, Tomonobu Journal: American journal of medical genetics Issue: Volume 173:Issue 4(2017) Page Start: 1071 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology. Issue 10 (4th August 2017) Authors: Okamoto, Nobuhiko; Tsuchiya, Yuki; Miya, Fuyuki; Tsunoda, Tatsuhiko; Yamashita, Kumiko; Boroevich, Keith A.; Kato, Mitsuhiro; Saitoh, Shinji; Yamasaki, Mami; Kanemura, Yonehiro; Kosaki, Kenjiro; Kitagawa, Daiju Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2690 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia. Issue 12 (December 2018) Authors: Miyagawa, Taku; Khor, Seik-Soon; Toyoda, Hiromi; Kanbayashi, Takashi; Imanishi, Aya; Sagawa, Yohei; Kotorii, Nozomu; Kotorii, Tatayu; Ariyoshi, Yu; Hashizume, Yuji; Ogi, Kimihiro; Hiejima, Hiroshi; Kamei, Yuichi; Hida, Akiko; Miyamoto, Masayuki; Ikegami, Azusa; Wada, Yamato; Takami, Masanori; Hig... Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1259 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia. Issue 12 (December 2018) Authors: Miyagawa, Taku; Khor, Seik-Soon; Toyoda, Hiromi; Kanbayashi, Takashi; Imanishi, Aya; Sagawa, Yohei; Kotorii, Nozomu; Kotorii, Tatayu; Ariyoshi, Yu; Hashizume, Yuji; Ogi, Kimihiro; Hiejima, Hiroshi; Kamei, Yuichi; Hida, Akiko; Miyamoto, Masayuki; Ikegami, Azusa; Wada, Yamato; Takami, Masanori; Hig... Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1259 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients. Issue 5 (14th May 2020) Authors: Pearson, Toni S.; Gilbert, Laura; Opladen, Thomas; Garcia‐Cazorla, Angeles; Mastrangelo, Mario; Leuzzi, Vincenzo; Tay, Stacy K. H.; Sykut‐Cegielska, Jolanta; Pons, Roser; Mercimek‐Andrews, Saadet; Kato, Mitsuhiro; Lücke, Thomas; Oppebøen, Mari; Kurian, Manju A.; Steel, Dora; Manti, Filippo; Meeks... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 5(2020) Page Start: 1121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Abnormal pupillary light reflex with chromatic pupillometry in Gaucher disease. (4th February 2014) Authors: Narita, Aya; Shirai, Kentarou; Kubota, Norika; Takayama, Rumiko; Takahashi, Yukitoshi; Onuki, Takanori; Numakura, Chikahiko; Kato, Mitsuhiro; Hamada, Yusuke; Sakai, Norio; Ohno, Atsuko; Asami, Maya; Matsushita, Shoko; Hayashi, Anri; Kumada, Tomohiro; Fujii, Tatsuya; Horino, Asako; Inoue, Takeshi;... Journal: Annals of clinical and translational neurology Issue: Volume 1:Number 2(2014:Feb.) Page Start: 135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗