1. A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN. Issue 8 (8th January 2016) Authors: Watanabe, Hazuki; Atsuta, Naoki; Hirakawa, Akihiro; Nakamura, Ryoichi; Nakatochi, Masahiro; Ishigaki, Shinsuke; Iida, Aritoshi; Ikegawa, Shiro; Kubo, Michiaki; Yokoi, Daichi; Watanabe, Hirohisa; Ito, Mizuki; Katsuno, Masahisa; Izumi, Yuishin; Morita, Mitsuya; Kanai, Kazuaki; Taniguchi, Akira; Aib... Other Names: Yuasa Tatsuhiko author non-byline.; Kano Takahiro author non-byline.; Sasaki Hidenao author non-byline.; Kato Masaaki author non-byline.; Imai Takashi author non-byline.; Ishihara Tomohiko author non-byline.; Nishizawa Masatoyo author non-byline.; Fujita Yukio author non-byline.; Ikeda Masaki aut... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87:Issue 8(2016) Page Start: 851 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations. Issue 10 (26th July 2013) Authors: Iida, Aritoshi; Simsek‐Kiper, Pelin Özlem; Mizumoto, Shuji; Hoshino, Touma; Elcioglu, Nursel; Horemuzova, Eva; Geiberger, Stefan; Yesil, Gozde; Kayserili, Hülya; Utine, Gülen Eda; Boduroglu, Koray; Watanabe, Shigehiko; Ohashi, Hirofumi; Alanay, Yasemin; Sugahara, Kazuyuki; Nishimura, Gen; Ikegawa... Journal: Human mutation Issue: Volume 34:Issue 10(2013:Oct.) Page Start: 1381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis. Issue 3 (18th January 2017) Authors: Takeda, Kazuki; Kou, Ikuyo; Kawakami, Noriaki; Iida, Aritoshi; Nakajima, Masahiro; Ogura, Yoji; Imagawa, Eri; Miyake, Noriko; Matsumoto, Naomichi; Yasuhiko, Yukuto; Sudo, Hideki; Kotani, Toshiaki; Nakamura, Masaya; Matsumoto, Morio; Watanabe, Kota; Ikegawa, Shiro Journal: Human mutation Issue: Volume 38:Issue 3(2017) Page Start: 317 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cover Image, Volume 38, Issue 3. Issue 3 (8th February 2017) Authors: Takeda, Kazuki; Kou, Ikuyo; Kawakami, Noriaki; Iida, Aritoshi; Nakajima, Masahiro; Ogura, Yoji; Imagawa, Eri; Miyake, Noriko; Matsumoto, Naomichi; Yasuhiko, Yukuto; Sudo, Hideki; Kotani, Toshiaki; Nakamura, Masaya; Matsumoto, Morio; Watanabe, Kota; Ikegawa, Shiro Journal: Human mutation Issue: Volume 38:Issue 3(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cover Image, Volume 38, Issue 3. Issue 3 (March 2017) Authors: Takeda, Kazuki; Kou, Ikuyo; Kawakami, Noriaki; Iida, Aritoshi; Nakajima, Masahiro; Ogura, Yoji; Imagawa, Eri; Miyake, Noriko; Matsumoto, Naomichi; Yasuhiko, Yukuto; Sudo, Hideki; Kotani, Toshiaki; Nakamura, Masaya; Matsumoto, Morio; Watanabe, Kota; Ikegawa, Shiro Journal: Human mutation Issue: Volume 38:Issue 3(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency. Issue 2 (2nd July 2019) Authors: Inoue, Michio; Uchino, Shumpei; Iida, Aritoshi; Noguchi, Satoru; Hayashi, Shinichiro; Takahashi, Tsutomu; Fujii, Katsunori; Komaki, Hirofumi; Takeshita, Eri; Nonaka, Ikuya; Okada, Yukinori; Yoshizawa, Takuya; Van Lommel, Leentje; Schuit, Frans; Goto, Yu‐ichi; Mimaki, Masakazu; Nishino, Ichizo Journal: Annals of neurology Issue: Volume 86:Issue 2(2019) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta. Issue 2 (February 2015) Authors: Cho, Sung Yoon; Asharani, P.V.; Kim, Ok‐Hwa; Iida, Aritoshi; Miyake, Noriko; Matsumoto, Naomichi; Nishimura, Gen; Ki, Chang‐Seok; Hong, Geehay; Kim, Su Jin; Sohn, Young Bae; Park, Sung Won; Lee, Jieun; Kwun, Younghee; Carney, Thomas J.; Huh, Rimm; Ikegawa, Shiro; Jin, Dong‐Kyu Journal: Human mutation Issue: Volume 36:Issue 2(2015:Feb.) Page Start: 191 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity. Issue 8 (7th April 2016) Authors: Iida, Aritoshi; Xing, Weirong; Docx, Martine K F; Nakashima, Tomoki; Wang, Zheng; Kimizuka, Mamori; Van Hul, Wim; Rating, Dietz; Spranger, Jürgen; Ohashi, Hirohumi; Miyake, Noriko; Matsumoto, Naomichi; Mohan, Subburaman; Nishimura, Gen; Mortier, Geert; Ikegawa, Shiro Journal: Journal of medical genetics Issue: Volume 53:Issue 8(2016) Page Start: 568 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy. (28th December 2021) Authors: Ogasawara, Masashi; Eura, Nobuyuki; Nagaoka, Utako; Sato, Tatsuro; Arahata, Hajime; Hayashi, Tomohiro; Okamoto, Tomoko; Takahashi, Yuji; Mori‐Yoshimura, Madoka; Oya, Yasushi; Nakamura, Akinori; Shimazaki, Rui; Sano, Terunori; Kumutpongpanich, Theerawat; Minami, Narihiro; Hayashi, Shinichiro; Nogu... Journal: Neuropathology & applied neurobiology Issue: Volume 48:Number 3(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo‐meta‐epiphyseal dysplasia, short limb‐abnormal calcification type. Issue 2 (13th October 2015) Authors: Mansouri, Maria; Kayserili, Hülya; Elalaoui, Siham Chafai; Nishimura, Gen; Iida, Aritoshi; Lyahyai, Jaber; Miyake, Noriko; Matsumoto, Naomichi; Sefiani, Abdelaziz; Ikegawa, Shiro Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗