Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

214 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Molecular genetic analysis of 30 families with Joubert syndrome.
Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N. Suzuki T, et al. Among authors: haginoya k. Clin Genet. 2016 Dec;90(6):526-535. doi: 10.1111/cge.12836. Epub 2016 Sep 26. Clin Genet. 2016. PMID: 27434533
Detection of copy number variations in epilepsy using exome data.
Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Lourenco CM, Yahaya NA, Ch'ng GS, Ngu LH, Fattal-Valevski A, Weisz Hubshman M, Orenstein N, Marom D, Cohen L, Goldberg-Stern H, Uchiyama Y, Imagawa E, Mizuguchi T, Takata A, Miyake N, Nakajima H, Saitsu H, Miyatake S, Matsumoto N. Tsuchida N, et al. Among authors: haginoya k. Clin Genet. 2018 Mar;93(3):577-587. doi: 10.1111/cge.13144. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 28940419
FDG-PET study of patients with Leigh syndrome.
Haginoya K, Kaneta T, Togashi N, Hino-Fukuyo N, Kobayashi T, Uematsu M, Kitamura T, Inui T, Okubo Y, Takezawa Y, Anzai M, Endo W, Miyake N, Saitsu H, Matsumoto N, Kure S. Haginoya K, et al. J Neurol Sci. 2016 Mar 15;362:309-13. doi: 10.1016/j.jns.2016.02.008. Epub 2016 Feb 4. J Neurol Sci. 2016. PMID: 26944169
Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
Yoshimura A, Yuan JH, Hashiguchi A, Hiramatsu Y, Ando M, Higuchi Y, Nakamura T, Okamoto Y, Matsumura K, Hamano T, Sawaura N, Shimatani Y, Kumada S, Okumura Y, Miyahara J, Yamaguchi Y, Kitamura S, Haginoya K, Mitsui J, Ishiura H, Tsuji S, Takashima H. Yoshimura A, et al. Among authors: haginoya k. Clin Genet. 2017 Sep;92(3):274-280. doi: 10.1111/cge.13002. Epub 2017 Apr 19. Clin Genet. 2017. PMID: 28244113
Successful Total Callosotomy in a Patient with Lennox-Gastaut Syndrome and Cardio-Facio-Cutaneous Syndrome.
Kawashima A, Nakamura H, Kodama K, Okubo Y, Endo W, Inui T, Togashi N, Uneoka S, Shibuya M, Oikawa Y, Katata Y, Numata-Uematsu Y, Uematsu M, Kawame H, Osawa SI, Oba D, Niihori T, Aoki Y, Haginoya K. Kawashima A, et al. Among authors: haginoya k. Tohoku J Exp Med. 2024 Dec 19. doi: 10.1620/tjem.2024.J146. Online ahead of print. Tohoku J Exp Med. 2024. PMID: 39694493 Free article. No abstract available.
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.
Nakamura Y, Shimada IS, Maroofian R, Falabella M, Zaki MS, Fujimoto M, Sato E, Takase H, Aoki S, Miyauchi A, Koshimizu E, Miyatake S, Arioka Y, Honda M, Higashi T, Miya F, Okubo Y, Ogawa I, Scardamaglia A, Miryounesi M, Alijanpour S, Ahmadabadi F, Herkenrath P, Dafsari HS, Velmans C, Al Balwi M, Vitobello A, Denommé-Pichon AS, Jeanne M, Civit A, Abdel-Hamid MS, Naderi H, Darvish H, Bakhtiari S, Kruer MC, Carroll CJ, Ghayoor Karimiani E, Khailany RA, Abdulqadir TA, Ozaslan M, Bauer P, Zifarelli G, Seifi T, Zamani M, Al Alam C, Alvi JR, Sultan T, Efthymiou S, Pope SAS, Haginoya K, Matsunaga T, Osaka H, Matsumoto N, Ozaki N, Ohkawa Y, Oki S, Tsunoda T, Pitceathly RDS, Taketomi Y, Houlden H, Murakami M, Kato Y, Saitoh S. Nakamura Y, et al. Among authors: haginoya k. Brain. 2024 Nov 4;147(11):3949-3967. doi: 10.1093/brain/awae185. Brain. 2024. PMID: 39082157 Free PMC article.
Long-term clinical observation of patients with heterozygous KIF1A variants.
Kawashima A, Kodama K, Okubo Y, Endo W, Inui T, Ikeda M, Katata Y, Togashi N, Ohba C, Imagawa E, Iwama K, Mizuguchi T, Kitami M, Aihara Y, Takayama J, Tamiya G, Kikuchi A, Kure S, Saitsu H, Matsumoto N, Haginoya K. Kawashima A, et al. Among authors: haginoya k. Am J Med Genet A. 2024 Oct;194(10):e63656. doi: 10.1002/ajmg.a.63656. Epub 2024 May 17. Am J Med Genet A. 2024. PMID: 38760879
Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report.
Inotani T, Horaguchi A, Morishita Y, Yoshida A, Otomo M, Suzuki M, Inui T, Okubo Y, Komatsu S, Mizuno C, Takahashi Y, Ochiai T, Kinjo T, Asato T, Takayama J, Tamiya G, Saijo N, Kikuchi A, Haginoya K. Inotani T, et al. Among authors: haginoya k. Tohoku J Exp Med. 2024 Apr 24;262(4):239-244. doi: 10.1620/tjem.2024.J004. Epub 2024 Jan 25. Tohoku J Exp Med. 2024. PMID: 38267061 Free article.
Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia.
Sugeno N, Hasegawa T, Haginoya K, Kubota T, Ikeda K, Nakamura T, Ishiyama S, Sato K, Yoshida S, Koshimizu E, Uematsu M, Miyatake S, Matsumoto N, Aoki M. Sugeno N, et al. Among authors: haginoya k. Mol Syndromol. 2023 Dec;14(6):461-468. doi: 10.1159/000530625. Epub 2023 Jun 26. Mol Syndromol. 2023. PMID: 38108041 Free PMC article.
The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy.
Shibuya M, Shichiji M, Ikeda M, Kodama K, Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Nagao M, Sato K, Sato T, Kanzaki M, Segawa O, Masui K, Ishigaki K, Haginoya K. Shibuya M, et al. Among authors: haginoya k. Tohoku J Exp Med. 2024 Jan 23;262(1):29-31. doi: 10.1620/tjem.2023.J094. Epub 2023 Nov 16. Tohoku J Exp Med. 2024. PMID: 37967941 Free article.
214 results