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214 results

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Page 1
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.
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.
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.
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.
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
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.
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Okubo Y, Shibuya M, Nakamura H, Kawashima A, Kodama K, Endo W, Inui T, Togashi N, Aihara Y, Shirota M, Funayama R, Niihori T, Fujita A, Nakayama K, Aoki Y, Matsumoto N, Kure S, Kikuchi A, Haginoya K. Okubo Y, et al. Among authors: haginoya k. Brain Dev. 2023 Oct;45(9):505-511. doi: 10.1016/j.braindev.2023.06.009. Epub 2023 Jul 12. Brain Dev. 2023. PMID: 37442734
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Sakamoto M, Iwama K, Sasaki M, Ishiyama A, Komaki H, Saito T, Takeshita E, Shimizu-Motohashi Y, Haginoya K, Kobayashi T, Goto T, Tsuyusaki Y, Iai M, Kurosawa K, Osaka H, Tohyama J, Kobayashi Y, Okamoto N, Suzuki Y, Kumada S, Inoue K, Mashimo H, Arisaka A, Kuki I, Saijo H, Yokochi K, Kato M, Inaba Y, Gomi Y, Saitoh S, Shirai K, Morimoto M, Izumi Y, Watanabe Y, Nagamitsu SI, Sakai Y, Fukumura S, Muramatsu K, Ogata T, Yamada K, Ishigaki K, Hirasawa K, Shimoda K, Akasaka M, Kohashi K, Sakakibara T, Ikuno M, Sugino N, Yonekawa T, Gürsoy S, Cinleti T, Kim CA, Teik KW, Yan CM, Haniffa M, Ohba C, Ito S, Saitsu H, Saida K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: haginoya k. Genet Med. 2022 Dec;24(12):2453-2463. doi: 10.1016/j.gim.2022.08.007. Epub 2022 Oct 28. Genet Med. 2022. PMID: 36305856 Free article.
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.
Cances C, Vlodavets D, Comi GP, Masson R, Mazurkiewicz-Bełdzińska M, Saito K, Zanoteli E, Dodman A, El-Khairi M, Gorni K, Gravestock I, Hoffart J, Scalco RS, Darras BT; ANCHOVY Working Group. Cances C, et al. Orphanet J Rare Dis. 2022 Jul 29;17(1):300. doi: 10.1186/s13023-022-02455-x. Orphanet J Rare Dis. 2022. PMID: 35906608 Free PMC article.
214 results