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Fukuyama congenital muscular dystrophy,FCMD相关文献:
Fukuyama Congenital Muscular Dystrophy.
Saito K.
2006 Jan 26 [updated 2025 May 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301385
Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.
Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K.
Congenit Anom (Kyoto). 2003 Jun;43(2):97-104. doi: 10.1111/j.1741-4520.2003.tb01033.x.
PMID:12893968
Fukuyama Congenital Muscular Dystrophy.
Agarwal A, Sabat S, Kanekar S.
Cureus. 2022 Feb 4;14(2):e21902. doi: 10.7759/cureus.21902. eCollection 2022 Feb.
PMID:35273857
Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.
Yang H, Kobayashi K, Wang S, Jiao H, Xiao J, Toda T, Wu X, Xiong H.
Brain Dev. 2015 Oct;37(9):880-6. doi: 10.1016/j.braindev.2015.02.010. Epub 2015 Mar 23.
PMID:25814170
Epilepsy in patients with advanced Fukuyama congenital muscular dystrophy.
Kuwayama R, Suzuki Y, Nishikawa M, Kimizu T, Nakajima K, Ikeda T, Mogami Y, Yanagihara K.
Brain Dev. 2021 Jan;43(1):106-110. doi: 10.1016/j.braindev.2020.06.017. Epub 2020 Jul 25.
PMID:32723526
Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy.
Sato T, Awano H, Ishiguro K, Shichiji M, Murakami T, Shirakawa T, Matsuo M, Nagata S, Ishigaki K.
Neuromuscul Disord. 2021 Mar;31(3):194-197. doi: 10.1016/j.nmd.2021.01.005. Epub 2021 Jan 13.
PMID:33563515
National registry of patients with Fukuyama congenital muscular dystrophy in Japan.
Ishigaki K, Ihara C, Nakamura H, Mori-Yoshimura M, Maruo K, Taniguchi-Ikeda M, Kimura E, Murakami T, Sato T, Toda T, Kaiya H, Osawa M.
Neuromuscul Disord. 2018 Oct;28(10):885-893. doi: 10.1016/j.nmd.2018.08.001. Epub 2018 Aug 10.
PMID:30220444
Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration.
Toda T, Kobayashi K.
J Mol Med (Berl). 1999 Dec;77(12):816-23. doi: 10.1007/s001099900065.
PMID:10682317
[Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy].
Ishigaki K.
Brain Nerve. 2016 Feb;68(2):119-27. doi: 10.11477/mf.1416200361.
PMID:26873231
Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy.
Murakami T, Sato T, Adachi M, Ishiguro K, Shichiji M, Tachimori H, Nagata S, Ishigaki K.
Sci Rep. 2021 Dec 20;11(1):24229. doi: 10.1038/s41598-021-03781-z.
PMID:34930981
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