These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
191 related articles for article (PubMed ID: 24530477)
1. Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. Ismail S; Schaffer AE; Rosti RO; Gleeson JG; Zaki MS Gene; 2014 Apr; 539(2):279-82. PubMed ID: 24530477 [TBL] [Abstract][Full Text] [Related]
2. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. Yis U; Uyanik G; Heck PB; Smitka M; Nobel H; Ebinger F; Dirik E; Feng L; Kurul SH; Brocke K; Unalp A; Özer E; Cakmakci H; Sewry C; Cirak S; Muntoni F; Hehr U; Morris-Rosendahl DJ Neuromuscul Disord; 2011 Jan; 21(1):20-30. PubMed ID: 20961758 [TBL] [Abstract][Full Text] [Related]
3. Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan. Kobayashi K; Kato R; Kondo-Iida E; Taniguchi-Ikeda M; Osawa M; Saito K; Toda T J Hum Genet; 2017 Nov; 62(11):945-948. PubMed ID: 28680109 [TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 25814170 [TBL] [Abstract][Full Text] [Related]
5. Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy. Yoshioka M Brain Dev; 2009 Jun; 31(6):419-22. PubMed ID: 18834683 [TBL] [Abstract][Full Text] [Related]
6. A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene. Costa C; Oliveira J; Gonçalves A; Santos R; Bronze-da-Rocha E; Rebelo O; Pais RP; Fineza I Neuromuscul Disord; 2013 Jul; 23(7):557-61. PubMed ID: 23582336 [TBL] [Abstract][Full Text] [Related]
7. Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. Xiong H; Wang S; Kobayashi K; Jiang Y; Wang J; Chang X; Yuan Y; Liu J; Toda T; Fukuyama Y; Wu X Am J Med Genet A; 2009 Nov; 149A(11):2403-8. PubMed ID: 19842201 [TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 30220444 [TBL] [Abstract][Full Text] [Related]
9. Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy. Kanagawa M; Lu Z; Ito C; Matsuda C; Miyake K; Toda T PLoS One; 2014; 9(9):e106721. PubMed ID: 25198651 [TBL] [Abstract][Full Text] [Related]
10. A new mutation of the fukutin gene in a non-Japanese patient. Silan F; Yoshioka M; Kobayashi K; Simsek E; Tunc M; Alper M; Cam M; Guven A; Fukuda Y; Kinoshita M; Kocabay K; Toda T Ann Neurol; 2003 Mar; 53(3):392-6. PubMed ID: 12601708 [TBL] [Abstract][Full Text] [Related]
11. Functions of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in neuromuscular system and other somatic organs. Yamamoto T; Shibata N; Saito Y; Osawa M; Kobayashi M Cent Nerv Syst Agents Med Chem; 2010 Jun; 10(2):169-79. PubMed ID: 20518731 [TBL] [Abstract][Full Text] [Related]
12. [Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy]. Ishigaki K Brain Nerve; 2016 Feb; 68(2):119-27. PubMed ID: 26873231 [TBL] [Abstract][Full Text] [Related]
13. [Hint and luck for identification of a gene for Fukuyama muscular dystrophy, fukutin]. Toda T Rinsho Shinkeigaku; 2007 Nov; 47(11):743-8. PubMed ID: 18210789 [TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 12893968 [TBL] [Abstract][Full Text] [Related]
15. Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Taniguchi-Ikeda M; Kobayashi K; Kanagawa M; Yu CC; Mori K; Oda T; Kuga A; Kurahashi H; Akman HO; DiMauro S; Kaji R; Yokota T; Takeda S; Toda T Nature; 2011 Oct; 478(7367):127-31. PubMed ID: 21979053 [TBL] [Abstract][Full Text] [Related]
16. Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy. Yoshioka M; Kobayashi K; Toda T Brain Dev; 2017 Nov; 39(10):869-872. PubMed ID: 28629604 [TBL] [Abstract][Full Text] [Related]
17. Peripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report. Jang DH; Sung IY; Ko TS J Child Neurol; 2013 Jan; 28(1):132-7. PubMed ID: 22378666 [TBL] [Abstract][Full Text] [Related]
18. Fukutin mutations in Fukuyama congenital muscular dystrophy do not cause noncompaction. Finsterer J; Zarrouk-Mahjoub S Int J Cardiol; 2016 Dec; 225():75-76. PubMed ID: 27716553 [No Abstract] [Full Text] [Related]
19. 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. PubMed ID: 33563515 [TBL] [Abstract][Full Text] [Related]
20. [Current status and future prospects of research on Fukuyama muscular dystrophy]. Toda T Nihon Rinsho; 2015 Aug; 73(8):1425-36. PubMed ID: 26281700 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]