155 related articles for article (PubMed ID: 36426838)
21. Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia.
Garanto A; van der Velde-Visser SD; Cremers FPM; Collin RWJ
Adv Exp Med Biol; 2018; 1074():83-89. PubMed ID: 29721931
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy.
Lee J; Lee BL; Lee M; Kim JH; Kim JW; Ki CS
J Neurol Sci; 2009 Jun; 281(1-2):122-4. PubMed ID: 19324374
[TBL] [Abstract][Full Text] [Related]
24. Designing Effective Antisense Oligonucleotides for Exon Skipping.
Shimo T; Maruyama R; Yokota T
Methods Mol Biol; 2018; 1687():143-155. PubMed ID: 29067661
[TBL] [Abstract][Full Text] [Related]
25. [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]
26. Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.
Rodríguez-Pascau L; Coll MJ; Vilageliu L; Grinberg D
Hum Mutat; 2009 Nov; 30(11):E993-E1001. PubMed ID: 19718781
[TBL] [Abstract][Full Text] [Related]
27. New developments in exon skipping and splice modulation therapies for neuromuscular diseases.
Touznik A; Lee JJ; Yokota T
Expert Opin Biol Ther; 2014 Jun; 14(6):809-19. PubMed ID: 24620745
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. [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]
31. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).
Kondo-Iida E; Kobayashi K; Watanabe M; Sasaki J; Kumagai T; Koide H; Saito K; Osawa M; Nakamura Y; Toda T
Hum Mol Genet; 1999 Nov; 8(12):2303-9. PubMed ID: 10545611
[TBL] [Abstract][Full Text] [Related]
32. [Recent Advances in α-dystroglycanopathy].
Kuga A; Kanagawa M; Toda T
Brain Nerve; 2011 Nov; 63(11):1189-95. PubMed ID: 22068471
[TBL] [Abstract][Full Text] [Related]
33. Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan.
Xiong H; Kobayashi K; Tachikawa M; Manya H; Takeda S; Chiyonobu T; Fujikake N; Wang F; Nishimoto A; Morris GE; Nagai Y; Kanagawa M; Endo T; Toda T
Biochem Biophys Res Commun; 2006 Dec; 350(4):935-41. PubMed ID: 17034757
[TBL] [Abstract][Full Text] [Related]
34. Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center.
Ko YJ; Cho A; Kim WJ; Kim SY; Lim BC; Kim H; Hwang H; Choi JE; Kim KJ; Chae JH
Neuromuscul Disord; 2023 May; 33(5):425-431. PubMed ID: 37087885
[TBL] [Abstract][Full Text] [Related]
35. Homozygous Fukutin Missense Mutation in Two Mexican Siblings with Dilated Cardiomyopathy.
Villarreal-mMolina MT; Rosas-Madrigal S; López-Mora E; Calderón-Avila AL; Rodríguez-Zanella H; Romero-Hidalgo S; Rosendo-Gutierrez R; Carnevale A
Rev Invest Clin; 2020 May; 73(5):. PubMed ID: 33048919
[TBL] [Abstract][Full Text] [Related]
36. Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.
Kanagawa M; Nishimoto A; Chiyonobu T; Takeda S; Miyagoe-Suzuki Y; Wang F; Fujikake N; Taniguchi M; Lu Z; Tachikawa M; Nagai Y; Tashiro F; Miyazaki J; Tajima Y; Takeda S; Endo T; Kobayashi K; Campbell KP; Toda T
Hum Mol Genet; 2009 Feb; 18(4):621-31. PubMed ID: 19017726
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.
Slijkerman RW; Vaché C; Dona M; García-García G; Claustres M; Hetterschijt L; Peters TA; Hartel BP; Pennings RJ; Millan JM; Aller E; Garanto A; Collin RW; Kremer H; Roux AF; Van Wijk E
Mol Ther Nucleic Acids; 2016 Nov; 5(10):e381. PubMed ID: 27802265
[TBL] [Abstract][Full Text] [Related]
39. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.
Kobayashi K; Nakahori Y; Miyake M; Matsumura K; Kondo-Iida E; Nomura Y; Segawa M; Yoshioka M; Saito K; Osawa M; Hamano K; Sakakihara Y; Nonaka I; Nakagome Y; Kanazawa I; Nakamura Y; Tokunaga K; Toda T
Nature; 1998 Jul; 394(6691):388-92. PubMed ID: 9690476
[TBL] [Abstract][Full Text] [Related]
40. A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy.
Kato R; Kawamura J; Sugawara H; Niikawa N; Matsumoto N
Am J Med Genet A; 2004 May; 127A(1):54-57. PubMed ID: 15103718
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
