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24. Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. Matsuda C; Aoki M; Hayashi YK; Ho MF; Arahata K; Brown RH Neurology; 1999 Sep; 53(5):1119-22. PubMed ID: 10496277 [TBL] [Abstract][Full Text] [Related]
29. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Liu J; Aoki M; Illa I; Wu C; Fardeau M; Angelini C; Serrano C; Urtizberea JA; Hentati F; Hamida MB; Bohlega S; Culper EJ; Amato AA; Bossie K; Oeltjen J; Bejaoui K; McKenna-Yasek D; Hosler BA; Schurr E; Arahata K; de Jong PJ; Brown RH Nat Genet; 1998 Sep; 20(1):31-6. PubMed ID: 9731526 [TBL] [Abstract][Full Text] [Related]
30. Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy. Ro LS; Lee-Chen GJ; Lin TC; Wu YR; Chen CM; Lin CY; Chen ST Arch Neurol; 2004 Oct; 61(10):1594-9. PubMed ID: 15477515 [TBL] [Abstract][Full Text] [Related]
31. Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. Takahashi T; Aoki M; Tateyama M; Kondo E; Mizuno T; Onodera Y; Takano R; Kawai H; Kamakura K; Mochizuki H; Shizuka-Ikeda M; Nakagawa M; Yoshida Y; Akanuma J; Hoshino K; Saito H; Nishizawa M; Kato S; Saito K; Miyachi T; Yamashita H; Kawai M; Matsumura T; Kuzuhara S; Ibi T; Sahashi K; Nakai H; Kohnosu T; Nonaka I; Arahata K; Brown RH; Saito H; Itoyama Y Neurology; 2003 Jun; 60(11):1799-804. PubMed ID: 12796534 [TBL] [Abstract][Full Text] [Related]
32. Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report. Yan HY; Xie YN; Han JZ; Song XQ J Musculoskelet Neuronal Interact; 2021 Sep; 21(3):397-400. PubMed ID: 34465679 [TBL] [Abstract][Full Text] [Related]
33. Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. Berciano J; Gallardo E; Domínguez-Perles R; Gallardo E; García A; García-Barredo R; Combarros O; Infante J; Illa I J Neurol Neurosurg Psychiatry; 2008 Feb; 79(2):205-8. PubMed ID: 17698502 [TBL] [Abstract][Full Text] [Related]
34. [Distal Miyoshi muscular dystrophy in a Moroccan patient]. Mouton P; Maisonobe T; Behin A; Cohen L; Pierrot-Deseilligny C Presse Med; 1999 Mar; 28(9):476-8. PubMed ID: 10189906 [TBL] [Abstract][Full Text] [Related]
35. [Miyoshi distal myopathy: specific signs and incidence]. Eymard B; Laforêt P; Tomé FM; Collin H; Leroy JP; Hauw JJ; Richard I; Beckmann J; Fardeau M Rev Neurol (Paris); 2000 Feb; 156(2):161-8. PubMed ID: 10743015 [TBL] [Abstract][Full Text] [Related]
36. Dysferlin and the plasma membrane repair in muscular dystrophy. Bansal D; Campbell KP Trends Cell Biol; 2004 Apr; 14(4):206-13. PubMed ID: 15066638 [TBL] [Abstract][Full Text] [Related]
38. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb--girdle muscular dystrophies. Piccolo F; Moore SA; Ford GC; Campbell KP Ann Neurol; 2000 Dec; 48(6):902-12. PubMed ID: 11117547 [TBL] [Abstract][Full Text] [Related]
39. Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy. Suzuki N; Aoki M; Takahashi T; Takano D; Asano M; Shiga Y; Onodera Y; Tateyama M; Itoyama Y Muscle Nerve; 2004 May; 29(5):721-3. PubMed ID: 15116377 [TBL] [Abstract][Full Text] [Related]
40. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Nguyen K; Bassez G; Krahn M; Bernard R; Laforêt P; Labelle V; Urtizberea JA; Figarella-Branger D; Romero N; Attarian S; Leturcq F; Pouget J; Lévy N; Eymard B Arch Neurol; 2007 Aug; 64(8):1176-82. PubMed ID: 17698709 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]