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6. Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients. Tagawa K; Ogawa M; Kawabe K; Yamanaka G; Matsumura T; Goto K; Nonaka I; Nishino I; Hayashi YK J Neurol Sci; 2003 Jul; 211(1-2):23-8. PubMed ID: 12767493 [TBL] [Abstract][Full Text] [Related]
7. Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy. Kawabe K; Goto K; Nishino I; Angelini C; Hayashi YK Eur J Neurol; 2004 Oct; 11(10):657-61. PubMed ID: 15469449 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. Cagliani R; Fortunato F; Giorda R; Rodolico C; Bonaglia MC; Sironi M; D'Angelo MG; Prelle A; Locatelli F; Toscano A; Bresolin N; Comi GP Neuromuscul Disord; 2003 Dec; 13(10):788-95. PubMed ID: 14678801 [TBL] [Abstract][Full Text] [Related]
10. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Matsuda C; Hayashi YK; Ogawa M; Aoki M; Murayama K; Nishino I; Nonaka I; Arahata K; Brown RH Hum Mol Genet; 2001 Aug; 10(17):1761-6. PubMed ID: 11532985 [TBL] [Abstract][Full Text] [Related]
11. Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding. Wenzel K; Carl M; Perrot A; Zabojszcza J; Assadi M; Ebeling M; Geier C; Robinson PN; Kress W; Osterziel KJ; Spuler S Hum Mutat; 2006 Jun; 27(6):599-600. PubMed ID: 16705711 [TBL] [Abstract][Full Text] [Related]
12. Variable reduction of caveolin-3 in patients with LGMD2B/MM. Walter MC; Braun C; Vorgerd M; Poppe M; Thirion C; Schmidt C; Schreiber H; Knirsch UI; Brummer D; Müller-Felber W; Pongratz D; Müller-Höcker J; Huebner A; Lochmüller H J Neurol; 2003 Dec; 250(12):1431-8. PubMed ID: 14673575 [TBL] [Abstract][Full Text] [Related]
13. [Mutational and clinical features of Japanese patients with dysferlinopathy (Miyoshi myopathy and limb girdle muscular dystrophy type 2B)]. Aoki M; Takahashi T Rinsho Shinkeigaku; 2005 Nov; 45(11):938-42. PubMed ID: 16447768 [TBL] [Abstract][Full Text] [Related]
14. Dysferlin is a plasma membrane protein and is expressed early in human development. Anderson LV; Davison K; Moss JA; Young C; Cullen MJ; Walsh J; Johnson MA; Bashir R; Britton S; Keers S; Argov Z; Mahjneh I; Fougerousse F; Beckmann JS; Bushby KM Hum Mol Genet; 1999 May; 8(5):855-61. PubMed ID: 10196375 [TBL] [Abstract][Full Text] [Related]
15. DYSF mutation analysis in a group of Chinese patients with dysferlinopathy. Zhao Z; Hu J; Sakiyama Y; Okamoto Y; Higuchi I; Li N; Shen H; Takashima H Clin Neurol Neurosurg; 2013 Aug; 115(8):1234-7. PubMed ID: 23254335 [TBL] [Abstract][Full Text] [Related]
16. Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. Diers A; Carl M; Stoltenburg-Didinger G; Vorgerd M; Spuler S Neuromuscul Disord; 2007 Feb; 17(2):157-62. PubMed ID: 17129727 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Vilchez JJ; Gallano P; Gallardo E; Lasa A; Rojas-García R; Freixas A; De Luna N; Calafell F; Sevilla T; Mayordomo F; Baiget M; Illa I Arch Neurol; 2005 Aug; 62(8):1256-9. PubMed ID: 16087766 [TBL] [Abstract][Full Text] [Related]
19. Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. McNally EM; Ly CT; Rosenmann H; Mitrani Rosenbaum S; Jiang W; Anderson LV; Soffer D; Argov Z Am J Med Genet; 2000 Apr; 91(4):305-12. PubMed ID: 10766988 [TBL] [Abstract][Full Text] [Related]
20. Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies. Szymanska S; Rokicki D; Karkucinska-Wieckowska A; Szymanska-Debinska T; Ciara E; Ploski R; Grajkowska W; Pronicki M Folia Neuropathol; 2014; 52(4):452-6. PubMed ID: 25574751 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]