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.
2. Full-length dysferlin expression driven by engineered human dystrophic blood derived CD133+ stem cells. Meregalli M; Navarro C; Sitzia C; Farini A; Montani E; Wein N; Razini P; Beley C; Cassinelli L; Parolini D; Belicchi M; Parazzoli D; Garcia L; Torrente Y FEBS J; 2013 Dec; 280(23):6045-60. PubMed ID: 24028392 [TBL] [Abstract][Full Text] [Related]
3. Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells. Azakir BA; Di Fulvio S; Kinter J; Sinnreich M J Biol Chem; 2012 Mar; 287(13):10344-10354. PubMed ID: 22318734 [TBL] [Abstract][Full Text] [Related]
4. Pilot investigations into the mechanistic basis for adverse effects of glucocorticoids in dysferlinopathy. Lloyd EM; Crew RC; Haynes VR; White RB; Mark PJ; Jackaman C; Papadimitriou JM; Pinniger GJ; Murphy RM; Watt MJ; Grounds MD Skelet Muscle; 2024 Aug; 14(1):19. PubMed ID: 39123261 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. New aspects on patients affected by dysferlin deficient muscular dystrophy. Klinge L; Aboumousa A; Eagle M; Hudson J; Sarkozy A; Vita G; Charlton R; Roberts M; Straub V; Barresi R; Lochmüller H; Bushby K J Neurol Neurosurg Psychiatry; 2010 Sep; 81(9):946-53. PubMed ID: 19528035 [TBL] [Abstract][Full Text] [Related]
7. Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies. Cárdenas AM; González-Jamett AM; Cea LA; Bevilacqua JA; Caviedes P Exp Neurol; 2016 Sep; 283(Pt A):246-54. PubMed ID: 27349407 [TBL] [Abstract][Full Text] [Related]
8. Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Cacciottolo M; Numitone G; Aurino S; Caserta IR; Fanin M; Politano L; Minetti C; Ricci E; Piluso G; Angelini C; Nigro V Eur J Hum Genet; 2011 Sep; 19(9):974-80. PubMed ID: 21522182 [TBL] [Abstract][Full Text] [Related]
9. Dysferlin mutations and mitochondrial dysfunction. Vincent AE; Rosa HS; Alston CL; Grady JP; Rygiel KA; Rocha MC; Barresi R; Taylor RW; Turnbull DM Neuromuscul Disord; 2016 Nov; 26(11):782-788. PubMed ID: 27666772 [TBL] [Abstract][Full Text] [Related]
10. Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation. Fernández G; Arias-Bravo G; Bevilacqua JA; Castillo-Ruiz M; Caviedes P; Sáez JC; Cea LA Biochim Biophys Acta Mol Basis Dis; 2020 Aug; 1866(8):165800. PubMed ID: 32305450 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies. Ten Dam L; van der Kooi AJ; Rövekamp F; Linssen WH; de Visser M Neuromuscul Disord; 2014 Dec; 24(12):1097-102. PubMed ID: 25176504 [TBL] [Abstract][Full Text] [Related]
14. Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. Jaiswal JK; Marlow G; Summerill G; Mahjneh I; Mueller S; Hill M; Miyake K; Haase H; Anderson LV; Richard I; Kiuru-Enari S; McNeil PL; Simon SM; Bashir R Traffic; 2007 Jan; 8(1):77-88. PubMed ID: 17132147 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Dysferlinopathy: a clinical and histopathological study of 28 patients from India. Nalini A; Gayathri N Neurol India; 2008; 56(3):379-85; discussion 386-7. PubMed ID: 18974568 [TBL] [Abstract][Full Text] [Related]
17. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. Ho M; Post CM; Donahue LR; Lidov HG; Bronson RT; Goolsby H; Watkins SC; Cox GA; Brown RH Hum Mol Genet; 2004 Sep; 13(18):1999-2010. PubMed ID: 15254015 [TBL] [Abstract][Full Text] [Related]
18. Reverse engineering gene network identifies new dysferlin-interacting proteins. Cacciottolo M; Belcastro V; Laval S; Bushby K; di Bernardo D; Nigro V J Biol Chem; 2011 Feb; 286(7):5404-13. PubMed ID: 21119217 [TBL] [Abstract][Full Text] [Related]