BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 27666772)

  • 1. 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]  

  • 2. Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet.
    Barthélémy F; Defour A; Lévy N; Krahn M; Bartoli M
    J Neuromuscul Dis; 2018; 5(1):21-28. PubMed ID: 29480214
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Lipid accumulation in dysferlin-deficient muscles.
    Grounds MD; Terrill JR; Radley-Crabb HG; Robertson T; Papadimitriou J; Spuler S; Shavlakadze T
    Am J Pathol; 2014 Jun; 184(6):1668-76. PubMed ID: 24685690
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
    Gallardo E; de Luna N; Diaz-Manera J; Rojas-García R; Gonzalez-Quereda L; Flix B; de Morrée A; van der Maarel S; Illa I
    PLoS One; 2011; 6(12):e29061. PubMed ID: 22194990
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Dysferlinopathies: Clinical and genetic variability.
    Ivanova A; Smirnikhina S; Lavrov A
    Clin Genet; 2022 Dec; 102(6):465-473. PubMed ID: 36029111
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities.
    Poudel BH; Fletcher S; Wilton SD; Aung-Htut M
    Int J Mol Sci; 2024 May; 25(11):. PubMed ID: 38891760
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study.
    Kesper K; Kornblum C; Reimann J; Lutterbey G; Schröder R; Wattjes MP
    Acta Neurol Scand; 2009 Aug; 120(2):111-8. PubMed ID: 19154541
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mitochondrial dysfunction in myofibrillar myopathy.
    Vincent AE; Grady JP; Rocha MC; Alston CL; Rygiel KA; Barresi R; Taylor RW; Turnbull DM
    Neuromuscul Disord; 2016 Oct; 26(10):691-701. PubMed ID: 27618136
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Treatment with Recombinant Human MG53 Protein Increases Membrane Integrity in a Mouse Model of Limb Girdle Muscular Dystrophy 2B.
    Gushchina LV; Bhattacharya S; McElhanon KE; Choi JH; Manring H; Beck EX; Alloush J; Weisleder N
    Mol Ther; 2017 Oct; 25(10):2360-2371. PubMed ID: 28750735
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.
    Li L; Jing Z; Cheng L; Liu W; Wang H; Xu Y; Zheng X; Yu X; Liu S
    J Gene Med; 2020 Nov; 22(11):e3272. PubMed ID: 32889728
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A promotive effect for halofuginone on membrane repair and synaptotagmin-7 levels in muscle cells of dysferlin-null mice.
    Barzilai-Tutsch H; Dewulf M; Lamaze C; Butler Browne G; Pines M; Halevy O
    Hum Mol Genet; 2018 Aug; 27(16):2817-2829. PubMed ID: 29771357
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.