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]