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Items: 1 to 20 of 61

1.

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.

Jin SQ, Yu M, Zhang W, Lyu H, Yuan Y, Wang ZX.

Chin Med J (Engl). 2016 Oct 5;129(19):2287-93. doi: 10.4103/0366-6999.190671.

2.

The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Díaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmüller H, Mendell JR, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S, Stojkovic T, Straub V, Takeda S, Rocha CT, Walter MC, Bushby K; Jain COS Consortium.

Neurol Genet. 2016 Aug 4;2(4):e89. doi: 10.1212/NXG.0000000000000089. eCollection 2016 Aug.

3.

Enhanced Muscular Dystrophy from Loss of Dysferlin Is Accompanied by Impaired Annexin A6 Translocation after Sarcolemmal Disruption.

Demonbreun AR, Allen MV, Warner JL, Barefield DY, Krishnan S, Swanson KE, Earley JU, McNally EM.

Am J Pathol. 2016 Jun;186(6):1610-22. doi: 10.1016/j.ajpath.2016.02.005. Epub 2016 Apr 9.

4.

Full-length Dysferlin Transfer by the Hyperactive Sleeping Beauty Transposase Restores Dysferlin-deficient Muscle.

Escobar H, Schöwel V, Spuler S, Marg A, Izsvák Z.

Mol Ther Nucleic Acids. 2016 Jan 19;5:e277. doi: 10.1038/mtna.2015.52.

5.

Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair.

Matsuda C, Kiyosue K, Nishino I, Goto Y, Hayashi YK.

PLoS Curr. 2015 Oct 29;7. pii: ecurrents.md.5865add2d766f39a0e0411d38a7ba09c. doi: 10.1371/currents.md.5865add2d766f39a0e0411d38a7ba09c.

6.

Plasma Membrane Repair: A Central Process for Maintaining Cellular Homeostasis.

Blazek AD, Paleo BJ, Weisleder N.

Physiology (Bethesda). 2015 Nov;30(6):438-48. doi: 10.1152/physiol.00019.2015. Review.

7.

Calcium signaling in membrane repair.

Cheng X, Zhang X, Yu L, Xu H.

Semin Cell Dev Biol. 2015 Sep;45:24-31. doi: 10.1016/j.semcdb.2015.10.031. Epub 2015 Oct 27. Review.

8.

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.

Petersen JA, Kuntzer T, Fischer D, von der Hagen M, Huebner A, Kana V, Lobrinus JA, Kress W, Rushing EJ, Sinnreich M, Jung HH.

BMC Neurol. 2015 Oct 6;15:182. doi: 10.1186/s12883-015-0449-3.

9.

GRAF1 deficiency blunts sarcolemmal injury repair and exacerbates cardiac and skeletal muscle pathology in dystrophin-deficient mice.

Lenhart KC, O'Neill TJ 4th, Cheng Z, Dee R, Demonbreun AR, Li J, Xiao X, McNally EM, Mack CP, Taylor JM.

Skelet Muscle. 2015 Aug 21;5:27. doi: 10.1186/s13395-015-0054-6. eCollection 2015.

10.

CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy.

Yin X, Wang Q, Chen T, Niu J, Ban R, Liu J, Mao Y, Pu C.

Int J Clin Exp Pathol. 2015 Mar 1;8(3):3069-75. eCollection 2015.

11.

AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models.

Sondergaard PC, Griffin DA, Pozsgai ER, Johnson RW, Grose WE, Heller KN, Shontz KM, Montgomery CL, Liu J, Clark KR, Sahenk Z, Mendell JR, Rodino-Klapac LR.

Ann Clin Transl Neurol. 2015 Mar;2(3):256-70. doi: 10.1002/acn3.172. Epub 2015 Jan 20.

12.

Antisense therapy in neurology.

Lee JJ, Yokota T.

J Pers Med. 2013 Aug 2;3(3):144-76. doi: 10.3390/jpm3030144. Review.

13.

Gene therapy for muscular dystrophy: moving the field forward.

Al-Zaidy S, Rodino-Klapac L, Mendell JR.

Pediatr Neurol. 2014 Nov;51(5):607-18. doi: 10.1016/j.pediatrneurol.2014.08.002. Epub 2014 Aug 7. Review.

14.

Quantitation of the calcium and membrane binding properties of the C2 domains of dysferlin.

Abdullah N, Padmanarayana M, Marty NJ, Johnson CP.

Biophys J. 2014 Jan 21;106(2):382-9. doi: 10.1016/j.bpj.2013.11.4492.

15.

Dysferlin and other non-red cell proteins accumulate in the red cell membrane of Diamond-Blackfan Anemia patients.

Pesciotta EN, Sriswasdi S, Tang HY, Speicher DW, Mason PJ, Bessler M.

PLoS One. 2014 Jan 14;9(1):e85504. doi: 10.1371/journal.pone.0085504. eCollection 2014.

16.

Crystal structures of the human Dysferlin inner DysF domain.

Sula A, Cole AR, Yeats C, Orengo C, Keep NH.

BMC Struct Biol. 2014 Jan 17;14:3. doi: 10.1186/1472-6807-14-3.

17.

Dysferlin is essential for endocytosis in the sea star oocyte.

Oulhen N, Onorato TM, Ramos I, Wessel GM.

Dev Biol. 2014 Apr 1;388(1):94-102. doi: 10.1016/j.ydbio.2013.12.018. Epub 2013 Dec 22.

18.

The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands.

Uaesoontrachoon K, Cha HJ, Ampong B, Sali A, Vandermeulen J, Wei B, Creeden B, Huynh T, Quinn J, Tatem K, Rayavarapu S, Hoffman EP, Nagaraju K.

J Pathol. 2013 Oct;231(2):199-209. doi: 10.1002/path.4207.

19.

Bone marrow transplantation in dysferlin-deficient mice results in a mild functional improvement.

Flix B, Suárez-Calvet X, Díaz-Manera J, Santos-Nogueira E, Mancuso R, Barquinero J, Navas M, Navarro X, Illa I, Gallardo E.

Stem Cells Dev. 2013 Nov 1;22(21):2885-94. doi: 10.1089/scd.2013.0049. Epub 2013 Jul 26.

20.

Dysferlin regulates cell adhesion in human monocytes.

de Morrée A, Flix B, Bagaric I, Wang J, van den Boogaard M, Grand Moursel L, Frants RR, Illa I, Gallardo E, Toes R, van der Maarel SM.

J Biol Chem. 2013 May 17;288(20):14147-57. doi: 10.1074/jbc.M112.448589. Epub 2013 Apr 4.

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