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Items: 1 to 20 of 311

1.

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 Jr.

Hum Mol Genet. 2001 Aug 15;10(17):1761-6.

2.

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.

PMID:
14673575
3.

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.

PMID:
11117547
4.

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 Jr.

Hum Mol Genet. 2004 Sep 15;13(18):1999-2010.

5.

Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.

Figarella-Branger D, Pouget J, Bernard R, Krahn M, Fernandez C, Lévy N, Pellissier JF.

Neurology. 2003 Aug 26;61(4):562-4. Review.

PMID:
12939441
6.
7.

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.

Herrmann R, Straub V, Blank M, Kutzick C, Franke N, Jacob EN, Lenard HG, Kröger S, Voit T.

Hum Mol Genet. 2000 Sep 22;9(15):2335-40.

8.

Dysferlin interacts with affixin (beta-parvin) at the sarcolemma.

Matsuda C, Kameyama K, Tagawa K, Ogawa M, Suzuki A, Yamaji S, Okamoto H, Nishino I, Hayashi YK.

J Neuropathol Exp Neurol. 2005 Apr;64(4):334-40.

9.

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 15;211(1-2):23-8.

PMID:
12767493
10.

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).

Weiler T, Bashir R, Anderson LV, Davison K, Moss JA, Britton S, Nylen E, Keers S, Vafiadaki E, Greenberg CR, Bushby CR, Wrogemann K.

Hum Mol Genet. 1999 May;8(5):871-7.

11.

Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies.

Bönnemann CG, Finkel RS.

Semin Pediatr Neurol. 2002 Jun;9(2):81-99. Review.

PMID:
12139001
12.

Caveolae and caveolin-3 in muscular dystrophy.

Galbiati F, Razani B, Lisanti MP.

Trends Mol Med. 2001 Oct;7(10):435-41. Review.

PMID:
11597517
13.

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M.

Ann Neurol. 2003 Apr;53(4):512-20.

PMID:
12666119
14.

Dysferlin protein analysis in limb-girdle muscular dystrophies.

Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M.

J Mol Neurosci. 2001 Aug;17(1):71-80.

PMID:
11665864
15.

Defective membrane repair in dysferlin-deficient muscular dystrophy.

Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP.

Nature. 2003 May 8;423(6936):168-72.

PMID:
12736685
16.

Dysferlin and the plasma membrane repair in muscular dystrophy.

Bansal D, Campbell KP.

Trends Cell Biol. 2004 Apr;14(4):206-13. Review.

PMID:
15066638
17.

Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.

Flix B, de la Torre C, Castillo J, Casal C, Illa I, Gallardo E.

Int J Biochem Cell Biol. 2013 Aug;45(8):1927-38. doi: 10.1016/j.biocel.2013.06.007.

PMID:
23792176
18.

Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy.

Matsuda C, Aoki M, Hayashi YK, Ho MF, Arahata K, Brown RH Jr.

Neurology. 1999 Sep 22;53(5):1119-22.

PMID:
10496277
19.

Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition.

Capanni C, Sabatelli P, Mattioli E, Ognibene A, Columbaro M, Lattanzi G, Merlini L, Minetti C, Maraldi NM, Squarzoni S.

Exp Mol Med. 2003 Dec 31;35(6):538-44.

20.

Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.

Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, Nylen E, Sukhorukov VS, Poleshchuk VV, Markova ED, Wrogemann K.

Neurology. 2000 Dec 26;55(12):1931-3.

PMID:
11134403
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