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Items: 1 to 20 of 45

1.

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.

Bitoun M, Bevilacqua JA, Prudhon B, Maugenre S, Taratuto AL, Monges S, Lubieniecki F, Cances C, Uro-Coste E, Mayer M, Fardeau M, Romero NB, Guicheney P.

Ann Neurol. 2007 Dec;62(6):666-70.

PMID:
17932957
2.

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J.

Nat Genet. 2007 Sep;39(9):1134-9.

PMID:
17676042
3.

Myotubularin lipid phosphatase binds the hVPS15/hVPS34 lipid kinase complex on endosomes.

Cao C, Laporte J, Backer JM, Wandinger-Ness A, Stein MP.

Traffic. 2007 Aug;8(8):1052-67.

4.

Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease.

Fabrizi GM, Ferrarini M, Cavallaro T, Cabrini I, Cerini R, Bertolasi L, Rizzuto N.

Neurology. 2007 Jul 17;69(3):291-5.

PMID:
17636067
5.

Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.

Pierson CR, Agrawal PB, Blasko J, Beggs AH.

Neuromuscul Disord. 2007 Jul;17(7):562-8. Erratum in: Neuromuscul Disord. 2008 Jun;18(6):519.

6.

Sustained AAV-mediated dystrophin expression in a canine model of Duchenne muscular dystrophy with a brief course of immunosuppression.

Wang Z, Kuhr CS, Allen JM, Blankinship M, Gregorevic P, Chamberlain JS, Tapscott SJ, Storb R.

Mol Ther. 2007 Jun;15(6):1160-6.

PMID:
17426713
7.

Signaling mechanisms involved in disuse muscle atrophy.

Zhang P, Chen X, Fan M.

Med Hypotheses. 2007;69(2):310-21. Review.

PMID:
17376604
8.

Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector.

Fougerousse F, Bartoli M, Poupiot J, Arandel L, Durand M, Guerchet N, Gicquel E, Danos O, Richard I.

Mol Ther. 2007 Jan;15(1):53-61.

PMID:
17164775
9.

Myotubularin phosphatases: policing 3-phosphoinositides.

Robinson FL, Dixon JE.

Trends Cell Biol. 2006 Aug;16(8):403-12. Review.

PMID:
16828287
10.

Adeno-associated virus serotypes: vector toolkit for human gene therapy.

Wu Z, Asokan A, Samulski RJ.

Mol Ther. 2006 Sep;14(3):316-27. Review.

11.
12.

Body-wide gene therapy of Duchenne muscular dystrophy in the mdx mouse model.

Denti MA, Rosa A, D'Antona G, Sthandier O, De Angelis FG, Nicoletti C, Allocca M, Pansarasa O, Parente V, Musarò A, Auricchio A, Bottinelli R, Bozzoni I.

Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3758-63.

13.

Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectors.

Blankinship MJ, Gregorevic P, Chamberlain JS.

Mol Ther. 2006 Feb;13(2):241-9. Review.

14.

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P.

Nat Genet. 2005 Nov;37(11):1207-9.

PMID:
16227997
15.

Amelioration of laminin-alpha2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin.

Qiao C, Li J, Zhu T, Draviam R, Watkins S, Ye X, Chen C, Li J, Xiao X.

Proc Natl Acad Sci U S A. 2005 Aug 23;102(34):11999-2004.

16.

X-linked myotubular and centronuclear myopathies.

Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH.

J Neuropathol Exp Neurol. 2005 Jul;64(7):555-64. Review.

17.

Adeno-associated virus serotype 8 efficiently delivers genes to muscle and heart.

Wang Z, Zhu T, Qiao C, Zhou L, Wang B, Zhang J, Chen C, Li J, Xiao X.

Nat Biotechnol. 2005 Mar;23(3):321-8.

PMID:
15735640
18.

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM.

Nat Genet. 2005 Mar;37(3):289-94.

PMID:
15731758
19.

Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping.

Goyenvalle A, Vulin A, Fougerousse F, Leturcq F, Kaplan JC, Garcia L, Danos O.

Science. 2004 Dec 3;306(5702):1796-9.

20.

Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction.

Tsujita K, Itoh T, Ijuin T, Yamamoto A, Shisheva A, Laporte J, Takenawa T.

J Biol Chem. 2004 Apr 2;279(14):13817-24.

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