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Results: 1 to 20 of 45

References for PMC Articles for PubMed (Select 18434328)

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. Epub 2007 Aug 5.

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.

PMID:
17651088
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. Epub 2007 May 29. 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. Epub 2007 Apr 10.

PMID:
17426713
7.

Signaling mechanisms involved in disuse muscle atrophy.

Zhang P, Chen X, Fan M.

Med Hypotheses. 2007;69(2):310-21. Epub 2007 Mar 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. Epub 2006 Jul 7. 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. Epub 2006 Jul 7. Review.

PMID:
16824801
11.

Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions.

Lorenzo O, Urbé S, Clague MJ.

J Cell Sci. 2006 Jul 15;119(Pt 14):2953-9. Epub 2006 Jun 20.

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. Epub 2006 Feb 24.

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. Epub 2005 Dec 19. Review.

PMID:
16361117
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. Epub 2005 Oct 16.

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. Epub 2005 Aug 15.

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.

PMID:
16042307
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. Epub 2005 Feb 27.

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. Epub 2005 Jan 30.

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. Epub 2004 Nov 4.

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. Epub 2004 Jan 12.

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