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Items: 1 to 20 of 51

1.

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J.

Acta Neuropathol. 2011 Feb;121(2):253-66. doi: 10.1007/s00401-010-0754-2. Epub 2010 Oct 7.

PMID:
20927630
2.

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.

Durieux AC, Vignaud A, Prudhon B, Viou MT, Beuvin M, Vassilopoulos S, Fraysse B, Ferry A, Lainé J, Romero NB, Guicheney P, Bitoun M.

Hum Mol Genet. 2010 Dec 15;19(24):4820-36. doi: 10.1093/hmg/ddq413. Epub 2010 Sep 21.

PMID:
20858595
3.

Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients.

Kenniston JA, Lemmon MA.

EMBO J. 2010 Sep 15;29(18):3054-67. doi: 10.1038/emboj.2010.187. Epub 2010 Aug 10.

4.

Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers.

Wang L, Barylko B, Byers C, Ross JA, Jameson DM, Albanesi JP.

J Biol Chem. 2010 Jul 23;285(30):22753-7. doi: 10.1074/jbc.C110.130013. Epub 2010 Jun 7.

5.

MicroRNA regulatory networks in cardiovascular development.

Liu N, Olson EN.

Dev Cell. 2010 Apr 20;18(4):510-25. doi: 10.1016/j.devcel.2010.03.010. Review.

6.

Mitochondrial DNA alterations and reduced mitochondrial function in aging.

Hebert SL, Lanza IR, Nair KS.

Mech Ageing Dev. 2010 Jul-Aug;131(7-8):451-62. doi: 10.1016/j.mad.2010.03.007. Epub 2010 Mar 20. Review.

7.

Centronuclear myopathies: a widening concept.

Romero NB.

Neuromuscul Disord. 2010 Apr;20(4):223-8. doi: 10.1016/j.nmd.2010.01.014. Epub 2010 Feb 23. Review.

PMID:
20181480
8.

Toll-like receptor 4 modulates skeletal muscle substrate metabolism.

Frisard MI, McMillan RP, Marchand J, Wahlberg KA, Wu Y, Voelker KA, Heilbronn L, Haynie K, Muoio B, Li L, Hulver MW.

Am J Physiol Endocrinol Metab. 2010 May;298(5):E988-98. doi: 10.1152/ajpendo.00307.2009. Epub 2010 Feb 23.

9.

Dynamin 2 and human diseases.

Durieux AC, Prudhon B, Guicheney P, Bitoun M.

J Mol Med (Berl). 2010 Apr;88(4):339-50. doi: 10.1007/s00109-009-0587-4. Epub 2010 Feb 3. Review.

PMID:
20127478
10.

Repairing skeletal muscle: regenerative potential of skeletal muscle stem cells.

Tedesco FS, Dellavalle A, Diaz-Manera J, Messina G, Cossu G.

J Clin Invest. 2010 Jan;120(1):11-9. doi: 10.1172/JCI40373. Review.

11.

MicroRNA-206 delays ALS progression and promotes regeneration of neuromuscular synapses in mice.

Williams AH, Valdez G, Moresi V, Qi X, McAnally J, Elliott JL, Bassel-Duby R, Sanes JR, Olson EN.

Science. 2009 Dec 11;326(5959):1549-54. doi: 10.1126/science.1181046.

12.

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.

Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A.

Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18763-8. doi: 10.1073/pnas.0900705106. Epub 2009 Oct 21.

13.

Dynamins at a glance.

Heymann JA, Hinshaw JE.

J Cell Sci. 2009 Oct 1;122(Pt 19):3427-31. doi: 10.1242/jcs.051714. No abstract available.

14.

Mitochondrial function as a determinant of life span.

Lanza IR, Nair KS.

Pflugers Arch. 2010 Jan;459(2):277-89. doi: 10.1007/s00424-009-0724-5. Epub 2009 Sep 11. Review.

15.

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.

Bitoun M, Durieux AC, Prudhon B, Bevilacqua JA, Herledan A, Sakanyan V, Urtizberea A, Cartier L, Romero NB, Guicheney P.

Hum Mutat. 2009 Oct;30(10):1419-27. doi: 10.1002/humu.21086.

PMID:
19623537
16.

Mitochondrial alterations in dynamin 2-related centronuclear myopathy.

Zanoteli E, Vergani N, Campos Y, Vainzof M, Oliveira AS, d'Azzo A.

Arq Neuropsiquiatr. 2009 Mar;67(1):102-4. No abstract available.

17.

MicroRNA control of muscle development and disease.

Williams AH, Liu N, van Rooij E, Olson EN.

Curr Opin Cell Biol. 2009 Jun;21(3):461-9. doi: 10.1016/j.ceb.2009.01.029. Epub 2009 Mar 9. Review.

18.

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.

Dowling JJ, Vreede AP, Low SE, Gibbs EM, Kuwada JY, Bonnemann CG, Feldman EL.

PLoS Genet. 2009 Feb;5(2):e1000372. doi: 10.1371/journal.pgen.1000372. Epub 2009 Feb 6.

19.

miRNAS in normal and diseased skeletal muscle.

Eisenberg I, Alexander MS, Kunkel LM.

J Cell Mol Med. 2009 Jan;13(1):2-11. doi: 10.1111/j.1582-4934.2008.00524.x. Review.

20.

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.

Bitoun M, Bevilacqua JA, Eymard B, Prudhon B, Fardeau M, Guicheney P, Romero NB.

Neurology. 2009 Jan 6;72(1):93-5. doi: 10.1212/01.wnl.0000338624.25852.12. No abstract available.

PMID:
19122038

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