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Results: 12


Pathogenic mechanisms in centronuclear myopathies.

Jungbluth H, Gautel M.

Front Aging Neurosci. 2014 Dec 19;6:339. doi: 10.3389/fnagi.2014.00339. eCollection 2014. Review.


Dynamin-2 function and dysfunction along the secretory pathway.

González-Jamett AM, Momboisse F, Haro-Acuña V, Bevilacqua JA, Caviedes P, Cárdenas AM.

Front Endocrinol (Lausanne). 2013 Sep 18;4:126. doi: 10.3389/fendo.2013.00126. Review.


[Structural congenital myopathies].

Erazo-Torricelli R.

Rev Neurol. 2013 Sep 6;57 Suppl 1:S53-64. Review. Spanish.


New horizons for congenital myasthenic syndromes.

Engel AG, Shen XM, Selcen D, Sine S.

Ann N Y Acad Sci. 2012 Dec;1275:54-62. doi: 10.1111/j.1749-6632.2012.06803.x. Review. Erratum in: Ann N Y Acad Sci. 2013 Apr;1283:103.


Defective membrane remodeling in neuromuscular diseases: insights from animal models.

Cowling BS, Toussaint A, Muller J, Laporte J.

PLoS Genet. 2012;8(4):e1002595. doi: 10.1371/journal.pgen.1002595. Epub 2012 Apr 5. Review.


[Congenital myopathies - skeletal muscle diseases related to disorder of actin filament structure and functions].

Robaszkiewicz K, Moraczewska J.

Postepy Hig Med Dosw (Online). 2011 Jun 14;65:347-56. Review. Polish.


Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.

Böhm J, Yiş U, Ortaç R, Cakmakçı H, Kurul SH, Dirik E, Laporte J.

Orphanet J Rare Dis. 2010 Dec 3;5:35. doi: 10.1186/1750-1172-5-35. Review.


Nebulin, a major player in muscle health and disease.

Labeit S, Ottenheijm CA, Granzier H.

FASEB J. 2011 Mar;25(3):822-9. doi: 10.1096/fj.10-157412. Epub 2010 Nov 29. Review.


Lifting the nebula: novel insights into skeletal muscle contractility.

Ottenheijm CA, Granzier H.

Physiology (Bethesda). 2010 Oct;25(5):304-10. doi: 10.1152/physiol.00016.2010. Review.


Inborn errors of energy metabolism associated with myopathies.

Das AM, Steuerwald U, Illsinger S.

J Biomed Biotechnol. 2010;2010:340849. doi: 10.1155/2010/340849. Epub 2010 May 26. Review.


Ryanodine receptor channelopathies.

Betzenhauser MJ, Marks AR.

Pflugers Arch. 2010 Jul;460(2):467-80. doi: 10.1007/s00424-010-0794-4. Epub 2010 Feb 24. Review.

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