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Items: 1 to 20 of 38

1.

Centronuclear (myotubular) myopathy.

Jungbluth H, Wallgren-Pettersson C, Laporte J.

Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. Review.

2.

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.

3.

Centronuclear myopathies: a widening concept.

Romero NB.

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

PMID:
20181480
4.

[Congenital myopathies].

Cabello A, Ricoy-Campo JR.

Rev Neurol. 2003 Oct 16-31;37(8):779-86. Review. Spanish.

5.

Clinical and histologic findings in autosomal centronuclear myopathy.

Jeannet PY, Bassez G, Eymard B, Laforêt P, Urtizberea JA, Rouche A, Guicheney P, Fardeau M, Romero NB.

Neurology. 2004 May 11;62(9):1484-90. Review.

PMID:
15136669
6.

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.

7.

[Myotubular myopathy].

Guiraud-Chaumeil C, Laporte J, Mandel JL, Warter JM.

Rev Neurol (Paris). 2000 Nov;156(11):960-4. Review. French.

PMID:
11119047
8.

[Myotubular myopathy. Case report and review of the literature].

Kovács SK, Korcsik J, Szabó H, Bódi I, Katona M, Bereg E, Endreffy E, Túri S, Hortobágyi T, Sztriha L.

Orv Hetil. 2007 Sep 16;148(37):1757-62. Review. Hungarian.

PMID:
17827085
9.

Pathogenic mechanisms in centronuclear myopathies.

Jungbluth H, Gautel M.

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

10.

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

Wallgren-Pettersson C, Clarke A, Samson F, Fardeau M, Dubowitz V, Moser H, Grimm T, Barohn RJ, Barth PG.

J Med Genet. 1995 Sep;32(9):673-9. Review.

11.

[Structural congenital myopathies].

Erazo-Torricelli R.

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

12.

Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature.

Jeub M, Bitoun M, Guicheney P, Kappes-Horn K, Strach K, Druschky KF, Weis J, Fischer D.

Clin Neuropathol. 2008 Nov-Dec;27(6):430-8. Review.

13.

MTM1 mutations in X-linked myotubular myopathy.

Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL.

Hum Mutat. 2000;15(5):393-409. Review.

PMID:
10790201
14.

Nemaline and myotubular myopathies.

Wallgren-Pettersson C.

Semin Pediatr Neurol. 2002 Jun;9(2):132-44. Review.

PMID:
12138997
15.

Myotubular/centronuclear myopathy and central core disease.

Fujimura-Kiyono C, Racz GZ, Nishino I.

Neurol India. 2008 Jul-Sep;56(3):325-32. Review.

16.

Congenital myopathies and related disorders.

Taratuto AL.

Curr Opin Neurol. 2002 Oct;15(5):553-61. Review.

PMID:
12351999
17.

Multi-minicore Disease.

Jungbluth H.

Orphanet J Rare Dis. 2007 Jul 13;2:31. Review.

18.

Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.

Rodríguez Cruz PM, Sewry C, Beeson D, Jayawant S, Squier W, McWilliam R, Palace J.

Neuromuscul Disord. 2014 Dec;24(12):1103-10. doi: 10.1016/j.nmd.2014.07.005. Review.

PMID:
25127990
19.

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.

Lawlor MW, Beggs AH, Buj-Bello A, Childers MK, Dowling JJ, James ES, Meng H, Moore SA, Prasad S, Schoser B, Sewry CA.

J Neuropathol Exp Neurol. 2016 Feb;75(2):102-10. Review. Erratum in: J Neuropathol Exp Neurol. 2016 May;75(5):479.

20.

Respiratory assessment in centronuclear myopathies.

Smith BK, Goddard M, Childers MK.

Muscle Nerve. 2014 Sep;50(3):315-26. doi: 10.1002/mus.24249. Review.

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