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Results: 15

1.

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.

Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD.

Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14697-702. doi: 10.1073/pnas.1003677107. Epub 2010 Aug 3.

PMID:
20682747
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
16042307
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
18817572
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

[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
[PubMed - indexed for MEDLINE]
Free Article
5.

[Myotubular myopathy].

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

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

PMID:
11119047
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

[Congenital myopathies].

Cabello A, Ricoy-Campo JR.

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

PMID:
14593641
[PubMed - indexed for MEDLINE]
Free Article
9.

Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin.

Tronchère H, Buj-Bello A, Mandel JL, Payrastre B.

Cell Mol Life Sci. 2003 Oct;60(10):2084-99. Review.

PMID:
14618257
[PubMed - indexed for MEDLINE]
10.

The myotubularin family: novel phosphoinositide regulators.

Nandurkar HH, Huysmans R.

IUBMB Life. 2002 Jan;53(1):37-43. Review.

PMID:
12018406
[PubMed - indexed for MEDLINE]
11.

The structure and regulation of myotubularin phosphatases.

Begley MJ, Dixon JE.

Curr Opin Struct Biol. 2005 Dec;15(6):614-20. Epub 2005 Nov 9. Review.

PMID:
16289848
[PubMed - indexed for MEDLINE]
12.

Myotubularin phosphoinositide phosphatases in human diseases.

Amoasii L, Hnia K, Laporte J.

Curr Top Microbiol Immunol. 2012;362:209-33. doi: 10.1007/978-94-007-5025-8_10. Review.

PMID:
23086420
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
21129173
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Congenital myopathies: an update.

Nance JR, Dowling JJ, Gibbs EM, Bönnemann CG.

Curr Neurol Neurosci Rep. 2012 Apr;12(2):165-74. doi: 10.1007/s11910-012-0255-x. Review.

PMID:
22392505
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
19130742
[PubMed - indexed for MEDLINE]
Free Article

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