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Items: 10

1.

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.

Buj-Bello A, Laugel V, Messaddeq N, Zahreddine H, Laporte J, Pellissier JF, Mandel JL.

Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15060-5. Epub 2002 Oct 21.

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
3.

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
4.

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.

5.

[X-linked recessive myotubular myopathy with a splice-site mutation in the myotubularin gene].

Watanabe T, Watanabe M, Saito T, Higashitani A, Tanaka S, Nishino I, Nonaka I.

No To Hattatsu. 1998 Nov;30(6):523-7. Review. Japanese.

PMID:
9844418
6.

[Myotubular myopathy].

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

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

PMID:
11119047
7.

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.

8.

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
9.

[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
10.

The myotubularin family: novel phosphoinositide regulators.

Nandurkar HH, Huysmans R.

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

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