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Items: 17

1.

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.

Laporte J, Guiraud-Chaumeil C, Vincent MC, Mandel JL, Tanner SM, Liechti-Gallati S, Wallgren-Pettersson C, Dahl N, Kress W, Bolhuis PA, Fardeau M, Samson F, Bertini E.

Hum Mol Genet. 1997 Sep;6(9):1505-11.

PMID:
9305655
2.

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
3.

[Myotubular myopathy].

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

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

PMID:
11119047
4.

[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
5.

X-linked myotubular myopathy: refinement of the critical gene region.

Smolenicka Z, Laporte J, Hu L, Dahl N, Fitzpatrick J, Kress W, Liechti-Gallati S.

Neuromuscul Disord. 1996 Aug;6(4):275-81. Review.

PMID:
8887957
6.

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
7.

[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
8.

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.

9.

Mutations in the candidate gene for Norrie disease.

Berger W, van de Pol D, Warburg M, Gal A, Bleeker-Wagemakers L, de Silva H, Meindl A, Meitinger T, Cremers F, Ropers HH.

Hum Mol Genet. 1992 Oct;1(7):461-5. Review.

PMID:
1307245
10.

[Cousins with X-linked recessive myotubular myopathy].

Mori Y, Kaneko S, Nakayama T, Date M, Nakamoto N, Kobayashi M, Sugiura M, Hashira S, Abe T, Hirokawa H, Nonaka I.

No To Hattatsu. 1997 Jul;29(4):310-4. Review. Japanese.

PMID:
9248291
11.

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
12.

X-linked myotubular myopathy: clinical and pathological findings in a family.

Oldfors A, Kyllerman M, Wahlström J, Darnfors C, Henriksson KG.

Clin Genet. 1989 Jul;36(1):5-14. Review.

PMID:
2670345
13.

Protein tyrosine phosphatase variants in human hereditary disorders and disease susceptibilities.

Hendriks WJ, Pulido R.

Biochim Biophys Acta. 2013 Oct;1832(10):1673-96. doi: 10.1016/j.bbadis.2013.05.022. Review.

14.

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
15.

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.

Laporte J, Bedez F, Bolino A, Mandel JL.

Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R285-92. Review.

PMID:
12925573
16.

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.

17.

The myotubularin family of lipid phosphatases.

Clague MJ, Lorenzo O.

Traffic. 2005 Dec;6(12):1063-9. Review.

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