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Items: 1 to 20 of 212

1.

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

Laporte J, Kress W, Mandel JL.

Ann Neurol. 2001 Jul;50(1):42-6.

PMID:
11456308
2.

A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy.

Hammans SR, Robinson DO, Moutou C, Kennedy CR, Dennis NR, Hughes PJ, Ellison DW.

Neuromuscul Disord. 2000 Feb;10(2):133-7.

PMID:
10714588
3.

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.

Blondeau F, Laporte J, Bodin S, Superti-Furga G, Payrastre B, Mandel JL.

Hum Mol Genet. 2000 Sep 22;9(15):2223-9.

PMID:
11001925
4.

Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations.

Tosch V, Vasli N, Kretz C, Nicot AS, Gasnier C, Dondaine N, Oriot D, Barth M, Puissant H, Romero NB, Bönnemann CG, Heller B, Duval G, Biancalana V, Laporte J.

Neuromuscul Disord. 2010 Jun;20(6):375-81. doi: 10.1016/j.nmd.2010.03.015.

PMID:
20434914
5.

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
6.

Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).

Flex E, De Luca A, D'Apice MR, Buccino A, Dallapiccola B, Novelli G.

Neuromuscul Disord. 2002 Jun;12(5):501-5.

PMID:
12031625
7.

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
8.

X-linked myotubular myopathy: report of a case with novel mutation.

Hortobágyi T, Szabó H, Kovács KS, Bódi I, Bereg E, Katona M, Biancalana V, Túri S, Sztriha L.

J Child Neurol. 2007 Apr;22(4):447-51.

PMID:
17621527
9.

Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system.

Dorchies OM, Laporte J, Wagner S, Hindelang C, Warter JM, Mandel JL, Poindron P.

Neuromuscul Disord. 2001 Nov;11(8):736-46.

PMID:
11595516
10.

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.

Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, Claeys KG, Lacène E, Brochier G, Manéré L, Laforêt P, Eymard B, Guicheney P, Fardeau M, Romero NB.

Acta Neuropathol. 2009 Mar;117(3):283-91. doi: 10.1007/s00401-008-0472-1. Epub 2008 Dec 16.

PMID:
19084976
11.

Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations.

Sutton IJ, Winer JB, Norman AN, Liechti-Gallati S, MacDonald F.

Neurology. 2001 Sep 11;57(5):900-2.

PMID:
11552027
12.

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL.

Hum Genet. 2003 Feb;112(2):135-42. Epub 2002 Nov 28.

PMID:
12522554
13.

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
14.

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.

Buj-Bello A, Biancalana V, Moutou C, Laporte J, Mandel JL.

Hum Mutat. 1999;14(4):320-5.

PMID:
10502779
15.

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
16.

A double mutation in a patient with X-linked myotubular myopathy.

Tachi N, Kozuka N, Chiba S, Miyaji M, Watanabe I.

Pediatr Neurol. 2001 Apr;24(4):297-9.

PMID:
11377105
17.

Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy.

Copley LM, Zhao WD, Kopacz K, Herman GE, Kioschis P, Poustka A, Taudien S, Platzer M.

Am J Med Genet. 2002 Jan 22;107(3):256-8. No abstract available.

PMID:
11807911
18.

The myotubularin family: from genetic disease to phosphoinositide metabolism.

Laporte J, Blondeau F, Buj-Bello A, Mandel JL.

Trends Genet. 2001 Apr;17(4):221-8.

PMID:
11275328
20.

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.

Tanner SM, Schneider V, Thomas NS, Clarke A, Lazarou L, Liechti-Gallati S.

Neuromuscul Disord. 1999 Jan;9(1):41-9.

PMID:
10063835

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