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Items: 1 to 20 of 42

1.

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.

Herman GE, Kopacz K, Zhao W, Mills PL, Metzenberg A, Das S.

Hum Mutat. 2002 Feb;19(2):114-21.

PMID:
11793470
2.

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
3.

Characterization of an adapter subunit to a phosphatidylinositol (3)P 3-phosphatase: identification of a myotubularin-related protein lacking catalytic activity.

Nandurkar HH, Caldwell KK, Whisstock JC, Layton MJ, Gaudet EA, Norris FA, Majerus PW, Mitchell CA.

Proc Natl Acad Sci U S A. 2001 Aug 14;98(17):9499-504.

4.

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
5.

The role of phosphoinositides in membrane transport.

Simonsen A, Wurmser AE, Emr SD, Stenmark H.

Curr Opin Cell Biol. 2001 Aug;13(4):485-92. Review.

PMID:
11454456
6.

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
7.

PTEN and myotubularin phosphoinositide phosphatases: bringing bioinformatics to the lab bench.

Wishart MJ, Taylor GS, Slama JT, Dixon JE.

Curr Opin Cell Biol. 2001 Apr;13(2):172-81. Review.

PMID:
11248551
8.

Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy.

Cifuentes-Diaz C, Frugier T, Tiziano FD, Lacène E, Roblot N, Joshi V, Moreau MH, Melki J.

J Cell Biol. 2001 Mar 5;152(5):1107-14.

9.

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.

Puccio H, Simon D, Cossée M, Criqui-Filipe P, Tiziano F, Melki J, Hindelang C, Matyas R, Rustin P, Koenig M.

Nat Genet. 2001 Feb;27(2):181-6.

PMID:
11175786
10.

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
12.

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP.

Nat Genet. 2000 May;25(1):17-9.

PMID:
10802647
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.

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy.

Frugier T, Tiziano FD, Cifuentes-Diaz C, Miniou P, Roblot N, Dierich A, Le Meur M, Melki J.

Hum Mol Genet. 2000 Mar 22;9(5):849-58.

PMID:
10749994
15.

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
16.

Gene targeting restricted to mouse striated muscle lineage.

Miniou P, Tiziano D, Frugier T, Roblot N, Le Meur M, Melki J.

Nucleic Acids Res. 1999 Oct 1;27(19):e27.

17.

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A.

Baghdiguian S, Martin M, Richard I, Pons F, Astier C, Bourg N, Hay RT, Chemaly R, Halaby G, Loiselet J, Anderson LV, Lopez de Munain A, Fardeau M, Mangeat P, Beckmann JS, Lefranc G.

Nat Med. 1999 May;5(5):503-11. No abstract available. Erratum in: Nat Med 1999 Jul;5(7):849.

PMID:
10229226
18.

Medical complications in long-term survivors with X-linked myotubular myopathy.

Herman GE, Finegold M, Zhao W, de Gouyon B, Metzenberg A.

J Pediatr. 1999 Feb;134(2):206-14.

PMID:
9931531
19.

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.

Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL.

Hum Mol Genet. 1998 Oct;7(11):1703-12.

PMID:
9736772
20.

The role of immunocytochemistry in congenital myopathies.

Sewry CA.

Neuromuscul Disord. 1998 Aug;8(6):394-400. Review.

PMID:
9713857

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