Laporte J - Search Results

1

Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.

Gómez-Oca R, Cowling BS, Laporte J. Gómez-Oca R, et al. Among authors: laporte j. Int J Mol Sci. 2021 Oct 21;22(21):11377. doi: 10.3390/ijms222111377. Int J Mol Sci. 2021. PMID: 34768808 Free PMC article. Review.

2

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.

Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N. Laporte J, et al. Nat Genet. 1996 Jun;13(2):175-82. doi: 10.1038/ng0696-175. Nat Genet. 1996. PMID: 8640223

3

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. Laporte J, et al. Hum Mol Genet. 1997 Sep;6(9):1505-11. doi: 10.1093/hmg/6.9.1505. Hum Mol Genet. 1997. PMID: 9305655

4

Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.

Laporte J, Guiraud-Chaumeil C, Tanner SM, Blondeau F, Hu LJ, Vicaire S, Liechti-Gallati S, Mandel JL. Laporte J, et al. Eur J Hum Genet. 1998 Jul-Aug;6(4):325-30. doi: 10.1038/sj.ejhg.5200189. Eur J Hum Genet. 1998. PMID: 9781038

5

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. Buj-Bello A, et al. Among authors: laporte j. Hum Mutat. 1999;14(4):320-5. doi: 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O. Hum Mutat. 1999. PMID: 10502779

6

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. Laporte J, et al. Hum Mutat. 2000;15(5):393-409. doi: 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R. Hum Mutat. 2000. PMID: 10790201 Review.

7

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. Blondeau F, et al. Among authors: laporte j. Hum Mol Genet. 2000 Sep 22;9(15):2223-9. doi: 10.1093/oxfordjournals.hmg.a018913. Hum Mol Genet. 2000. PMID: 11001925

8

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

Laporte J, Kress W, Mandel JL. Laporte J, et al. Ann Neurol. 2001 Jul;50(1):42-6. doi: 10.1002/ana.1033. Ann Neurol. 2001. PMID: 11456308

9

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

Tosch V, Rohde HM, Tronchère H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J. Tosch V, et al. Among authors: laporte j. Hum Mol Genet. 2006 Nov 1;15(21):3098-106. doi: 10.1093/hmg/ddl250. Epub 2006 Sep 28. Hum Mol Genet. 2006. PMID: 17008356

10

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.

Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A. Al-Qusairi L, et al. Among authors: laporte j. Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18763-8. doi: 10.1073/pnas.0900705106. Epub 2009 Oct 21. Proc Natl Acad Sci U S A. 2009. PMID: 19846786 Free PMC article.

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