Laporte J - Search Results

1

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.

Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD. Beggs AH, et al. Among authors: laporte j. Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14697-702. doi: 10.1073/pnas.1003677107. Epub 2010 Aug 3. Proc Natl Acad Sci U S A. 2010. PMID: 20682747 Free PMC article.

2

Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.

Tanner SM, Laporte J, Guiraud-Chaumeil C, Liechti-Gallati S. Tanner SM, et al. Among authors: laporte j. Hum Mutat. 1998;11(1):62-8. doi: 10.1002/(SICI)1098-1004(1998)11:1<62::AID-HUMU10>3.0.CO;2-X. Hum Mutat. 1998. PMID: 9450905

3

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. Laporte J, et al. Hum Mol Genet. 1998 Oct;7(11):1703-12. doi: 10.1093/hmg/7.11.1703. Hum Mol Genet. 1998. PMID: 9736772

4

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

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. 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.

6

The myotubularin family: from genetic disease to phosphoinositide metabolism.

Laporte J, Blondeau F, Buj-Bello A, Mandel JL. Laporte J, et al. Trends Genet. 2001 Apr;17(4):221-8. doi: 10.1016/s0168-9525(01)02245-4. Trends Genet. 2001. PMID: 11275328

7

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.

Buj-Bello A, Furling D, Tronchère H, Laporte J, Lerouge T, Butler-Browne GS, Mandel JL. Buj-Bello A, et al. Among authors: laporte j. Hum Mol Genet. 2002 Sep 15;11(19):2297-307. doi: 10.1093/hmg/11.19.2297. Hum Mol Genet. 2002. PMID: 12217958

8

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. Buj-Bello A, et al. Among authors: laporte j. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15060-5. doi: 10.1073/pnas.212498399. Epub 2002 Oct 21. Proc Natl Acad Sci U S A. 2002. PMID: 12391329 Free PMC article.

9

Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.

Nandurkar HH, Layton M, Laporte J, Selan C, Corcoran L, Caldwell KK, Mochizuki Y, Majerus PW, Mitchell CA. Nandurkar HH, et al. Among authors: laporte j. Proc Natl Acad Sci U S A. 2003 Jul 22;100(15):8660-5. doi: 10.1073/pnas.1033097100. Epub 2003 Jul 7. Proc Natl Acad Sci U S A. 2003. PMID: 12847286 Free PMC article.

10

Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.

Zanoteli E, Laporte J, Rocha JC, Kretz C, Oliveira AS, Mandel JL, Perez AB, Gabbai AA, Buj-Bello A. Zanoteli E, et al. Among authors: laporte j. Am J Med Genet A. 2005 Apr 30;134(3):338-40. doi: 10.1002/ajmg.a.30574. Am J Med Genet A. 2005. PMID: 15690409 No abstract available.

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