Laporte J - Search Results

1

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

Koutsopoulos OS, Koch C, Tosch V, Böhm J, North KN, Laporte J. Koutsopoulos OS, et al. Among authors: laporte j. PLoS One. 2011;6(11):e27498. doi: 10.1371/journal.pone.0027498. Epub 2011 Nov 11. PLoS One. 2011. PMID: 22096584 Free PMC article.

2

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Bitoun M, et al. Among authors: laporte j. Nat Genet. 2005 Nov;37(11):1207-9. doi: 10.1038/ng1657. Epub 2005 Oct 16. Nat Genet. 2005. PMID: 16227997 Free article.

3

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

4

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A, Mandel JL, Laporte J. Nicot AS, et al. Among authors: laporte j. Nat Genet. 2007 Sep;39(9):1134-9. doi: 10.1038/ng2086. Epub 2007 Aug 5. Nat Genet. 2007. PMID: 17676042

5

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

Echaniz-Laguna A, Nicot AS, Carré S, Franques J, Tranchant C, Dondaine N, Biancalana V, Mandel JL, Laporte J. Echaniz-Laguna A, et al. Among authors: laporte j. Neuromuscul Disord. 2007 Dec;17(11-12):955-9. doi: 10.1016/j.nmd.2007.06.467. Epub 2007 Sep 6. Neuromuscul Disord. 2007. PMID: 17825552

6

Endosomal phosphoinositides and human diseases.

Nicot AS, Laporte J. Nicot AS, et al. Among authors: laporte j. Traffic. 2008 Aug;9(8):1240-9. doi: 10.1111/j.1600-0854.2008.00754.x. Epub 2008 Apr 21. Traffic. 2008. PMID: 18429927 Free PMC article. Review.

7

Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy.

Vergne I, Roberts E, Elmaoued RA, Tosch V, Delgado MA, Proikas-Cezanne T, Laporte J, Deretic V. Vergne I, et al. Among authors: laporte j. EMBO J. 2009 Aug 5;28(15):2244-58. doi: 10.1038/emboj.2009.159. Epub 2009 Jul 9. EMBO J. 2009. PMID: 19590496 Free PMC article.

8

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.

Melberg A, Kretz C, Kalimo H, Wallgren-Pettersson C, Toussaint A, Böhm J, Stålberg E, Laporte J. Melberg A, et al. Among authors: laporte j. Neuromuscul Disord. 2010 Jan;20(1):53-6. doi: 10.1016/j.nmd.2009.10.006. Epub 2009 Nov 22. Neuromuscul Disord. 2010. PMID: 19932619

9

From dynamic live cell imaging to 3D ultrastructure: novel integrated methods for high pressure freezing and correlative light-electron microscopy.

Spiegelhalter C, Tosch V, Hentsch D, Koch M, Kessler P, Schwab Y, Laporte J. Spiegelhalter C, et al. Among authors: laporte j. PLoS One. 2010 Feb 3;5(2):e9014. doi: 10.1371/journal.pone.0009014. PLoS One. 2010. PMID: 20140253 Free PMC article.

10

Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.

Claeys KG, Maisonobe T, Böhm J, Laporte J, Hezode M, Romero NB, Brochier G, Bitoun M, Carlier RY, Stojkovic T. Claeys KG, et al. Among authors: laporte j. Neurology. 2010 Feb 9;74(6):519-21. doi: 10.1212/WNL.0b013e3181cef7f9. Neurology. 2010. PMID: 20142620 No abstract available.

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