Laporte J - Search Results

1

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

Biancalana V, Rendu J, Chaussenot A, Mecili H, Bieth E, Fradin M, Mercier S, Michaud M, Nougues MC, Pasquier L, Sacconi S, Romero NB, Marcorelles P, Authier FJ, Gelot Bernabe A, Uro-Coste E, Cances C, Isidor B, Magot A, Minot-Myhie MC, Péréon Y, Perrier-Boeswillwald J, Bretaudeau G, Dondaine N, Bouzenard A, Pizzimenti M, Eymard B, Ferreiro A, Laporte J, Fauré J, Böhm J. Biancalana V, et al. Among authors: laporte j. Acta Neuropathol Commun. 2021 Sep 17;9(1):155. doi: 10.1186/s40478-021-01254-y. Acta Neuropathol Commun. 2021. PMID: 34535181 Free PMC article.

2

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

3

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.

4

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.

5

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

6

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

7

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

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

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.

10

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. Tosch V, et al. Among authors: laporte j. Neuromuscul Disord. 2010 Jun;20(6):375-81. doi: 10.1016/j.nmd.2010.03.015. Neuromuscul Disord. 2010. PMID: 20434914

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