Biancalana V - Search Results

1

Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype.

Vasli N, Laugel V, Böhm J, Lannes B, Biancalana V, Laporte J. Vasli N, et al. Among authors: biancalana v. Eur J Hum Genet. 2012 Jun;20(6):701-4. doi: 10.1038/ejhg.2011.256. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258523 Free PMC article.

2

Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.

Dahl N, Laporte J, Hu L, Biancalana V, Le Palier D, Cohen D, Piussan C, Mandel JL. Dahl N, et al. Among authors: biancalana v. Am J Hum Genet. 1995 Apr;56(4):999-1002. Am J Hum Genet. 1995. PMID: 7717411 Free PMC article. No abstract available.

3

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: biancalana v. 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

4

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. Among authors: biancalana v. 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.

5

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL. Biancalana V, et al. Hum Genet. 2003 Feb;112(2):135-42. doi: 10.1007/s00439-002-0869-1. Epub 2002 Nov 28. Hum Genet. 2003. PMID: 12522554

6

118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).

Bertini E, Biancalana V, Bolino A, Buj Bello A, Clague M, Guicheney P, Jungbluth H, Kress W, Musaro' A, Nandurkar H, Pirola L, Romero N, Senderek J, Suter U, Sewry C, Tronchere H, Wallgren-Pettersson C, Wishart MJ, Laporte J. Bertini E, et al. Among authors: biancalana v. Neuromuscul Disord. 2004 Jun;14(6):387-96. doi: 10.1016/j.nmd.2004.04.002. Neuromuscul Disord. 2004. PMID: 15145343 No abstract available.

7

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: biancalana v. Nat Genet. 2007 Sep;39(9):1134-9. doi: 10.1038/ng2086. Epub 2007 Aug 5. Nat Genet. 2007. PMID: 17676042

8

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: biancalana v. 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

9

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.

Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, Claeys KG, Lacène E, Brochier G, Manéré L, Laforêt P, Eymard B, Guicheney P, Fardeau M, Romero NB. Bevilacqua JA, et al. Among authors: biancalana v. Acta Neuropathol. 2009 Mar;117(3):283-91. doi: 10.1007/s00401-008-0472-1. Epub 2008 Dec 16. Acta Neuropathol. 2009. PMID: 19084976

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: biancalana v. 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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