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Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.
Lornage X, Mallaret M, Silva-Rojas R, Biancalana V, Giovannini D, Dieterich K, Saker S, Deleuze JF, Wuyam B, Laporte J, Böhm J. Lornage X, et al. Among authors: biancalana v. Neurogenetics. 2021 Mar;22(1):33-41. doi: 10.1007/s10048-020-00632-3. Epub 2021 Jan 6. Neurogenetics. 2021. PMID: 33405017
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.
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J. Böhm J, et al. Among authors: biancalana v. Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4. Hum Mutat. 2012. PMID: 22396310 Free PMC article.
Next generation sequencing for molecular diagnosis of neuromuscular diseases.
Vasli N, Böhm J, Le Gras S, Muller J, Pizot C, Jost B, Echaniz-Laguna A, Laugel V, Tranchant C, Bernard R, Plewniak F, Vicaire S, Levy N, Chelly J, Mandel JL, Biancalana V, Laporte J. Vasli N, et al. Among authors: biancalana v. Acta Neuropathol. 2012 Aug;124(2):273-83. doi: 10.1007/s00401-012-0982-8. Epub 2012 Apr 18. Acta Neuropathol. 2012. PMID: 22526018 Free PMC article.
Clinical utility gene card for: Centronuclear and myotubular myopathies.
Biancalana V, Beggs AH, Das S, Jungbluth H, Kress W, Nishino I, North K, Romero NB, Laporte J. Biancalana V, et al. Eur J Hum Genet. 2012 Oct;20(10). doi: 10.1038/ejhg.2012.91. Epub 2012 May 23. Eur J Hum Genet. 2012. PMID: 22617344 Free PMC article. No abstract available.
An integrated diagnosis strategy for congenital myopathies.
Böhm J, Vasli N, Malfatti E, Le Gras S, Feger C, Jost B, Monnier N, Brocard J, Karasoy H, Gérard M, Walter MC, Reilich P, Biancalana V, Kretz C, Messaddeq N, Marty I, Lunardi J, Romero NB, Laporte J. Böhm J, et al. Among authors: biancalana v. PLoS One. 2013 Jun 24;8(6):e67527. doi: 10.1371/journal.pone.0067527. Print 2013. PLoS One. 2013. PMID: 23826317 Free PMC article.
127 results