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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: plewniak f. 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.
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M. Lagier-Tourenne C, et al. Among authors: plewniak f. Am J Hum Genet. 2008 Mar;82(3):661-72. doi: 10.1016/j.ajhg.2007.12.024. Am J Hum Genet. 2008. PMID: 18319074 Free PMC article.
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H. Stoetzel C, et al. Among authors: plewniak f. Am J Hum Genet. 2007 Jan;80(1):1-11. doi: 10.1086/510256. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160889 Free PMC article.
PipeAlign: A new toolkit for protein family analysis.
Plewniak F, Bianchetti L, Brelivet Y, Carles A, Chalmel F, Lecompte O, Mochel T, Moulinier L, Muller A, Muller J, Prigent V, Ripp R, Thierry JC, Thompson JD, Wicker N, Poch O. Plewniak F, et al. Nucleic Acids Res. 2003 Jul 1;31(13):3829-32. doi: 10.1093/nar/gkg518. Nucleic Acids Res. 2003. PMID: 12824430 Free PMC article.
Database similarity searches.
Plewniak F. Plewniak F. Methods Mol Biol. 2008;484:361-78. doi: 10.1007/978-1-59745-398-1_24. Methods Mol Biol. 2008. PMID: 18592192
38 results