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Muscle phosphorylase b kinase deficiency revisited.
Echaniz-Laguna A, Akman HO, Mohr M, Tranchant C, Talmant-Verbist V, Rolland MO, Dimauro S. Echaniz-Laguna A, et al. Among authors: tranchant c. Neuromuscul Disord. 2010 Feb;20(2):125-7. doi: 10.1016/j.nmd.2009.11.004. Epub 2010 Jan 18. Neuromuscul Disord. 2010. PMID: 20080404
A carpenter with dementia.
Degos B, Echaniz-Laguna A, Tranchant C. Degos B, et al. Among authors: tranchant c. Lancet. 2003 Nov 15;362(9396):1647. doi: 10.1016/S0140-6736(03)14799-X. Lancet. 2003. PMID: 14630447 No abstract available.
Muscle Nogo-A expression is a prognostic marker in lower motor neuron syndromes.
Pradat PF, Bruneteau G, Gonzalez de Aguilar JL, Dupuis L, Jokic N, Salachas F, Le Forestier N, Echaniz-Laguna A, Dubourg O, Hauw JJ, Tranchant C, Loeffler JP, Meininger V. Pradat PF, et al. Among authors: tranchant c. Ann Neurol. 2007 Jul;62(1):15-20. doi: 10.1002/ana.21122. Ann Neurol. 2007. PMID: 17455292
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: tranchant c. 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.
427 results