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Page 1
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: tranchant c. 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.
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.
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.
A novel variation in the Twinkle linker region causing late-onset dementia.
Echaniz-Laguna A, Chanson JB, Wilhelm JM, Sellal F, Mayençon M, Mohr M, Tranchant C, Mousson de Camaret B. Echaniz-Laguna A, et al. Among authors: tranchant c. Neurogenetics. 2010 Feb;11(1):21-5. doi: 10.1007/s10048-009-0202-4. Epub 2009 Jun 10. Neurogenetics. 2010. PMID: 19513767
Myopathies in the elderly: a hospital-based study.
Echaniz-Laguna A, Mohr M, Lannes B, Tranchant C. Echaniz-Laguna A, et al. Among authors: tranchant c. Neuromuscul Disord. 2010 Jul;20(7):443-7. doi: 10.1016/j.nmd.2010.05.003. Epub 2010 Jun 1. Neuromuscul Disord. 2010. PMID: 20621722
POLG1 variations presenting as multiple sclerosis.
Echaniz-Laguna A, Chassagne M, de Sèze J, Mohr M, Clerc-Renaud P, Tranchant C, Mousson de Camaret B. Echaniz-Laguna A, et al. Among authors: tranchant c. Arch Neurol. 2010 Sep;67(9):1140-3. doi: 10.1001/archneurol.2010.219. Arch Neurol. 2010. PMID: 20837861
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.
Salort-Campana E, Nguyen K, Bernard R, Jouve E, Solé G, Nadaj-Pakleza A, Niederhauser J, Charles E, Ollagnon E, Bouhour F, Sacconi S, Echaniz-Laguna A, Desnuelle C, Tranchant C, Vial C, Magdinier F, Bartoli M, Arne-Bes MC, Ferrer X, Kuntzer T, Levy N, Pouget J, Attarian S. Salort-Campana E, et al. Among authors: tranchant c. Orphanet J Rare Dis. 2015 Jan 21;10:2. doi: 10.1186/s13023-014-0218-1. Orphanet J Rare Dis. 2015. PMID: 25603992 Free PMC article.
427 results