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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: mousson de camaret b. Neurogenetics. 2010 Feb;11(1):21-5. doi: 10.1007/s10048-009-0202-4. Epub 2009 Jun 10. Neurogenetics. 2010. PMID: 19513767
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: mousson de camaret b, de seze j. Arch Neurol. 2010 Sep;67(9):1140-3. doi: 10.1001/archneurol.2010.219. Arch Neurol. 2010. PMID: 20837861
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.
Echaniz-Laguna A, Chassagne M, Ceresuela J, Rouvet I, Padet S, Acquaviva C, Nataf S, Vinzio S, Bozon D, Mousson de Camaret B. Echaniz-Laguna A, et al. Among authors: mousson de camaret b. J Med Genet. 2012 Feb;49(2):146-50. doi: 10.1136/jmedgenet-2011-100504. Epub 2011 Dec 20. J Med Genet. 2012. PMID: 22187496
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.
Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayençon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B. Echaniz-Laguna A, et al. Among authors: mousson de camaret b. Neurology. 2013 Oct 22;81(17):1523-30. doi: 10.1212/WNL.0b013e3182a4a518. Epub 2013 Sep 11. Neurology. 2013. PMID: 24027061 Free PMC article.
Mitochondrial myopathy caused by arsenic trioxide therapy.
Echaniz-Laguna A, Benoilid A, Vinzio S, Fornecker LM, Lannes B, Goullé JP, Broly F, Mousson de Camaret B. Echaniz-Laguna A, et al. Among authors: mousson de camaret b. Blood. 2012 May 3;119(18):4272-4. doi: 10.1182/blood-2011-10-385138. Epub 2012 Mar 16. Blood. 2012. PMID: 22427206 Free article.
Full-length PGC-1α salvages the phenotype of a mouse model of human neuropathy through mitochondrial proliferation.
Rona-Voros K, Eschbach J, Vernay A, Wiesner D, Schwalenstocker B, Geniquet P, Mousson De Camaret B, Echaniz-Laguna A, Loeffler JP, Ludolph AC, Weydt P, Dupuis L. Rona-Voros K, et al. Among authors: mousson de camaret b. Hum Mol Genet. 2013 Dec 20;22(25):5096-106. doi: 10.1093/hmg/ddt359. Epub 2013 Jul 29. Hum Mol Genet. 2013. PMID: 23900073
28 results