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CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK. Strauss KA, et al. Among authors: morlet t. Am J Hum Genet. 2015 Jan 8;96(1):121-35. doi: 10.1016/j.ajhg.2014.12.003. Am J Hum Genet. 2015. PMID: 25574826 Free PMC article.
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Bowser LE, Young M, Wenger OK, Ammous Z, Brigatti KW, Carson VJ, Moser T, Deline J, Aoki K, Morlet T, Scott EM, Puffenberger EG, Robinson DL, Hendrickson C, Salvin J, Gottlieb S, Heaps AD, Tiemeyer M, Strauss KA. Bowser LE, et al. Among authors: morlet t. Mol Genet Metab. 2019 Apr;126(4):475-488. doi: 10.1016/j.ymgme.2019.01.013. Epub 2019 Jan 21. Mol Genet Metab. 2019. PMID: 30691927
Activity of daily living for Morquio A syndrome.
Yasuda E, Suzuki Y, Shimada T, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Xie L, Miller F, Rahman T, Kecskemethy HH, Nagao K, Morlet T, Shaffer TH, Chinen Y, Yabe H, Tanaka A, Shintaku H, Orii KE, Orii KO, Mason RW, Montaño AM, Fukao T, Orii T, Tomatsu S. Yasuda E, et al. Among authors: morlet t. Mol Genet Metab. 2016 Jun;118(2):111-22. doi: 10.1016/j.ymgme.2016.04.005. Epub 2016 Apr 25. Mol Genet Metab. 2016. PMID: 27161890 Free PMC article.
Auditory function in Pelizaeus-Merzbacher disease.
Morlet T, Nagao K, Bean SC, Mora SE, Hopkins SE, Hobson GM. Morlet T, et al. J Neurol. 2018 Jul;265(7):1580-1589. doi: 10.1007/s00415-018-8884-x. Epub 2018 May 3. J Neurol. 2018. PMID: 29725841
64 results