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Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
Chen DH, Naydenov A, Blankman JL, Mefford HC, Davis M, Sul Y, Barloon AS, Bonkowski E, Wolff J, Matsushita M, Smith C, Cravatt BF, Mackie K, Raskind WH, Stella N, Bird TD. Chen DH, et al. Among authors: bird td. Hum Mutat. 2013 Dec;34(12):1672-8. doi: 10.1002/humu.22437. Epub 2013 Oct 2. Hum Mutat. 2013. PMID: 24027063 Free PMC article.
Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.
Kluenemann HH, Nutt JG, Davis MY, Bird TD. Kluenemann HH, et al. Among authors: bird td. J Neurol Sci. 2013 Dec 15;335(1-2):219-20. doi: 10.1016/j.jns.2013.08.033. Epub 2013 Sep 3. J Neurol Sci. 2013. PMID: 24035292 Free PMC article.
Congenital insensitivity to pain with anhidrosis.
Bird TD, Swanson PD. Bird TD, et al. Ann Neurol. 2015 Sep;78(3):500. doi: 10.1002/ana.24450. Epub 2015 Jul 17. Ann Neurol. 2015. PMID: 26032179 Free article. No abstract available.
414 results