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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HMJ, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST. Palmer EE, et al. Among authors: bristol re. Am J Hum Genet. 2019 Mar 7;104(3):542-552. doi: 10.1016/j.ajhg.2019.01.013. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827498 Free PMC article.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Jalal Ahmed HM, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST. Palmer EE, et al. Among authors: bristol re. Am J Hum Genet. 2019 Apr 4;104(4):778. doi: 10.1016/j.ajhg.2019.03.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929740 Free PMC article. No abstract available.
Current Trends in Craniosynostosis.
Bristol RE. Bristol RE. World Neurosurg. 2016 Apr;88:684-685. doi: 10.1016/j.wneu.2016.02.100. Epub 2016 Mar 2. World Neurosurg. 2016. PMID: 26944886 No abstract available.
Management of cranial base chondrosarcomas.
Wanebo JE, Bristol RE, Porter RR, Coons SW, Spetzler RF. Wanebo JE, et al. Among authors: bristol re. Neurosurgery. 2006 Feb;58(2):249-55; discussion 249-55. doi: 10.1227/01.NEU.0000194834.74873.FB. Neurosurgery. 2006. PMID: 16462478
The role of neurosurgery in status epilepticus.
Ng YT, Bristol RE, Schrader DV, Smith KA. Ng YT, et al. Among authors: bristol re. Neurocrit Care. 2007;7(1):86-91. doi: 10.1007/s12028-007-0038-4. Neurocrit Care. 2007. PMID: 17657660
45 results