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19 results
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Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.
Spacey SD, Hildebrand ME, Materek LA, Bird TD, Snutch TP. Spacey SD, et al. Ann Neurol. 2004 Aug;56(2):213-20. doi: 10.1002/ana.20169. Ann Neurol. 2004. PMID: 15293273
Ca(V)2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations: implications for calcium channelopathies.
Adams PJ, Garcia E, David LS, Mulatz KJ, Spacey SD, Snutch TP. Adams PJ, et al. Among authors: spacey sd. Channels (Austin). 2009 Mar-Apr;3(2):110-21. doi: 10.4161/chan.3.2.7932. Epub 2009 Mar 23. Channels (Austin). 2009. PMID: 19242091
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH, Spacey SD, Valente EM, Silveira-Moriyama L, Teive HA, Raskin S, Sander JW, Lees A, Warner T, Kullmann DM, Wood NW, Hanna M, Houlden H. Gardiner AR, et al. Among authors: spacey sd. Neurology. 2012 Nov 20;79(21):2115-21. doi: 10.1212/WNL.0b013e3182752c5a. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077024 Free PMC article.
Familial hemiplegic migraine presenting as recurrent encephalopathy in a Native Indian family.
Spacey SD, Vanmolkot KR, Murphy C, van den Maagdenberg AM, Hsiung RG. Spacey SD, et al. Headache. 2005 Oct;45(9):1244-9. doi: 10.1111/j.1526-4610.2005.00249.x. Headache. 2005. PMID: 16178956
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
Spacey SD, Materek LA, Szczygielski BI, Bird TD. Spacey SD, et al. Arch Neurol. 2005 Feb;62(2):314-6. doi: 10.1001/archneur.62.2.314. Arch Neurol. 2005. PMID: 15710862
Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene.
Spacey SD, Szczygielski BI, Young SP, Hukin J, Selby K, Snutch TP. Spacey SD, et al. Can J Neurol Sci. 2004 Aug;31(3):383-6. doi: 10.1017/s0317167100003498. Can J Neurol Sci. 2004. PMID: 15376485
Pseudomigraine with lymphocytic pleocytosis: a calcium channelopathy? Clinical description of 10 cases and genetic analysis of the familial hemiplegic migraine gene CACNA1A.
Chapman KM, Szczygielski BI, Toth C, Woolfenden A, Robinson G, Snutch TP, Spacey SD. Chapman KM, et al. Among authors: spacey sd. Headache. 2003 Sep;43(8):892-5. doi: 10.1046/j.1526-4610.2003.03168.x. Headache. 2003. PMID: 12940811
Fatal familial insomnia: the first account in a family of Chinese descent.
Spacey SD, Pastore M, McGillivray B, Fleming J, Gambetti P, Feldman H. Spacey SD, et al. Arch Neurol. 2004 Jan;61(1):122-5. doi: 10.1001/archneur.61.1.122. Arch Neurol. 2004. PMID: 14732629
Unilateral pallidal deep brain stimulation in a patient with dystonia secondary to episodic ataxia type 2.
Harries AM, Sandhu M, Spacey SD, Aly MM, Honey CR. Harries AM, et al. Among authors: spacey sd. Stereotact Funct Neurosurg. 2013;91(4):233-5. doi: 10.1159/000345265. Epub 2013 Mar 26. Stereotact Funct Neurosurg. 2013. PMID: 23548943
A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.
Valente EM, Spacey SD, Wali GM, Bhatia KP, Dixon PH, Wood NW, Davis MB. Valente EM, et al. Among authors: spacey sd. Brain. 2000 Oct;123 ( Pt 10):2040-5. doi: 10.1093/brain/123.10.2040. Brain. 2000. PMID: 11004121
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