Stephenson JB - Search Results

1

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.

Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ. Rees MI, et al. Among authors: stephenson jb. Nat Genet. 2006 Jul;38(7):801-6. doi: 10.1038/ng1814. Epub 2006 Jun 4. Nat Genet. 2006. PMID: 16751771 Free PMC article.

2

Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia.

Rees MI, Lewis TM, Vafa B, Ferrie C, Corry P, Muntoni F, Jungbluth H, Stephenson JB, Kerr M, Snell RG, Schofield PR, Owen MJ. Rees MI, et al. Among authors: stephenson jb. Hum Genet. 2001 Sep;109(3):267-70. doi: 10.1007/s004390100569. Hum Genet. 2001. PMID: 11702206

3

The movement disorders of Coffin-Lowry syndrome.

Stephenson JB, Hoffman MC, Russell AJ, Falconer J, Beach RC, Tolmie JL, McWilliam RC, Zuberi SM. Stephenson JB, et al. Brain Dev. 2005 Mar;27(2):108-13. doi: 10.1016/j.braindev.2003.11.010. Brain Dev. 2005. PMID: 15668049

4

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

Crow YJ, Zuberi SM, McWilliam R, Tolmie JL, Hollman A, Pohl K, Stephenson JB. Crow YJ, et al. Among authors: stephenson jb. J Med Genet. 1998 Feb;35(2):94-8. doi: 10.1136/jmg.35.2.94. J Med Genet. 1998. PMID: 9507386 Free PMC article.

5

Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism.

Macleod S, Mallik A, Tolmie JL, Stephenson JB, O'Regan ME, Zuberi SM. Macleod S, et al. Among authors: stephenson jb. Brain Dev. 2005 Mar;27(2):118-24. doi: 10.1016/j.braindev.2003.10.006. Brain Dev. 2005. PMID: 15668051

6

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, Cau D, Déry C, Fazzi E, Goizet C, King MD, Klepper J, Lacombe D, Lanzi G, Lyall H, Martínez-Frías ML, Mathieu M, McKeown C, Monier A, Oade Y, Quarrell OW, Rittey CD, Rogers RC, Sanchis A, Stephenson JB, Tacke U, Till M, Tolmie JL, Tomlin P, Voit T, Weschke B, Woods CG, Lebon P, Bonthron DT, Ponting CP, Jackson AP. Crow YJ, et al. Among authors: stephenson jb. Nat Genet. 2006 Aug;38(8):910-6. doi: 10.1038/ng1842. Epub 2006 Jul 16. Nat Genet. 2006. PMID: 16845400

7

Anoxic-epileptic seizures: observational study of epileptic seizures induced by syncopes.

Horrocks IA, Nechay A, Stephenson JB, Zuberi SM. Horrocks IA, et al. Among authors: stephenson jb. Arch Dis Child. 2005 Dec;90(12):1283-7. doi: 10.1136/adc.2005.075408. Epub 2005 Sep 13. Arch Dis Child. 2005. PMID: 16159903 Free PMC article.

8

Hyperammonaemic encephalopathy after a subureteric injection for vesicoureteric reflux.

Zuberi SM, Stephenson JB, Azmy AF, Robinson PH, McWilliam RC. Zuberi SM, et al. Among authors: stephenson jb. Arch Dis Child. 1998 Oct;79(4):363-4. doi: 10.1136/adc.79.4.363. Arch Dis Child. 1998. PMID: 9875052 Free PMC article.

9

Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.

McLellan A, Phillips HA, Rittey C, Kirkpatrick M, Mulley JC, Goudie D, Stephenson JB, Tolmie J, Scheffer IE, Berkovic SF, Zuberi SM. McLellan A, et al. Among authors: stephenson jb. Epilepsia. 2003 Apr;44(4):613-7. doi: 10.1046/j.1528-1157.2003.20102.x. Epilepsia. 2003. PMID: 12681012 Free article.

10

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.

Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam RC, Stephenson JB, Kullmann DM, Hanna MG. Zuberi SM, et al. Among authors: stephenson jb. Brain. 1999 May;122 ( Pt 5):817-25. doi: 10.1093/brain/122.5.817. Brain. 1999. PMID: 10355668

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