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Items: 1 to 50 of 156

1.

Longitudinal gait and balance decline in Friedreich's Ataxia: A pilot study.

Zesiewicz TA, Stephenson JB, Kim SH, Sullivan KL, Jahan I, Huang Y, Salemi JL, Wecker L, Shaw JD, Gooch CL.

Gait Posture. 2017 Jun;55:25-30. doi: 10.1016/j.gaitpost.2017.03.019. Epub 2017 Mar 30.

PMID:
28411441
2.

Analysis of Valproic Acid, Salicylic Acid and Ibuprofen in Whole Blood by GC-MS.

Stephenson JB, Flater ML, Bain LT.

J Anal Toxicol. 2016 Oct;40(8):649-652. Epub 2016 Aug 25.

PMID:
27562965
3.

In Memoriam: Professor Jean Aicardi (1926-2015).

Stephenson JB.

Pediatr Neurol. 2016 Jan;54:3-4. doi: 10.1016/j.pediatrneurol.2015.09.006. Epub 2015 Sep 16. No abstract available.

PMID:
26706478
4.

When patients with epilepsy or "epilepsy" might need a pacemaker.

Stephenson JB.

Epileptic Disord. 2015 Sep;17(3):209-10. doi: 10.1684/epd.2015.0769. No abstract available.

5.

Syncope and electroencephalography.

Stephenson JB.

Brain. 2014 Jul;137(Pt 7):e284. doi: 10.1093/brain/awu086. Epub 2014 Apr 14. No abstract available.

PMID:
24732298
6.

End of life care--the buck stops here with doctors.

Stephenson JB.

BMJ. 2013 Nov 12;347:f6608. doi: 10.1136/bmj.f6608. No abstract available.

PMID:
24222634
7.

Analysis of buprenorphine in whole blood using liquid chromatography-tandem mass spectrometry.

Stephenson JB.

J Anal Toxicol. 2013 Oct;37(8):495-9. doi: 10.1093/jat/bkt074. Epub 2013 Aug 27.

PMID:
23983012
8.

Cortical plasticity induced by different degrees of peripheral nerve injuries: a rat functional magnetic resonance imaging study under 9.4 Tesla.

Li R, Hettinger PC, Machol JA, Liu X, Stephenson JB, Pawela CP, Yan JG, Matloub HS, Hyde JS.

J Brachial Plex Peripher Nerve Inj. 2013 May 9;8(1):4. doi: 10.1186/1749-7221-8-4.

9.

Syncopes and other paroxysmal events.

Stephenson JB.

Handb Clin Neurol. 2013;112:861-6. doi: 10.1016/B978-0-444-52910-7.00007-6. Review.

PMID:
23622295
10.

Transhemispheric cortical plasticity following contralateral C7 nerve transfer: a rat functional magnetic resonance imaging survival study.

Stephenson JB 4th, Li R, Yan JG, Hyde J, Matloub H.

J Hand Surg Am. 2013 Mar;38(3):478-87. doi: 10.1016/j.jhsa.2012.12.018.

11.

Phenazepam and its effects on driving.

Stephenson JB, Golz DE, Brasher MJ.

J Anal Toxicol. 2013 Jan-Feb;37(1):25-9. doi: 10.1093/jat/bks080. Epub 2012 Oct 16. Review.

PMID:
23074215
12.

Paroxysmal non-epileptic motor events in childhood.

Stephenson JB.

Dev Med Child Neurol. 2012 Apr;54(4):299-300. doi: 10.1111/j.1469-8749.2012.04245.x. Epub 2012 Feb 21. No abstract available.

13.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ.

Nat Genet. 2012 Jan 22;44(3):338-42. doi: 10.1038/ng.1084.

PMID:
22267198
14.

Stuart Green's Vignettes 17 and 18.

Deonna T, Stephenson JB.

Eur J Paediatr Neurol. 2009 Jul;13(4):297-8. No abstract available.

PMID:
19496241
15.

Stuart Green's Vignettes 15 and 16.

Stephenson JB, Deonna T.

Eur J Paediatr Neurol. 2009 May;13(3):201-2. No abstract available.

PMID:
19382303
16.

A UK hospice's position on assisted dying.

Stephenson JB.

Palliat Med. 2009 Jun;23(4):374-5. doi: 10.1177/0269216309104059. Epub 2009 Mar 26. No abstract available.

PMID:
19324924
17.

Stuart Green's vignettes 9 and 10.

Deonna T, Stephenson JB.

Eur J Paediatr Neurol. 2008 Nov;12(6):437. No abstract available.

PMID:
19062364
18.

Distraction rate and latency: factors in the outcome of paediatric maxillary distraction.

Higuera S, Cole P, Stephenson JB, Hollier L.

J Plast Reconstr Aesthet Surg. 2009 Dec;62(12):1564-7. doi: 10.1016/j.bjps.2008.06.045. Epub 2008 Nov 6.

PMID:
18993125
19.

Stuart Green's vignettes 7 and 8.

Deonna T, Stephenson JB.

Eur J Paediatr Neurol. 2008 Sep;12(5):353-4. No abstract available.

PMID:
18833643
20.

Stuart Green's vignettes 5 and 6.

Deonna T, Stephenson JB.

Eur J Paediatr Neurol. 2008 Jul;12(4):271-2. No abstract available.

PMID:
18705020
21.

Stuart Green's vignettes 3 and 4.

Deonna T, Stephenson JB.

Eur J Paediatr Neurol. 2008 May;12(3):153-4. No abstract available.

PMID:
18584782
22.

Bath-induced paroxysmal disorders in infancy.

Nechay A, Stephenson JB.

Eur J Paediatr Neurol. 2009 May;13(3):203-8. doi: 10.1016/j.ejpn.2008.04.004. Epub 2008 Jun 20. Review.

PMID:
18571948
23.

Ocular compression a century on: time for a thumbs-off approach?

Stephenson JB.

Epileptic Disord. 2008 Jun;10(2):151-5. doi: 10.1684/epd.2008.0197. No abstract available.

24.

Aicardi-Goutières syndrome (AGS).

Stephenson JB.

Eur J Paediatr Neurol. 2008 Sep;12(5):355-8. doi: 10.1016/j.ejpn.2007.11.010. Epub 2008 Mar 14. Review.

PMID:
18343173
25.

Mind-stretching faints.

Thijs RD, Gert van Dijk J, Stephenson JB, Wieling W.

Epileptic Disord. 2007 Dec;9(4):418-23. No abstract available.

26.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ.

Am J Med Genet A. 2008 Jan 15;146A(2):182-90.

PMID:
18076099
27.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ.

Am J Hum Genet. 2007 Oct;81(4):713-25. Epub 2007 Sep 4.

28.

Cerebral palsy after maternal trauma in pregnancy.

Hayes B, Ryan S, Stephenson JB, King MD.

Dev Med Child Neurol. 2007 Sep;49(9):700-6.

29.

Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).

Fertleman CR, Ferrie CD, Aicardi J, Bednarek NA, Eeg-Olofsson O, Elmslie FV, Griesemer DA, Goutières F, Kirkpatrick M, Malmros IN, Pollitzer M, Rossiter M, Roulet-Perez E, Schubert R, Smith VV, Testard H, Wong V, Stephenson JB.

Neurology. 2007 Aug 7;69(6):586-95.

PMID:
17679678
31.

Childhood convulsive status epilepticus.

Stephenson JB.

Lancet. 2006 Oct 14;368(9544):1327-8; author reply 1328. No abstract available.

PMID:
17046462
32.

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.

Nat Genet. 2006 Aug;38(8):910-6. Epub 2006 Jul 16.

PMID:
16845400
33.

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.

Nat Genet. 2006 Jul;38(7):801-6. Epub 2006 Jun 4.

34.

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

Horrocks IA, Nechay A, Stephenson JB, Zuberi SM.

Arch Dis Child. 2005 Dec;90(12):1283-7. Epub 2005 Sep 13.

35.

Autonomic seizures in 18q- syndrome.

Stephenson JB.

Brain Dev. 2005 Mar;27(2):125-6.

PMID:
15668052
36.

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.

Brain Dev. 2005 Mar;27(2):118-24.

PMID:
15668051
37.

The movement disorders of Coffin-Lowry syndrome.

Stephenson JB, Hoffman MC, Russell AJ, Falconer J, Beach RC, Tolmie JL, McWilliam RC, Zuberi SM.

Brain Dev. 2005 Mar;27(2):108-13.

PMID:
15668049
38.

Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.

Crow YJ, McMenamin J, Haenggeli CA, Hadley DM, Tirupathi S, Treacy EP, Zuberi SM, Browne BH, Tolmie JL, Stephenson JB.

Neuropediatrics. 2004 Feb;35(1):10-9.

PMID:
15002047
39.

Gratification disorder ("infantile masturbation"): a review.

Nechay A, Ross LM, Stephenson JB, O'Regan M.

Arch Dis Child. 2004 Mar;89(3):225-6.

40.

Ictal bradycardia: elusive references, elusive danger.

Stephenson JB.

Eur J Paediatr Neurol. 2003;7(6):425-6; author reply 426. No abstract available.

PMID:
14623226
41.

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.

Epilepsia. 2003 Apr;44(4):613-7.

42.

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.

Crow YJ, Black DN, Ali M, Bond J, Jackson AP, Lefson M, Michaud J, Roberts E, Stephenson JB, Woods CG, Lebon P.

J Med Genet. 2003 Mar;40(3):183-7.

43.

Shaken baby syndrome.

Stephenson JB.

J R Soc Med. 2003 Feb;96(2):102-3; author reply 103. No abstract available.

44.

Phosphine poisoning by proxy.

Stephenson JB.

Lancet. 2002 Sep 28;360(9338):1024. No abstract available.

PMID:
12383695
45.

Aicardi-Goutières syndrome--observations of the Glasgow school.

Stephenson JB.

Eur J Paediatr Neurol. 2002;6 Suppl A:A67-70; discussion A37-9, A55-8, A65-6. No abstract available.

PMID:
12365363
46.

Cataplexy in the Prader-Willi syndrome.

Tobias ES, Tolmie JL, Stephenson JB.

Arch Dis Child. 2002 Aug;87(2):170. No abstract available.

47.

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.

Hum Genet. 2001 Sep;109(3):267-70.

PMID:
11702206
48.

Anoxic seizures: self-terminating syncopes.

Stephenson JB.

Epileptic Disord. 2001 Jan-Mar;3(1):3-6.

49.

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.

Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, Avoni P, McWilliam RC, Stephenson JB, Hanna MG, Kullmann DM, Spauschus A.

Ann Neurol. 2000 Oct;48(4):647-56.

PMID:
11026449
50.

'Grand mal' in hypotension.

Stephenson JB.

J R Soc Med. 2000 May;93(5):276. No abstract available.

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