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Items: 1 to 50 of 78

1.

Analysis of rare copy number variation in absence epilepsies.

Addis L, Rosch RE, Valentin A, Makoff A, Robinson R, Everett KV, Nashef L, Pal DK.

Neurol Genet. 2016 Mar 22;2(2):e56. doi: 10.1212/NXG.0000000000000056. eCollection 2016 Apr.

2.

Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating.

Flomen RH, Shaikh M, Walshe M, Schulze K, Hall MH, Picchioni M, Rijsdijk F, Toulopoulou T, Kravariti E, Murray RM, Asherson P, Makoff AJ, Bramon E.

Eur J Hum Genet. 2013 Jan;21(1):76-81. doi: 10.1038/ejhg.2012.81. Epub 2012 May 16.

3.

Increased RNA editing in EAAT2 pre-mRNA from amyotrophic lateral sclerosis patients: involvement of a cryptic polyadenylation site.

Flomen R, Makoff A.

Neurosci Lett. 2011 Jun 22;497(2):139-43. doi: 10.1016/j.neulet.2011.04.047. Epub 2011 May 5.

PMID:
21569822
4.

High-density SNP screen of sodium channel genes by haplotype tagging and DNA pooling for association with idiopathic generalized epilepsy.

Makoff A, Lai T, Barratt C, Valentin A, Moran N, Asherson P, Nashef L.

Epilepsia. 2010 Apr;51(4):694-8. doi: 10.1111/j.1528-1167.2009.02473.x. Epub 2009 Dec 22.

5.

CHRFAM7A copy number and 2-bp deletion polymorphisms and antisaccade performance.

Petrovsky N, Schmechtig A, Flomen RH, Kumari V, Collier D, Makoff A, Wagner M, Ettinger U.

Int J Neuropsychopharmacol. 2009 Mar;12(2):267-73. doi: 10.1017/S1461145708009784. Epub 2009 Jan 19.

PMID:
19149910
6.

A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+.

Hindocha N, Nabbout R, Elmslie F, Makoff A, Al-Chalabi A, Nashef L.

Epilepsia. 2009 Apr;50(4):937-42. doi: 10.1111/j.1528-1167.2008.01876.x. Epub 2008 Nov 19.

7.

Common inversion polymorphisms and rare microdeletions at 15q13.3.

Makoff A, Flomen R.

Eur J Hum Genet. 2009 Feb;17(2):149-50. doi: 10.1038/ejhg.2008.189. Epub 2008 Oct 15. No abstract available.

8.

The copy number variant involving part of the alpha7 nicotinic receptor gene contains a polymorphic inversion.

Flomen RH, Davies AF, Di Forti M, La Cascia C, Mackie-Ogilvie C, Murray R, Makoff AJ.

Eur J Hum Genet. 2008 Nov;16(11):1364-71. doi: 10.1038/ejhg.2008.112. Epub 2008 Jun 11.

9.

Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation.

Hindocha N, Nashef L, Elmslie F, Birch R, Zuberi S, Al-Chalabi A, Crotti L, Schwartz PJ, Makoff A.

Epilepsia. 2008 Feb;49(2):360-5. doi: 10.1111/j.1528-1167.2007.01439_2.x. No abstract available.

10.

Idiopathic generalized epilepsy with absences: syndrome classification.

Valentin A, Hindocha N, Osei-Lah A, Fisniku L, McCormick D, Asherson P, Moran N, Makoff A, Nashef L.

Epilepsia. 2007 Nov;48(11):2187-90. Epub 2007 Jul 30.

12.

Genetics of epilepsy: epilepsy research foundation workshop report.

Sisodiya S, Cross JH, Blümcke I, Chadwick D, Craig J, Crino PB, Debenham P, Delanty N, Elmslie F, Gardiner M, Golden J, Goldstein D, Greenberg DA, Guerrini R, Hanna M, Harris J, Harrison P, Johnson MR, Kirov G, Kullman DM, Makoff A, Marini C, Nabbout R, Nashef L, Noebels JL, Ottman R, Pirmohamed M, Pitkänen A, Scheffer I, Shorvon S, Sills G, Wood N, Zuberi S.

Epileptic Disord. 2007 Jun;9(2):194-236.

13.

Risk factors in sudden death in epilepsy (SUDEP): the quest for mechanisms.

Nashef L, Hindocha N, Makoff A.

Epilepsia. 2007 May;48(5):859-71. Epub 2007 Apr 13. Review.

14.

Linkage and association analysis of CACNG3 in childhood absence epilepsy.

Everett KV, Chioza B, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dulac O, Eeg-Olofsson O, Feucht M, Friis M, Goutieres F, Guerrini R, Heils A, Kjeldsen M, Lehesjoki AE, Makoff A, Nabbout R, Olsson I, Sander T, Sirén A, McKeigue P, Robinson R, Taske N, Rees M, Gardiner M.

Eur J Hum Genet. 2007 Apr;15(4):463-72. Epub 2007 Jan 31. Erratum in: Eur J Hum Genet. 2008 May;16(5):659-60.

15.

Linkage disequilibrium analysis of the CHRNA7 gene and its partially duplicated region in schizophrenia.

Iwata Y, Nakajima M, Yamada K, Nakamura K, Sekine Y, Tsuchiya KJ, Sugihara G, Matsuzaki H, Suda S, Suzuki K, Takei N, Mori N, Iwayama Y, Takao H, Yoshikawa T, Riley B, Makoff A, Sham P, Chen R, Collier D.

Neurosci Res. 2007 Feb;57(2):194-202. Epub 2006 Nov 17.

PMID:
17113175
16.

No association of single nucleotide polymorphisms in the micro-opioid receptor subunit gene with idiopathic generalized epilepsy.

Barratt C, Lai T, Nashef L, Valentin A, Fisniku L, Moran N, Asherson P, Makoff A.

Epilepsia. 2006 Oct;47(10):1728-31.

17.

Association study of CHRFAM7A copy number and 2 bp deletion polymorphisms with schizophrenia and bipolar affective disorder.

Flomen RH, Collier DA, Osborne S, Munro J, Breen G, St Clair D, Makoff AJ.

Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 5;141B(6):571-5.

PMID:
16823804
19.

The -1438A/G polymorphism in the 5-hydroxytryptamine type 2A receptor gene affects promoter activity.

Parsons MJ, D'Souza UM, Arranz MJ, Kerwin RW, Makoff AJ.

Biol Psychiatry. 2004 Sep 15;56(6):406-10.

PMID:
15364038
20.

Evidence that RNA editing modulates splice site selection in the 5-HT2C receptor gene.

Flomen R, Knight J, Sham P, Kerwin R, Makoff A.

Nucleic Acids Res. 2004 Apr 15;32(7):2113-22. Print 2004.

21.

An association study of the neurotensin receptor gene with schizophrenia and clozapine response.

Huezo-Diaz P, Arranz MJ, Munro J, Osborne S, Makoff A, Kerwin RW, Austin J, O'Donovan M.

Schizophr Res. 2004 Feb 1;66(2-3):193-5. No abstract available.

PMID:
15061255
22.

Haplotype association analysis of discrete and continuous traits using mixture of regression models.

Sham PC, Rijsdijk FV, Knight J, Makoff A, North B, Curtis D.

Behav Genet. 2004 Mar;34(2):207-14.

PMID:
14755185
23.

Do antidepressants regulate how cortisol affects the brain?

Pariante CM, Thomas SA, Lovestone S, Makoff A, Kerwin RW.

Psychoneuroendocrinology. 2004 May;29(4):423-47. Review.

PMID:
14749091
24.

Is haplotype tagging the panacea to association mapping studies?

Jawaid A, Sham PC, Makoff AJ, J Asherson P.

Eur J Hum Genet. 2004 Apr;12(4):259-62. No abstract available.

25.
26.

The antidepressant clomipramine regulates cortisol intracellular concentrations and glucocorticoid receptor expression in fibroblasts and rat primary neurones.

Pariante CM, Hye A, Williamson R, Makoff A, Lovestone S, Kerwin RW.

Neuropsychopharmacology. 2003 Sep;28(9):1553-61. Epub 2003 May 7.

27.

Evidence that the N-methyl-D-aspartate subunit 1 receptor gene (GRIN1) confers susceptibility to bipolar disorder.

Mundo E, Tharmalingham S, Neves-Pereira M, Dalton EJ, Macciardi F, Parikh SV, Bolonna A, Kerwin RW, Arranz MJ, Makoff AJ, Kennedy JL.

Mol Psychiatry. 2003 Feb;8(2):241-5.

PMID:
12610658
28.

Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy.

Chioza B, Osei-Lah A, Nashef L, Suarez-Merino B, Wilkie H, Sham P, Knight J, Asherson P, Makoff AJ.

Eur J Hum Genet. 2002 Dec;10(12):857-64.

29.

Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes.

Chioza B, Osei-Lah A, Wilkie H, Nashef L, McCormick D, Asherson P, Makoff AJ.

Epilepsy Res. 2002 Dec;52(2):107-16.

PMID:
12458027
30.

Investigation of promoter variants of the histamine 1 and 2 receptors in schizophrenia and clozapine response.

Mancama D, Arranz MJ, Munro J, Osborne S, Makoff A, Collier D, Kerwin R.

Neurosci Lett. 2002 Nov 29;333(3):207-11.

PMID:
12429384
31.

Association of mu-opioid receptor subunit gene and idiopathic generalized epilepsy.

Wilkie H, Osei-Lah A, Chioza B, Nashef L, McCormick D, Asherson P, Makoff AJ.

Neurology. 2002 Sep 10;59(5):724-8. Retraction in: Makoff A, Asherson P, Nashef L. Neurology. 2005 Feb 8;64(3):579.

PMID:
12221164
32.

Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14.

Taske NL, Williamson MP, Makoff A, Bate L, Curtis D, Kerr M, Kjeldsen MJ, Pang KA, Sundqvist A, Friis ML, Chadwick D, Richens A, Covanis A, Santos M, Arzimanoglou A, Panayiotopoulos CP, Whitehouse WP, Rees M, Gardiner RM.

Epilepsy Res. 2002 Apr;49(2):157-72.

PMID:
12049804
33.

A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14.

Riley B, Williamson M, Collier D, Wilkie H, Makoff A.

Genomics. 2002 Feb;79(2):197-209.

PMID:
11829490
34.

CACNA1A and P/Q-type calcium channels in epilepsy.

Chioza B, Nashef L, Asherson P, Makoff A.

Lancet. 2002 Jan 19;359(9302):258. No abstract available.

PMID:
11812585
35.

Antidepressants enhance glucocorticoid receptor function in vitro by modulating the membrane steroid transporters.

Pariante CM, Makoff A, Lovestone S, Feroli S, Heyden A, Miller AH, Kerwin RW.

Br J Pharmacol. 2001 Nov;134(6):1335-43.

36.

Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME.

Moore T, Hecquet S, McLellann A, Ville D, Grid D, Picard F, Moulard B, Asherson P, Makoff AJ, McCormick D, Nashef L, Froguel P, Arzimanoglou A, LeGuern E, Bailleul B.

Epilepsy Res. 2001 Aug;46(2):157-67.

PMID:
11463517
37.

RNA editing of the 5-HT(2C) receptor is reduced in schizophrenia.

Sodhi MS, Burnet PW, Makoff AJ, Kerwin RW, Harrison PJ.

Mol Psychiatry. 2001 Jul;6(4):373-9.

38.

Dishevelled regulates the metabolism of amyloid precursor protein via protein kinase C/mitogen-activated protein kinase and c-Jun terminal kinase.

Mudher A, Chapman S, Richardson J, Asuni A, Gibb G, Pollard C, Killick R, Iqbal T, Raymond L, Varndell I, Sheppard P, Makoff A, Gower E, Soden PE, Lewis P, Murphy M, Golde TE, Rupniak HT, Anderton BH, Lovestone S.

J Neurosci. 2001 Jul 15;21(14):4987-95.

39.

Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy.

Chioza B, Wilkie H, Nashef L, Blower J, McCormick D, Sham P, Asherson P, Makoff AJ.

Neurology. 2001 May 8;56(9):1245-6. No abstract available.

PMID:
11342703
40.

Polymorphisms in the genes for mGluR types 7 and 8: association studies with schizophrenia.

Bolonna AA, Kerwin RW, Munro J, Arranz MJ, Makoff AJ.

Schizophr Res. 2001 Jan 15;47(1):99-103.

PMID:
11163549
41.

Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and IGE.

Chioza B, Goodwin H, Blower J, McCormick D, Nashef L, Asherson P, Makoff AJ.

Am J Med Genet. 2000 Dec 4;96(6):814-6.

PMID:
11121188
42.

Haplotype transmission disequilibrium and evidence for linkage of the CHRNA7 gene region to schizophrenia in Southern African Bantu families.

Riley BP, Makoff A, Mogudi-Carter M, Jenkins T, Williamson R, Collier D, Murray R.

Am J Med Genet. 2000 Apr 3;96(2):196-201.

PMID:
10893497
43.

Association study of dopamine receptor gene polymorphisms with drug-induced hallucinations in patients with idiopathic Parkinson's disease.

Makoff AJ, Graham JM, Arranz MJ, Forsyth J, Li T, Aitchison KJ, Shaikh S, Grünewald RA.

Pharmacogenetics. 2000 Feb;10(1):43-8.

PMID:
10739171
44.

No association found between polymorphisms in genes encoding mGluR7 and mGluR8 and idiopathic generalised epilepsy in a case control study.

Goodwin H, Curran N, Chioza B, Blower J, Nashef L, Asherson P, Makoff AJ.

Epilepsy Res. 2000 Mar;39(1):27-31.

PMID:
10690750
45.

Failure to respond to treatment with typical antipsychotics is not associated with CYP2D6 ultrarapid hydroxylation.

Aitchison KJ, Munro J, Wright P, Smith S, Makoff AJ, Sachse C, Sham PC, Murray RM, Collier DA, Kerwin RW.

Br J Clin Pharmacol. 1999 Sep;48(3):388-94.

46.

Molecular cloning of human GABABR1 and its tissue distribution.

Makoff A.

Brain Res Mol Brain Res. 1999 Jan 22;64(1):137-40.

PMID:
9889352
47.

Immunohistochemical localisation of mGluR7 protein in the rodent and human cerebellar cortex using subtype specific antibodies.

Phillips T, Makoff A, Murrison E, Mimmack M, Waldvogel H, Faull R, Rees S, Emson P.

Brain Res Mol Brain Res. 1998 Jun 1;57(1):132-41.

PMID:
9630572
48.

Localization of mGluR4 protein in the rat cerebral cortex and hippocampus.

Phillips T, Makoff A, Brown S, Rees S, Emson P.

Neuroreport. 1997 Oct 20;8(15):3349-54.

PMID:
9351670
49.

Expression of a novel splice variant of human mGluR1 in the cerebellum.

Makoff AJ, Phillips T, Pilling C, Emson P.

Neuroreport. 1997 Sep 8;8(13):2943-7.

PMID:
9376535
50.

Human metabotropic glutamate receptor type 7: molecular cloning and mRNA distribution in the CNS.

Makoff A, Pilling C, Harrington K, Emson P.

Brain Res Mol Brain Res. 1996 Aug;40(1):165-70.

PMID:
8840028

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