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Items: 35

1.

Corrigendum: Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex.

Harkin LF, Lindsay SJ, Xu Y, Alzu'bi A, Ferrera A, Gullon EA, James OG, Clowry GJ.

Cereb Cortex. 2019 Apr 1;29(4):1705. doi: 10.1093/cercor/bhz012. No abstract available.

2.

Problematic Smartphone Use: Investigating Contemporary Experiences Using a Convergent Design.

Kuss DJ, Harkin L, Kanjo E, Billieux J.

Int J Environ Res Public Health. 2018 Jan 16;15(1). pii: E142. doi: 10.3390/ijerph15010142.

3.

The Transcription Factors COUP-TFI and COUP-TFII have Distinct Roles in Arealisation and GABAergic Interneuron Specification in the Early Human Fetal Telencephalon.

Alzu'bi A, Lindsay SJ, Harkin LF, McIntyre J, Lisgo SN, Clowry GJ.

Cereb Cortex. 2017 Oct 1;27(10):4971-4987. doi: 10.1093/cercor/bhx185.

4.

Charting the protomap of the human telencephalon.

Clowry GJ, Alzu'bi A, Harkin LF, Sarma S, Kerwin J, Lindsay SJ.

Semin Cell Dev Biol. 2018 Apr;76:3-14. doi: 10.1016/j.semcdb.2017.08.033. Epub 2017 Aug 20. Review.

PMID:
28834762
5.

Navigating cancer using online communities: a grounded theory of survivor and family experiences.

Harkin LJ, Beaver K, Dey P, Choong K.

J Cancer Surviv. 2017 Dec;11(6):658-669. doi: 10.1007/s11764-017-0616-1. Epub 2017 May 3.

6.

Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex.

Harkin LF, Lindsay SJ, Xu Y, Alzu'bi A, Ferrara A, Gullon EA, James OG, Clowry GJ.

Cereb Cortex. 2017 Jan 1;27(1):216-232. doi: 10.1093/cercor/bhw394. Erratum in: Cereb Cortex. 2019 Apr 1;29(4):1705.

7.

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development.

Lindsay SJ, Xu Y, Lisgo SN, Harkin LF, Copp AJ, Gerrelli D, Clowry GJ, Talbot A, Keogh MJ, Coxhead J, Santibanez-Koref M, Chinnery PF.

Front Neuroanat. 2016 Oct 26;10:86. eCollection 2016. No abstract available.

8.

Distinct expression patterns for type II topoisomerases IIA and IIB in the early foetal human telencephalon.

Harkin LF, Gerrelli D, Gold Diaz DC, Santos C, Alzu'bi A, Austin CA, Clowry GJ.

J Anat. 2016 Mar;228(3):452-63. doi: 10.1111/joa.12416. Epub 2015 Nov 27.

9.

Developmental lineage priming in Dictyostelium by heterogeneous Ras activation.

Chattwood A, Nagayama K, Bolourani P, Harkin L, Kamjoo M, Weeks G, Thompson CR.

Elife. 2013 Nov 26;2:e01067. doi: 10.7554/eLife.01067.

10.

The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies.

Dibbens LM, Harkin LA, Richards M, Hodgson BL, Clarke AL, Petrou S, Scheffer IE, Berkovic SF, Mulley JC.

Neurosci Lett. 2009 Apr 10;453(3):162-5. doi: 10.1016/j.neulet.2009.02.038. Epub 2009 Feb 21.

PMID:
19429026
11.

Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.

Xu R, Thomas EA, Gazina EV, Richards KL, Quick M, Wallace RH, Harkin LA, Heron SE, Berkovic SF, Scheffer IE, Mulley JC, Petrou S.

Neuroscience. 2007 Aug 10;148(1):164-74. Epub 2007 Jul 12.

PMID:
17629415
12.

The spectrum of SCN1A-related infantile epileptic encephalopathies.

Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A; Infantile Epileptic Encephalopathy Referral Consortium, Sutherland G, Berkovic SF, Mulley JC, Scheffer IE.

Brain. 2007 Mar;130(Pt 3):843-52.

PMID:
17347258
13.

NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity.

Dibbens LM, Ekberg J, Taylor I, Hodgson BL, Conroy SJ, Lensink IL, Kumar S, Zielinski MA, Harkin LA, Sutherland GR, Adams DJ, Berkovic SF, Scheffer IE, Mulley JC, Poronnik P.

Genes Brain Behav. 2007 Nov;6(8):750-5. Epub 2007 Feb 26.

14.

Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults.

Jansen FE, Sadleir LG, Harkin LA, Vadlamudi L, McMahon JM, Mulley JC, Scheffer IE, Berkovic SF.

Neurology. 2006 Dec 26;67(12):2224-6.

PMID:
17190949
15.

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

Scheffer IE, Harkin LA, Grinton BE, Dibbens LM, Turner SJ, Zielinski MA, Xu R, Jackson G, Adams J, Connellan M, Petrou S, Wellard RM, Briellmann RS, Wallace RH, Mulley JC, Berkovic SF.

Brain. 2007 Jan;130(Pt 1):100-9. Epub 2006 Oct 4.

PMID:
17020904
16.

A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.

Mulley JC, Nelson P, Guerrero S, Dibbens L, Iona X, McMahon JM, Harkin L, Schouten J, Yu S, Berkovic SF, Scheffer IE.

Neurology. 2006 Sep 26;67(6):1094-5.

PMID:
17000989
17.

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

Berkovic SF, Harkin L, McMahon JM, Pelekanos JT, Zuberi SM, Wirrell EC, Gill DS, Iona X, Mulley JC, Scheffer IE.

Lancet Neurol. 2006 Jun;5(6):488-92.

PMID:
16713920
18.

Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).

Scheffer IE, Harkin LA, Dibbens LM, Mulley JC, Berkovic SF.

Epilepsia. 2005;46 Suppl 10:41-7. Review. No abstract available.

19.

Susceptibility genes for complex epilepsy.

Mulley JC, Scheffer IE, Harkin LA, Berkovic SF, Dibbens LM.

Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R243-9. Review.

PMID:
16244322
20.

SCN1A mutations and epilepsy.

Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA.

Hum Mutat. 2005 Jun;25(6):535-42. Review.

PMID:
15880351
21.

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

Marazita ML, Murray JC, Lidral AC, Arcos-Burgos M, Cooper ME, Goldstein T, Maher BS, Daack-Hirsch S, Schultz R, Mansilla MA, Field LL, Liu YE, Prescott N, Malcolm S, Winter R, Ray A, Moreno L, Valencia C, Neiswanger K, Wyszynski DF, Bailey-Wilson JE, Albacha-Hejazi H, Beaty TH, McIntosh I, Hetmanski JB, Tunçbilek G, Edwards M, Harkin L, Scott R, Roddick LG.

Am J Hum Genet. 2004 Aug;75(2):161-73. Epub 2004 Jun 4.

22.

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.

Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC.

Hum Mol Genet. 2004 Jul 1;13(13):1315-9. Epub 2004 Apr 28.

PMID:
15115768
23.

Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.

Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Wallace RH, Mulley JC, Berkovic SF.

Epilepsia. 2004 May;45(5):467-78.

24.

LGI1 mutations in temporal lobe epilepsies.

Berkovic SF, Izzillo P, McMahon JM, Harkin LA, McIntosh AM, Phillips HA, Briellmann RS, Wallace RH, Mazarib A, Neufeld MY, Korczyn AD, Scheffer IE, Mulley JC.

Neurology. 2004 Apr 13;62(7):1115-9.

PMID:
15079010
25.

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE.

Neurology. 2003 Sep 23;61(6):765-9.

PMID:
14504318
26.

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

Marini C, Harkin LA, Wallace RH, Mulley JC, Scheffer IE, Berkovic SF.

Brain. 2003 Jan;126(Pt 1):230-40.

PMID:
12477709
27.

Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.

Bowser DN, Wagner DA, Czajkowski C, Cromer BA, Parker MW, Wallace RH, Harkin LA, Mulley JC, Marini C, Berkovic SF, Williams DA, Jones MV, Petrou S.

Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15170-5. Epub 2002 Nov 1.

28.

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, Richards MC, Williams DA, Mulley JC, Berkovic SF, Scheffer IE, Petrou S.

Am J Hum Genet. 2002 Feb;70(2):530-6. Epub 2001 Dec 17.

29.

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF.

Nat Genet. 2001 May;28(1):49-52.

PMID:
11326275
30.
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32.

Formation of novel C1-oxidised abasic sites in alkylperoxyl radical-damaged plasmid DNA.

Harkin LA, Burcham PC.

Biochem Biophys Res Commun. 1997 Aug 8;237(1):1-5.

PMID:
9266818
33.
34.
35.

Nerve growth factor mRNA content parallels altered sympathetic innervation in the spontaneously hypertensive rat.

Falckh PH, Harkin LA, Head RJ.

Clin Exp Pharmacol Physiol. 1992 Aug;19(8):541-5.

PMID:
1526060

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