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Items: 1 to 50 of 67

1.

De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity.

Ladds E, Whitney A, Dombi E, Hofer M, Anand G, Harrison V, Fratter C, Carver J, Barbosa IA, Simpson M, Jayawant S, Poulton J.

Neurol Genet. 2018 Aug 2;4(4):e258. doi: 10.1212/NXG.0000000000000258. eCollection 2018 Aug. No abstract available.

2.

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M.

J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30.

3.

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH.

Am J Hum Genet. 2017 Nov 2;101(5):866. doi: 10.1016/j.ajhg.2017.10.008. No abstract available.

4.

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Jayawant S, Lickiss J, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH.

Am J Hum Genet. 2017 Oct 5;101(4):638. doi: 10.1016/j.ajhg.2017.09.006. No abstract available.

5.

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH.

Am J Hum Genet. 2017 Sep 7;101(3):451-458. doi: 10.1016/j.ajhg.2017.08.005. Erratum in: Am J Hum Genet. 2017 Oct 5;101(4):638. Am J Hum Genet. 2017 Nov 2;101(5):866.

6.

Symptomatic stroke complicating central skull base osteomyelitis following otitis media in a 2-year old boy: Case report and review of the literature.

Kilich E, Dwivedi R, Segal S, Jayawant S, Sadarangani M.

Int J Pediatr Otorhinolaryngol. 2016 Oct;89:140-4. doi: 10.1016/j.ijporl.2016.08.003. Epub 2016 Aug 5. Review.

PMID:
27619045
7.

Autosomal dominant SCN8A mutation with an unusually mild phenotype.

Anand G, Collett-White F, Orsini A, Thomas S, Jayapal S, Trump N, Zaiwalla Z, Jayawant S.

Eur J Paediatr Neurol. 2016 Sep;20(5):761-5. doi: 10.1016/j.ejpn.2016.04.015. Epub 2016 Apr 30.

PMID:
27210545
8.

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

Dombi E, Diot A, Morten K, Carver J, Lodge T, Fratter C, Ng YS, Liao C, Muir R, Blakely EL, Hargreaves I, Al-Dosary M, Sarkar G, Hickman SJ, Downes SM, Jayawant S, Yu-Wai-Man P, Taylor RW, Poulton J.

Neurology. 2016 May 17;86(20):1921-3. doi: 10.1212/WNL.0000000000002688. Epub 2016 Apr 22. No abstract available.

9.

Muscle magnetic resonance imaging in congenital myasthenic syndromes.

Finlayson S, Morrow JM, Rodriguez Cruz PM, Sinclair CD, Fischmann A, Thornton JS, Knight S, Norbury R, White M, Al-Hajjar M, Carboni N, Jayawant S, Robb SA, Yousry TA, Beeson D, Palace J.

Muscle Nerve. 2016 Aug;54(2):211-9. doi: 10.1002/mus.25035. Epub 2016 Feb 22.

10.

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.

Logan CV, Cossins J, Rodríguez Cruz PM, Parry DA, Maxwell S, Martínez-Martínez P, Riepsaame J, Abdelhamed ZA, Lake AV, Moran M, Robb S, Chow G, Sewry C, Hopkins PM, Sheridan E, Jayawant S, Palace J, Johnson CA, Beeson D.

Am J Hum Genet. 2015 Dec 3;97(6):878-85. doi: 10.1016/j.ajhg.2015.10.017. Epub 2015 Nov 25.

11.

Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes.

Rodríguez Cruz PM, Palace J, Ramjattan H, Jayawant S, Robb SA, Beeson D.

Neurology. 2015 Sep 22;85(12):1043-7.

12.

De novo point mutations in patients diagnosed with ataxic cerebral palsy.

Parolin Schnekenberg R, Perkins EM, Miller JW, Davies WI, D'Adamo MC, Pessia M, Fawcett KA, Sims D, Gillard E, Hudspith K, Skehel P, Williams J, O'Regan M, Jayawant S, Jefferson R, Hughes S, Lustenberger A, Ragoussis J, Jackson M, Tucker SJ, Németh AH.

Brain. 2015 Jul;138(Pt 7):1817-32. doi: 10.1093/brain/awv117. Epub 2015 May 16. Erratum in: Brain. 2016 Feb;139(Pt 2):e14.

13.

Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia Gravis.

Rodríguez Cruz PM, Al-Hajjar M, Huda S, Jacobson L, Woodhall M, Jayawant S, Buckley C, Hilton-Jones D, Beeson D, Vincent A, Leite MI, Palace J.

JAMA Neurol. 2015 Jun;72(6):642-9. doi: 10.1001/jamaneurol.2015.0203.

14.

Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.

Brunklaus A, Ellis R, Stewart H, Aylett S, Reavey E, Jefferson R, Jain R, Chakraborty S, Jayawant S, Zuberi SM.

Eur J Paediatr Neurol. 2015 Jul;19(4):484-8. doi: 10.1016/j.ejpn.2015.02.001. Epub 2015 Feb 21.

PMID:
25795284
15.

H1N1 triggered recurrent acute necrotizing encephalopathy in a family with a T653I mutation in the RANBP2 gene.

Anand G, Visagan R, Chandratre S, Segal S, Nemeth AH, Squier W, Sheerin F, Neilson D, Jayawant S.

Pediatr Infect Dis J. 2015 Mar;34(3):318-20. doi: 10.1097/INF.0000000000000533.

PMID:
25170550
16.

Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.

Rodríguez Cruz PM, Sewry C, Beeson D, Jayawant S, Squier W, McWilliam R, Palace J.

Neuromuscul Disord. 2014 Dec;24(12):1103-10. doi: 10.1016/j.nmd.2014.07.005. Epub 2014 Jul 30. Review.

PMID:
25127990
17.

Infantile neuroaxonal dystrophy caused by uniparental disomy.

Solomons J, Ridgway O, Hardy C, Kurian MA, Jayawant S, Hughes S, Pretorius P, Németh AH.

Dev Med Child Neurol. 2014 Apr;56(4):386-9. doi: 10.1111/dmcn.12327. Epub 2013 Nov 15. Erratum in: Dev Med Child Neurol. 2014 Jul;56(7):698. Kurian, Manju [corrected to Kurian, Manju A].

18.

How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia.

Parr JR, Andrew MJ, Finnis M, Beeson D, Vincent A, Jayawant S.

Arch Dis Child. 2014 Jun;99(6):539-42. doi: 10.1136/archdischild-2013-304788. Epub 2014 Feb 5.

PMID:
24500997
19.

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.

Németh AH, Kwasniewska AC, Lise S, Parolin Schnekenberg R, Becker EB, Bera KD, Shanks ME, Gregory L, Buck D, Zameel Cader M, Talbot K, de Silva R, Fletcher N, Hastings R, Jayawant S, Morrison PJ, Worth P, Taylor M, Tolmie J, O'Regan M; UK Ataxia Consortium, Valentine R, Packham E, Evans J, Seller A, Ragoussis J.

Brain. 2013 Oct;136(Pt 10):3106-18. doi: 10.1093/brain/awt236. Epub 2013 Sep 11.

20.

DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.

Klein A, Pitt MC, McHugh JC, Niks EH, Sewry CA, Phadke R, Feng L, Manzur AY, Tirupathi S, Devile C, Jayawant S, Finlayson S, Palace J, Muntoni F, Beeson D, Robb SA.

Neuromuscul Disord. 2013 Nov;23(11):883-91. doi: 10.1016/j.nmd.2013.06.002. Epub 2013 Jul 3.

PMID:
23831158
21.

Autoimmune myasthenia gravis.

Jayawant S, Parr J, Vincent A.

Handb Clin Neurol. 2013;113:1465-8. doi: 10.1016/B978-0-444-59565-2.00015-0. Review.

PMID:
23622368
22.

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

Lise S, Clarkson Y, Perkins E, Kwasniewska A, Sadighi Akha E, Schnekenberg RP, Suminaite D, Hope J, Baker I, Gregory L, Green A, Allan C, Lamble S, Jayawant S, Quaghebeur G, Cader MZ, Hughes S, Armstrong RJ, Kanapin A, Rimmer A, Lunter G, Mathieson I, Cazier JB, Buck D, Taylor JC, Bentley D, McVean G, Donnelly P, Knight SJ, Jackson M, Ragoussis J, Németh AH.

PLoS Genet. 2012;8(12):e1003074. doi: 10.1371/journal.pgen.1003074. Epub 2012 Dec 6.

23.

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.

Jain RK, Jayawant S, Squier W, Muntoni F, Sewry CA, Manzur A, Quinlivan R, Lillis S, Jungbluth H, Sparrow JC, Ravenscroft G, Nowak KJ, Memo M, Marston SB, Laing NG.

Neurology. 2012 Apr 3;78(14):1100-3. doi: 10.1212/WNL.0b013e31824e8ebe. Epub 2012 Mar 21. No abstract available. Erratum in: Neurology. 2012 May 22;78(21):1704.

PMID:
22442437
24.

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.

Pagnamenta AT, Lise S, Harrison V, Stewart H, Jayawant S, Quaghebeur G, Deng AT, Murphy VE, Sadighi Akha E, Rimmer A, Mathieson I, Knight SJ, Kini U, Taylor JC, Keays DA.

J Hum Genet. 2012 Jan;57(1):70-2. doi: 10.1038/jhg.2011.128. Epub 2011 Dec 1.

PMID:
22129557
25.

Juvenile myasthenia gravis: a paediatric perspective.

Finnis MF, Jayawant S.

Autoimmune Dis. 2011;2011:404101. doi: 10.4061/2011/404101. Epub 2011 Nov 1.

26.

Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome.

Anand G, Hasan N, Jayapal S, Huma Z, Ali T, Hull J, Blair E, McShane T, Jayawant S.

Dev Med Child Neurol. 2012 Feb;54(2):187-9. doi: 10.1111/j.1469-8749.2011.04142.x. Epub 2011 Nov 18.

27.

Video EEG outcome on children referred following a single unprovoked afebrile seizure.

Anand G, Padeniya A, Jain R, Hasan N, Pike M, Jayawant S, McShane T, Zaiwalla Z.

Arch Dis Child. 2012 Jan;97(1):90. doi: 10.1136/archdischild-2011-300960. Epub 2011 Oct 6. No abstract available.

PMID:
21979135
28.

Clinical features in a series of fast channel congenital myasthenia syndrome.

Palace J, Lashley D, Bailey S, Jayawant S, Carr A, McConville J, Robb S, Beeson D.

Neuromuscul Disord. 2012 Feb;22(2):112-7. doi: 10.1016/j.nmd.2011.08.002. Epub 2011 Sep 21.

PMID:
21940170
29.

Electroclinical outcome of children referred with suspected absence seizures.

Anand G, Padeniya A, Jain R, Hasan N, Jayawant S, Pike M, McShane T, Zaiwalla Z.

Arch Dis Child. 2011 Oct;96(10):987-8. doi: 10.1136/archdischild-2011-300531. Epub 2011 Sep 8. No abstract available.

PMID:
21908420
30.

It is all in the history, or is it?

Anand G, Jayawant S, McShane T, Pike M.

Arch Dis Child Educ Pract Ed. 2012 Feb;97(1):17-22. doi: 10.1136/adc.2010.202986. Epub 2011 Jun 22. No abstract available.

PMID:
21697234
31.

Milder phenotypes of glucose transporter type 1 deficiency syndrome.

Anand G, Padeniya A, Hanrahan D, Scheffer H, Zaiwalla Z, Cox D, Mann N, Hewertson J, Price S, Nemeth A, Arsov T, Scheffer I, Jayawant S, Pike M, McShane T.

Dev Med Child Neurol. 2011 Jul;53(7):664-8. doi: 10.1111/j.1469-8749.2011.03949.x. Epub 2011 Mar 24.

32.

Muscle histology vs MRI in Duchenne muscular dystrophy.

Kinali M, Arechavala-Gomeza V, Cirak S, Glover A, Guglieri M, Feng L, Hollingsworth KG, Hunt D, Jungbluth H, Roper HP, Quinlivan RM, Gosalakkal JA, Jayawant S, Nadeau A, Hughes-Carre L, Manzur AY, Mercuri E, Morgan JE, Straub V, Bushby K, Sewry C, Rutherford M, Muntoni F.

Neurology. 2011 Jan 25;76(4):346-53. doi: 10.1212/WNL.0b013e318208811f.

33.

Alexander disease with periventricular calcification: a novel mutation of the GFAP gene.

Jefferson RJ, Absoud M, Jain R, Livingston JH, VAN DER Knaap MS, Jayawant S.

Dev Med Child Neurol. 2010 Dec;52(12):1160-3. doi: 10.1111/j.1469-8749.2010.03784.x. Epub 2010 Oct 21.

34.

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.

Munot P, Lashley D, Jungbluth H, Feng L, Pitt M, Robb SA, Palace J, Jayawant S, Kennet R, Beeson D, Cullup T, Abbs S, Laing N, Sewry C, Muntoni F.

Neuromuscul Disord. 2010 Dec;20(12):796-800. doi: 10.1016/j.nmd.2010.07.274. Epub 2010 Oct 14.

PMID:
20951040
35.

X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode.

Anand G, Maheshwari N, Roberts D, Padeniya A, Hamilton-Ayers M, van der Knaap M, Fratter C, Jayawant S.

Dev Med Child Neurol. 2010 Jul;52(7):677-9. doi: 10.1111/j.1469-8749.2010.03674.x. Epub 2010 May 14.

36.

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.

Lashley D, Palace J, Jayawant S, Robb S, Beeson D.

Neurology. 2010 May 11;74(19):1517-23. doi: 10.1212/WNL.0b013e3181dd43bf.

37.

Predictors of response to sequential sunitinib and the impact of prior VEGF-targeted drug washout in patients with metastatic clear-cell renal cell carcinoma.

Elfiky AA, Cho DC, McDermott DF, Rosenberg JE, Fortner B, Antràs L, Chen K, Sheng Duh M, Jayawant SS, Oh WK, Atkins MB, Choueiri TK.

Urol Oncol. 2011 Nov-Dec;29(6):756-63. doi: 10.1016/j.urolonc.2010.01.008. Epub 2010 May 6.

PMID:
20451414
38.

Costs associated with cardiovascular events in patients with hypertension in US managed care settings.

Duh MS, Fulcher NM, White LA, Jayawant SS, Ramamurthy P, Moyneur E, Ong SH.

J Am Soc Hypertens. 2009 Nov-Dec;3(6):403-15. doi: 10.1016/j.jash.2009.09.001.

PMID:
20409983
39.

WITHDRAWN: Nemaline myopathy presenting as a stiff baby.

Jain RK, Jayawant S.

Neuromuscul Disord. 2010 Mar 20. [Epub ahead of print]

PMID:
20304646
40.

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L, McMenamin J, Meuwissen ME, Mundy H, Nilsson NO, Panzer A, Poll-The BT, Rauscher C, Rouselle CM, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P, Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA.

Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2.

PMID:
20129935
41.

Angiogenesis inhibitor therapies for metastatic renal cell carcinoma: effectiveness, safety and treatment patterns in clinical practice-based on medical chart review.

Choueiri TK, Duh MS, Clement J, Brick AJ, Rogers MJ, Kwabi C, Shah K, Percy AG, Antràs L, Jayawant SS, Chen K, Wang ST, Luka A, Neary MP, McDermott D, Oh WK.

BJU Int. 2010 May;105(9):1247-54. doi: 10.1111/j.1464-410X.2009.08972.x. Epub 2009 Oct 26.

42.

A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder.

Absoud M, Parr JR, Halliday D, Pretorius P, Zaiwalla Z, Jayawant S.

Dev Med Child Neurol. 2010 Mar;52(3):305-7. doi: 10.1111/j.1469-8749.2009.03470.x. Epub 2010 Feb 4.

43.

Treatment of anemia among women with chronic kidney disease in United States outpatient settings.

Rasu RS, Jayawant SS, Abercrombie M, Balkrishnan R.

Womens Health Issues. 2009 May-Jun;19(3):211-9. doi: 10.1016/j.whi.2009.03.003.

PMID:
19447325
44.

Prescription refills and healthcare costs associated with topical metronidazole in Medicaid enrolled patients with rosacea.

Jayawant SS, Feldman SR, Camacho FT, Yentzer B, Balkrishnan R.

J Dermatolog Treat. 2008;19(5):267-73. doi: 10.1080/09546630801955176.

PMID:
19160531
45.

Asthma pharmacotherapy prescribing in the ambulatory population of the United States: evidence of nonadherence to national guidelines and implications for elderly people.

Navaratnam P, Jayawant SS, Pedersen CA, Balkrishnan R.

J Am Geriatr Soc. 2008 Jul;56(7):1312-7. doi: 10.1111/j.1532-5415.2008.01767.x. Epub 2008 May 26.

PMID:
18510581
46.

Physician adherence to the national asthma prescribing guidelines: evidence from national outpatient survey data in the United States.

Navaratnam P, Jayawant SS, Pedersen CA, Balkrishnan R.

Ann Allergy Asthma Immunol. 2008 Mar;100(3):216-21. doi: 10.1016/S1081-1206(10)60445-0.

PMID:
18426140
47.

The controversy surrounding OxyContin abuse: issues and solutions.

Jayawant SS, Balkrishnan R.

Ther Clin Risk Manag. 2005 Jun;1(2):77-82.

48.

Comparison of the Short-Form Survey 12 and the MacNew Heart Disease Health-Related Quality of Life Survey among patients with cardiac disease.

Sansgiry SS, Chien C, Jayawant SS, Raju A.

Ann Pharmacother. 2008 Feb;42(2):200-6. doi: 10.1345/aph.1K092. Epub 2008 Jan 22.

PMID:
18212260
49.

The economic burden associated with SSRI treatment failure in a managed care population.

Balkrishnan R, Joish VN, Yang T, Jayawant SS, Mullins CD.

J Med Econ. 2008;11(4):601-10. doi: 10.3111/13696990802522339.

PMID:
19450070
50.

Quality of dermatologic care delivered by physician assistants: an analysis of prescribing behavior for the combination antifungal agent clotrimazole-betamethasone.

Satyaprakash A, Balkrishnan R, Camacho FT, Jayawant SS, Fleischer AB Jr, Feldman SR.

Arch Dermatol. 2007 Dec;143(12):1591-2. No abstract available.

PMID:
18087018

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