Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 87

1.

Anti-N-Methyl-d-Aspartate Receptor Encephalitis Presenting as Isolated Psychosis in an Adolescent Female.

Curnow SR, Chow S, Yiu EM, Kornberg AJ.

Pediatr Neurol. 2019 Aug;97:76-77. doi: 10.1016/j.pediatrneurol.2019.03.016. Epub 2019 Mar 28. No abstract available.

PMID:
31023607
2.

Insights into the genotype-phenotype correlation and molecular function of SLC25A46.

Abrams AJ, Fontanesi F, Tan NBL, Buglo E, Campeanu IJ, Rebelo AP, Kornberg AJ, Phelan DG, Stark Z, Zuchner S.

Hum Mutat. 2018 Dec;39(12):1995-2007. doi: 10.1002/humu.23639. Epub 2018 Sep 17.

PMID:
30178502
3.

Elevated Creatine Kinase in a 6-Year-Old Boy.

Chan EK, Kornberg AJ.

Semin Pediatr Neurol. 2018 Jul;26:46-49. doi: 10.1016/j.spen.2017.03.003. Epub 2017 Apr 1.

PMID:
29961517
4.

Acute flaccid myelitis in childhood: a retrospective cohort study.

Andersen EW, Kornberg AJ, Freeman JL, Leventer RJ, Ryan MM.

Eur J Neurol. 2017 Aug;24(8):1077-1083. doi: 10.1111/ene.13345. Epub 2017 Jun 22.

PMID:
28639345
5.

Incidence and prevalence of NMOSD in Australia and New Zealand.

Bukhari W, Prain KM, Waters P, Woodhall M, O'Gorman CM, Clarke L, Silvestrini RA, Bundell CS, Abernethy D, Bhuta S, Blum S, Boggild M, Boundy K, Brew BJ, Brown M, Brownlee WJ, Butzkueven H, Carroll WM, Chen C, Coulthard A, Dale RC, Das C, Dear K, Fabis-Pedrini MJ, Fulcher D, Gillis D, Hawke S, Heard R, Henderson APD, Heshmat S, Hodgkinson S, Jimenez-Sanchez S, Killpatrick T, King J, Kneebone C, Kornberg AJ, Lechner-Scott J, Lin MW, Lynch C, Macdonell R, Mason DF, McCombe PA, Pender MP, Pereira JA, Pollard JD, Reddel SW, Shaw C, Spies J, Stankovich J, Sutton I, Vucic S, Walsh M, Wong RC, Yiu EM, Barnett MH, Kermode AG, Marriott MP, Parratt JDE, Slee M, Taylor BV, Willoughby E, Wilson RJ, Vincent A, Broadley SA.

J Neurol Neurosurg Psychiatry. 2017 Aug;88(8):632-638. doi: 10.1136/jnnp-2016-314839. Epub 2017 May 26.

6.

Integrating telehealth in to 'business as usual': Is it really possible?

Jury SC, Kornberg AJ.

J Telemed Telecare. 2016 Dec;22(8):499-503.

PMID:
27799455
7.

Acute disseminated encephalomyelitis: Updates on an inflammatory CNS syndrome.

Pohl D, Alper G, Van Haren K, Kornberg AJ, Lucchinetti CF, Tenembaum S, Belman AL.

Neurology. 2016 Aug 30;87(9 Suppl 2):S38-45. doi: 10.1212/WNL.0000000000002825. Review.

PMID:
27572859
8.

International Pediatric MS Study Group Global Members Symposium report.

Wassmer E, Chitnis T, Pohl D, Amato MP, Banwell B, Ghezzi A, Hintzen RQ, Krupp LB, Makhani N, Rostásy K, Tardieu M, Tenembaum S, Waldman A, Waubant E, Kornberg AJ.

Neurology. 2016 Aug 30;87(9 Suppl 2):S110-6. doi: 10.1212/WNL.0000000000002880. Review.

PMID:
27572855
9.

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC.

Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212.

10.

Altered conscious state as a presentation of the syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis (HaNDL syndrome) in a paediatric patient.

Armiento R, Kornberg AJ.

J Paediatr Child Health. 2016 Jul;52(7):774-6. doi: 10.1111/jpc.13199. Epub 2016 May 31. No abstract available.

PMID:
27243666
11.

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH.

Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21.

12.

Management of severe faecal impaction in an adolescent with Duchenne muscular dystrophy (DMD) receiving palliative care.

Jordan-Ely J, Dobson KM, Appaduray S, Hynson J, Kornberg AJ, Hutson JM, Southwell BR.

J Paediatr Child Health. 2015 Mar;51(3):351-2. doi: 10.1111/jpc.12859. No abstract available.

PMID:
25758316
13.

Duchenne muscular dystrophy.

Yiu EM, Kornberg AJ.

J Paediatr Child Health. 2015 Aug;51(8):759-64. doi: 10.1111/jpc.12868. Epub 2015 Mar 9. Review.

PMID:
25752877
14.

A diagnostic approach to recurrent myalgia and rhabdomyolysis in children.

Chan EK, Kornberg AJ, Ryan MM.

Arch Dis Child. 2015 Aug;100(8):793-7. doi: 10.1136/archdischild-2014-307663. Epub 2015 Jan 29. Review.

PMID:
25633066
15.

Data review of an ongoing telehealth programme in a tertiary paediatric hospital.

Jury SC, Kornberg AJ.

J Telemed Telecare. 2014 Oct;20(7):384-90. doi: 10.1177/1357633X14552375.

PMID:
25399999
16.

Observations of body mass index in Duchenne muscular dystrophy: a longitudinal study.

Davidson ZE, Ryan MM, Kornberg AJ, Sinclair K, Cairns A, Walker KZ, Truby H.

Eur J Clin Nutr. 2014 Aug;68(8):892-7. doi: 10.1038/ejcn.2014.93. Epub 2014 May 14.

PMID:
24824013
17.

Strong correlation between the 6-minute walk test and accelerometry functional outcomes in boys with Duchenne muscular dystrophy.

Davidson ZE, Ryan MM, Kornberg AJ, Walker KZ, Truby H.

J Child Neurol. 2015 Mar;30(3):357-63. doi: 10.1177/0883073814530502. Epub 2014 Apr 23.

PMID:
24762862
18.

The introduction of web-based video-consultation in a paediatric acute care setting.

Jury SC, Walker AM, Kornberg AJ.

J Telemed Telecare. 2013 Oct;19(7):383-7. doi: 10.1177/1357633X13506530.

PMID:
24218350
19.

Clinical features and disease course of patients with juvenile dermatomyositis.

Gowdie PJ, Allen RC, Kornberg AJ, Akikusa JD.

Int J Rheum Dis. 2013 Oct;16(5):561-7. doi: 10.1111/1756-185X.12107. Epub 2013 Jun 3.

PMID:
24164844
20.

Multiple sclerosis and cancer: when two wrongs make a right?

Deery B, Anderson VA, Greenham M, Kornberg AJ.

Dev Neurorehabil. 2014 Jun;17(3):147-55. doi: 10.3109/17518423.2012.741148. Epub 2013 Oct 8.

PMID:
24102335
21.

High resolution chromosomal microarray in undiagnosed neurological disorders.

Howell KB, Kornberg AJ, Harvey AS, Ryan MM, Mackay MT, Freeman JL, Rodriguez Casero MV, Collins KJ, Hayman M, Mohamed A, Ware TL, Clark D, Bruno DL, Burgess T, Slater H, McGillivray G, Leventer RJ.

J Paediatr Child Health. 2013 Sep;49(9):716-24. doi: 10.1111/jpc.12256. Epub 2013 Jun 3.

PMID:
23731025
22.

Childhood chronic inflammatory demyelinating polyneuropathy: an overview of 10 cases in the modern era.

Ware TL, Kornberg AJ, Rodriguez-Casero MV, Ryan MM.

J Child Neurol. 2014 Jan;29(1):43-8. doi: 10.1177/0883073812471719. Epub 2013 Jan 29.

PMID:
23364655
23.

Symptomatic generalized epilepsy after HHV6 posttransplant acute limbic encephalitis in children.

Howell KB, Tiedemann K, Haeusler G, Mackay MT, Kornberg AJ, Freeman JL, Harvey AS.

Epilepsia. 2012 Jul;53(7):e122-6. doi: 10.1111/j.1528-1167.2012.03494.x. Epub 2012 May 3.

24.

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.

Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC.

Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254.

25.

Autoimmune myasthenia gravis, immunotherapy and thymectomy in children.

Ware TL, Ryan MM, Kornberg AJ.

Neuromuscul Disord. 2012 Feb;22(2):118-21. doi: 10.1016/j.nmd.2011.08.007. Epub 2011 Sep 10.

PMID:
21911294
26.

Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy.

Escolar DM, Hache LP, Clemens PR, Cnaan A, McDonald CM, Viswanathan V, Kornberg AJ, Bertorini TE, Nevo Y, Lotze T, Pestronk A, Ryan MM, Monasterio E, Day JW, Zimmerman A, Arrieta A, Henricson E, Mayhew J, Florence J, Hu F, Connolly AM.

Neurology. 2011 Aug 2;77(5):444-52. doi: 10.1212/WNL.0b013e318227b164. Epub 2011 Jul 13.

27.

Neurophysiologic findings in children presenting with pes cavus.

Mohamed AR, Rodriguez-Casero MV, Kornberg AJ, Ryan MM.

J Peripher Nerv Syst. 2010 Sep;15(3):238-40. doi: 10.1111/j.1529-8027.2010.00272.x. No abstract available.

PMID:
21040146
28.

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.

Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN.

Hum Mutat. 2010 Jul;31(7):E1544-50. doi: 10.1002/humu.21278.

PMID:
20583297
29.

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.

Burns J, Ouvrier RA, Yiu EM, Joseph PD, Kornberg AJ, Fahey MC, Ryan MM.

Lancet Neurol. 2009 Jun;8(6):537-44. doi: 10.1016/S1474-4422(09)70108-5. Epub 2009 May 6.

PMID:
19427269
30.

Ocular myasthenia gravis and Graves disease in a 10-year-old child.

Koves IH, Cameron FJ, Kornberg AJ.

J Child Neurol. 2009 May;24(5):615-7. doi: 10.1177/0883073808324777.

PMID:
19406759
31.

Acute transverse myelitis and acute disseminated encephalomyelitis in childhood: spectrum or separate entities?

Yiu EM, Kornberg AJ, Ryan MM, Coleman LT, Mackay MT.

J Child Neurol. 2009 Mar;24(3):287-96. doi: 10.1177/0883073808323522.

PMID:
19258287
32.

Duchenne muscular dystrophy.

Yiu EM, Kornberg AJ.

Neurol India. 2008 Jul-Sep;56(3):236-47. Review.

33.

Multiple sclerosis in childhood: clinical and radiological features.

Forrester MB, Coleman L, Kornberg AJ.

J Child Neurol. 2009 Jan;24(1):56-62. doi: 10.1177/0883073808321042. Epub 2008 Oct 21.

PMID:
18940915
34.

Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy.

Srinivasan J, Coleman L, Kornberg AJ.

J Paediatr Child Health. 2008 Jul-Aug;44(7-8):459-61. doi: 10.1111/j.1440-1754.2008.01340.x.

PMID:
18638333
35.

Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene.

Yiu EM, Ravat S, Ryan MM, Shield LK, Smith LJ, Kornberg AJ.

Muscle Nerve. 2008 Jul;38(1):930-2. doi: 10.1002/mus.21013.

PMID:
18508340
36.

Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation.

Srinivasan J, Leventer RJ, Kornberg AJ, Dahl HH, Ryan MM.

Pediatr Neurol. 2008 Apr;38(4):293-5. doi: 10.1016/j.pediatrneurol.2007.12.003.

PMID:
18358413
37.

Dietary L-tyrosine supplementation in nemaline myopathy.

Ryan MM, Sy C, Rudge S, Ellaway C, Ketteridge D, Roddick LG, Iannaccone ST, Kornberg AJ, North KN.

J Child Neurol. 2008 Jun;23(6):609-13. Epub 2007 Dec 13.

PMID:
18079309
38.

Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

Baker NL, Mörgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamandé SR.

Ann Neurol. 2007 Oct;62(4):390-405.

PMID:
17886299
39.

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.

40.

Effective detection of corrected dystrophin loci in mdx mouse myogenic precursors.

Todaro M, Quigley A, Kita M, Chin J, Lowes K, Kornberg AJ, Cook MJ, Kapsa R.

Hum Mutat. 2007 Aug;28(8):816-23.

PMID:
17394239
41.

Evaluation of Sca-1 and c-Kit as selective markers for muscle remodelling by nonhemopoietic bone marrow cells.

Wong SH, Lowes KN, Bertoncello I, Quigley AF, Simmons PJ, Cook MJ, Kornberg AJ, Kapsa RM.

Stem Cells. 2007 Jun;25(6):1364-74. Epub 2007 Feb 15.

42.

Retrospective analysis of patients attending a neurofibromatosis type 1 clinic.

Noble F, Kornberg AJ, Elder JE, Delatycki MB.

J Paediatr Child Health. 2007 Jan-Feb;43(1-2):55-9.

PMID:
17207057
43.

Bickerstaff brainstem encephalitis associated with Mycoplasma pneumoniae infection.

Steer AC, Starr M, Kornberg AJ.

J Child Neurol. 2006 Jun;21(6):533-4.

PMID:
16948943
44.

SEPN1: associated with congenital fiber-type disproportion and insulin resistance.

Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN.

Ann Neurol. 2006 Mar;59(3):546-52.

PMID:
16365872
45.

DNA electroporation in vivo targets mature fibres in dystrophic mdx muscle.

Wong SH, Lowes KN, Quigley AF, Marotta R, Kita M, Byrne E, Kornberg AJ, Cook MJ, Kapsa RM.

Neuromuscul Disord. 2005 Oct;15(9-10):630-41.

PMID:
16084723
46.

Subacute inflammatory demyelinating polyneuropathy in children.

Rodriguez-Casero MV, Shield LK, Kornberg AJ.

Neurology. 2005 May 24;64(10):1786-8.

PMID:
15911813
47.

Tiagabine-induced generalised non convulsive status epilepticus in patients with lesional focal epilepsy.

Vinton A, Kornberg AJ, Cowley M, Matkovic Z, Kilpatrick C, O'Brien TJ.

J Clin Neurosci. 2005 Feb;12(2):128-33.

PMID:
15749411
48.

Acute tinnitus and hearing loss as the initial symptom of multiple sclerosis in a child.

Rodriguez-Casero MV, Mandelstam S, Kornberg AJ, Berkowitz RG.

Int J Pediatr Otorhinolaryngol. 2005 Jan;69(1):123-6.

PMID:
15627460
49.

Neuropsychological outcome after acute disseminated encephalomyelitis: impact of age at illness onset.

Jacobs RK, Anderson VA, Neale JL, Shield LK, Kornberg AJ.

Pediatr Neurol. 2004 Sep;31(3):191-7.

PMID:
15351018
50.

Anti-GM1 antibodies: the cause of otherwise unexplained ophthalmoplegias?

Kowal L, Gajus MA, Kornberg AJ.

Clin Exp Ophthalmol. 2004 Aug;32(4):411-4.

PMID:
15281977

Supplemental Content

Loading ...
Support Center