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Items: 24

1.

Optical coherence tomography findings in a patient with type 1 sialidosis.

Kersten HM, Roxburgh RH, Danesh-Meyer HV, Hutchinson DO.

J Clin Neurosci. 2016 Sep;31:199-201. doi: 10.1016/j.jocn.2016.02.015. Epub 2016 Apr 1.

PMID:
27052257
2.

Congestive myeloradiculopathy in a patient with Cowden syndrome.

Wu TY, Willoughby E, Hutchinson DO, Brew S, McGuinness B, Lopes R, Love DR, Roxburgh RH.

J Clin Neurosci. 2015 Feb;22(2):431-3. doi: 10.1016/j.jocn.2014.07.023. Epub 2014 Oct 7.

PMID:
25304432
3.

Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome.

Wu TY, Taylor JM, Kilfoyle DH, Smith AD, McGuinness BJ, Simpson MP, Walker EB, Bergin PS, Cleland JC, Hutchinson DO, Anderson NE, Snow BJ, Anderson TJ, Paermentier LA, Cutfield NJ, Chancellor AM, Mossman SS, Roxburgh RH.

Brain. 2014 Oct;137(Pt 10):2649-56. doi: 10.1093/brain/awu196. Epub 2014 Jul 28. Erratum in: Brain. 2015 Feb;138(Pt 2):e329.

PMID:
25070514
4.

HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.

Rahman MA, Masuda A, Ohe K, Ito M, Hutchinson DO, Mayeda A, Engel AG, Ohno K.

Sci Rep. 2013 Oct 14;3:2931. doi: 10.1038/srep02931.

5.

Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease).

Miteff F, Potter HC, Allen J, Teoh H, Roxburgh R, Hutchinson DO.

J Clin Neurosci. 2011 Aug;18(8):1055-8. doi: 10.1016/j.jocn.2010.12.033. Epub 2011 Jun 11.

PMID:
21658951
6.

Two-dimensional gel electrophoresis in inclusion body myositis.

Hutchinson DO, Jongbloed B.

J Clin Neurosci. 2008 Apr;15(4):440-4. doi: 10.1016/j.jocn.2007.03.006. Epub 2008 Feb 6.

PMID:
18258434
7.

Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.

Domazetovska A, Ilkovski B, Kumar V, Valova VA, Vandebrouck A, Hutchinson DO, Robinson PJ, Cooper ST, Sparrow JC, Peckham M, North KN.

Ann Neurol. 2007 Dec;62(6):597-608.

PMID:
17705262
8.

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.

Hutchinson DO, Charlton A, Laing NG, Ilkovski B, North KN.

Neuromuscul Disord. 2006 Feb;16(2):113-21. Epub 2006 Jan 19.

PMID:
16427282
9.

Bilateral brachial plexopathy following laparoscopic bariatric surgery.

Brunette KE, Hutchinson DO, Ismail H.

Anaesth Intensive Care. 2005 Dec;33(6):812-5. Review.

10.

Subacute measles encephalitis in an immunocompetent adult.

Croxson MC, Anderson NE, Vaughan AA, Hutchinson DO, Schroeder BA, Cluroe AD, Hyatt AD.

J Clin Neurosci. 2002 Sep;9(5):600-4.

PMID:
12383429
11.

Presentation of intravascular lymphomatosis as lumbosacral polyradiculopathy.

Viali S, Hutchinson DO, Hawkins TE, Croxson MC, Thomas M, Allen JP, Thomas SM, Powell KH.

Muscle Nerve. 2000 Aug;23(8):1295-300.

PMID:
10918273
12.

A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.

Brown RL, Pollock AN, Couchman KG, Hodges M, Hutchinson DO, Waaka R, Lynch P, McCarthy TV, Stowell KM.

Hum Mol Genet. 2000 Jun 12;9(10):1515-24.

PMID:
10888602
13.
14.

Intestinal pseudo-obstruction, myasthenia gravis, and thymoma.

Anderson NE, Hutchinson DO, Nicholson GJ, Aitcheson F, Nixon JM.

Neurology. 1996 Oct;47(4):985-7.

PMID:
8857731
15.

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.

Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM.

Hum Mol Genet. 1996 Sep;5(9):1217-27.

PMID:
8872460
16.

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM, Engel AG.

Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):758-62.

17.

Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate.

Milone M, Hutchinson DO, Engel AG.

Muscle Nerve. 1994 Dec;17(12):1364-9.

PMID:
7526207
18.

The spectrum of congenital end-plate acetylcholinesterase deficiency.

Hutchinson DO, Engel AG, Walls TJ, Nakano S, Camp S, Taylor P, Harper CM, Brengman JM.

Ann N Y Acad Sci. 1993 Jun 21;681:469-86. No abstract available.

PMID:
8395162
19.

Myasthenic syndromes attributed to mutations affecting the epsilon subunit of the acetylcholine receptor.

Engel AG, Hutchinson DO, Nakano S, Murphy L, Griggs RC, Gu Y, Hall ZW, Lindstrom J.

Ann N Y Acad Sci. 1993 Jun 21;681:496-508. No abstract available.

PMID:
8357190
20.

Congenital endplate acetylcholinesterase deficiency.

Hutchinson DO, Walls TJ, Nakano S, Camp S, Taylor P, Harper CM, Groover RV, Peterson HA, Jamieson DG, Engel AG.

Brain. 1993 Jun;116 ( Pt 3):633-53.

PMID:
8390325
21.

A comparison between electroencephalography and somatosensory evoked potentials for outcome prediction following severe head injury.

Hutchinson DO, Frith RW, Shaw NA, Judson JA, Cant BR.

Electroencephalogr Clin Neurophysiol. 1991 Mar;78(3):228-33.

PMID:
1707795
22.

Cryptococcal meningitis in Auckland 1969-89.

Hutchinson DO, Anderson NE, Ingram RJ, Thomas MG, Ellis-Pegler RB, Bremner DA, Parr DH.

N Z Med J. 1991 Feb 27;104(906):57-9.

PMID:
2020443
23.

Ophthalmoplegic migraine with bilateral involvement.

Hutchinson DO, Donaldson IM.

J Neurol Neurosurg Psychiatry. 1989 Jun;52(6):807-8. No abstract available.

24.

Pituitary apoplexy.

Hutchinson DO, Avery SF.

N Z Med J. 1989 Apr 12;102(865):158-60.

PMID:
2704461

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