Publications by authors named "John C Mulley"

71Publications

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.

Neurology 2016 Feb 22;86(8):713-22. Epub 2016 Jan 22.

From the Sackler School of Medicine (Z.A., I.B., M.Y.N., T.L.-S., A.D.K.), Tel Aviv University, Ramat Aviv, Israel; Epilepsy Research Centre (K.L.O., K.L.H., I.E.S., S.F.B.), University of Melbourne, Austin Health, Heidelberg, Australia; Epilepsy Unit (S.K., H.G.-S., R.S.), Schneider Children's Medical Center of Israel, Petach Tikvah; Department of Neurology (A.M., M.Y.N.), Tel Aviv Sourasky Medical Center; Department of Neurology (I.B.), The Chaim Sheba Medical Center, Tel Hashomer; Shaare Zedek Medical Center (A.J.M.), Jerusalem; Department of Neurology (S.W.), Western Galilee Hospital, Nahariya; Pediatric Neurology and Child Development Center (M. Mahajnah), Hillel Yaffe Medical Center, Hadera; Ruth and Bruce Rappaport Faculty of Medicine (M. Mahajnah), Technion, Haifa; Pediatric Neurology Unit (T.L.-S.), Wolfson Medical Center, Holon; The Edmond and Lily Safra Children's Hospital (B.B.-Z.), Sheba Medical Center, Ramat Gan; Department of Neurology (E.K.), Barzilai Medical Center, Ashkelon; Faculty of Health Sciences (E.K., R.M., Z.S.), Ben-Gurion University of the Negev, Beer-Sheva; Department of Neurology (R.M.) and Pediatric Neurology Unit (Z.S.), Soroka University Medical Center, Beer-Sheva; Pediatric Neurology Unit (U.K.), Dana Children's Hospital, Tel Aviv; Department of Neurology (D.E.), Agnes Ginges Center of Neurogenetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; School of Biomedical Sciences (R.H.W.), Charles Sturt University, NSW; Queensland Brain Institute (M. Mangelsdorf), University of Queensland, Brisbane, Australia; Wessex Regional Genetics Laboratory (J.N.M.), Salisbury NHS Foundation Trust, Salisbury, UK; Division of Genetic Medicine (G.L.C., H.C.M.), Department of Pediatrics, University of Washington, Seattle; Florey Institute (G.D.J., I.E.S.), Melbourne; Department of Pediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital; Population Health and Immunity Division (M.B.), The Walter and Eliza Hall Institute o

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http://dx.doi.org/10.1212/WNL.0000000000002404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763801PMC
February 2016

Genetics of epilepsy: The testimony of twins in the molecular era.

Neurology 2014 Sep 8;83(12):1042-8. Epub 2014 Aug 8.

From the Epilepsy Research Centre, Department of Medicine (Neurology) (L.V., K.L., J.E., D.K., M.C., Y.T.-B., R.A.H., I.E.S., S.F.B.), University of Melbourne, Austin Health; School of Medicine (L.V.), The University of Queensland, Brisbane; Department of Neurology (L.V.), Royal Brisbane and Women's Hospital; Centre for Molecular, Environmental, Analytic and Genetic Epidemiology (R.L.M., J.L.H.), University of Melbourne; School of Pharmacy and Medical Sciences and Sansom Institute for Health Research (S.E.H., L.M.D.), University of South Australia, Adelaide; and the Department of Genetic Medicine, SA Pathology (J.C.M.), Women's and Children's Hospital, North Adelaide, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000000790DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166361PMC
September 2014

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Pathology 2014 Jan;46(1):41-5

1Cytogenetics, Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide 2Molecular Genetics, Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide 3School of Molecular and Biomedical Sciences, The University of Adelaide 4School of Paediatrics and Reproductive Health, The University of Adelaide 5South Australian Clinical Genetics Service, SA Pathology at Women's and Children's Hospital, North Adelaide 6Centre for Disability Health, North East Clinic, Modbury Hospital, Adelaide 7Ashford Medical Centre, Ashford, Adelaide 8Flinders Medical Centre, Bedford Park 9Calvary Hospital, North Adelaide 10Women's and Children's Health Network, North Adelaide 11Parks Community Health Service, Angle Park, South Australia, Australia 12see Acknowledgements for all members.

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http://linkinghub.elsevier.com/retrieve/pii/S003130251630641
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http://dx.doi.org/10.1097/PAT.0000000000000043DOI Listing
January 2014

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

Epilepsia 2013 Sep 29;54(9):e122-6. Epub 2013 Jul 29.

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/epi.12323DOI Listing
September 2013

Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Am J Med Genet B Neuropsychiatr Genet 2013 Jan 26;162B(1):24-35. Epub 2012 Nov 26.

Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.b.32114DOI Listing
January 2013

Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum.

Epilepsia 2012 Aug 10;53(8):e151-5. Epub 2012 Jul 10.

Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

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http://doi.wiley.com/10.1111/j.1528-1167.2012.03585.x
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http://dx.doi.org/10.1111/j.1528-1167.2012.03585.xDOI Listing
August 2012

Rare protein sequence variation in SV2A gene does not affect response to levetiracetam.

Epilepsy Res 2012 Sep 30;101(3):277-9. Epub 2012 Apr 30.

Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S09201211120010
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http://dx.doi.org/10.1016/j.eplepsyres.2012.04.007DOI Listing
September 2012

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures.

Neurol Res Int 2011 16;2011:917565. Epub 2011 Jul 16.

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, SA 5006, Australia.

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http://www.hindawi.com/journals/nri/aip/917565.pdf
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http://www.hindawi.com/journals/nri/2011/917565/
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http://dx.doi.org/10.1155/2011/917565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139179PMC
November 2011

Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes.

Epilepsia 2011 Oct 21;52(10):e139-42. Epub 2011 Jul 21.

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03188.xDOI Listing
October 2011

Proposed genetic classification of the "benign" familial neonatal and infantile epilepsies.

Epilepsia 2011 Mar;52(3):649-50

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02953.xDOI Listing
March 2011

Epilepsy and the new cytogenetics.

Epilepsia 2011 Mar 26;52(3):423-32. Epub 2011 Jan 26.

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02932.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3079368PMC
March 2011

Genetic variations and associated pathophysiology in the management of epilepsy.

Appl Clin Genet 2011 8;4:113-25. Epub 2011 Aug 8.

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, Australia ; School of Paediatrics and Reproductive Health, and School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, Australia.

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http://dx.doi.org/10.2147/TACG.S7407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681183PMC
June 2013

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.

J Med Genet 2011 Jan 23;48(1):1-9. Epub 2010 Oct 23.

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, 19104, USA.

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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2010.080382
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http://dx.doi.org/10.1136/jmg.2010.080382DOI Listing
January 2011

Genetically complex epilepsies, copy number variants and syndrome constellations.

Genome Med 2010 Oct 5;2(10):71. Epub 2010 Oct 5.

Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 356320, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1186/gm192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2988446PMC
October 2010

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study.

Epileptic Disord 2010 Sep 19;12(3):192-8. Epub 2010 Jul 19.

Department of Medicine, University of Melbourne, Australia.

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http://dx.doi.org/10.1684/epd.2010.0326DOI Listing
September 2010

Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study.

Lancet Neurol 2010 Jun 4;9(6):592-8. Epub 2010 May 4.

Epilepsy Research Centre and Department of Medicine (Neurology), University of Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1016/S1474-4422(10)70107-1DOI Listing
June 2010

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.

Epilepsia 2010 Sep;51(9):1865-9

SA Pathology at Women's and Children's Hospital, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02558.xDOI Listing
September 2010

Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?

Epilepsia 2010 Feb 27;51(2):293-6. Epub 2009 Oct 27.

SA Pathology at Women's and Children's Hospital, North Adelaide, SA, Australia.

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http://doi.wiley.com/10.1111/j.1528-1167.2009.02317.x
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http://dx.doi.org/10.1111/j.1528-1167.2009.02317.xDOI Listing
February 2010

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.

J Med Genet 2010 Feb 8;47(2):137-41. Epub 2009 Jul 8.

Epilepsy Program, SA Pathology at Women's and Children's Hospital, North Adelaide , South Australia SA 5006, Australia.

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http://dx.doi.org/10.1136/jmg.2008.065912DOI Listing
February 2010

Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way.

Genome Med 2009 Mar 25;1(3):33. Epub 2009 Mar 25.

Epilepsy Research Program, Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia.

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http://dx.doi.org/10.1186/gm33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664944PMC
March 2009

Forty years from markers to genes.

Authors:
John C Mulley

Twin Res Hum Genet 2008 Aug;11(4):368-83

Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, Australia.

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http://www.journals.cambridge.org/abstract_S1832427400009191
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http://dx.doi.org/10.1375/twin.11.4.368DOI Listing
August 2008

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.

Epilepsia 2008 Dec 9;49(12):2125-9. Epub 2008 May 9.

Department of Medicine (Neurology), Epilepsy Research Centre, University of Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01652.xDOI Listing
December 2008

Gene expression analysis in absence epilepsy using a monozygotic twin design.

Epilepsia 2008 Sep 24;49(9):1546-54. Epub 2008 Apr 24.

Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01630.xDOI Listing
September 2008

Navigating the channels and beyond: unravelling the genetics of the epilepsies.

Lancet Neurol 2008 Mar;7(3):231-45

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Australia.

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http://dx.doi.org/10.1016/S1474-4422(08)70039-5DOI Listing
March 2008

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.

Ann Neurol 2007 Dec;62(6):560-8

Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide South Australia, Australia.

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http://dx.doi.org/10.1002/ana.21169DOI Listing
December 2007

A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.

Mol Cell Neurosci 2007 Jun 13;35(2):292-301. Epub 2007 Mar 13.

Howard Florey Institute, The University of Melbourne, Parkville, Victoria, 3010, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.mcn.2007.03.003DOI Listing
June 2007

Association studies and functional validation or functional validation alone?

Epilepsy Res 2007 May 11;74(2-3):237-8. Epub 2007 Apr 11.

Department of Genetic Medicine, Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2007.03.003DOI Listing
May 2007

Channelopathies in idiopathic epilepsy.

Neurotherapeutics 2007 Apr;4(2):295-304

Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia 5006.

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http://www.neuro.it/documents/materiale%20didattico_Siena_20
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http://link.springer.com/10.1016/j.nurt.2007.01.009
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http://dx.doi.org/10.1016/j.nurt.2007.01.009DOI Listing
April 2007

SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.

Epilepsia 2007 Jun 26;48(6):1138-42. Epub 2007 Mar 26.

Department of Woman and Child Health, Astrid Lindgren's Children's Hospital, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01049.xDOI Listing
June 2007

Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell lines.

Hum Mol Genet 2007 Feb 12;16(4):364-73. Epub 2006 Dec 12.

Genetic Epidemiology Group, Queensland Institute of Medical Research, Herston, QLD 4029, Australia.

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http://dx.doi.org/10.1093/hmg/ddl456DOI Listing
February 2007

Human epilepsies: interaction of genetic and acquired factors.

Trends Neurosci 2006 Jul;29(7):391-397

Howard Florey Institute of Experimental Physiology and Medicine, University of Melbourne, Parkville, VIC 3010, Australia.

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http://dx.doi.org/10.1016/j.tins.2006.05.009DOI Listing
July 2006

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

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

Epilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia.

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http://dx.doi.org/10.1016/S1474-4422(06)70446-XDOI Listing
June 2006

Genetic dissection of the common epilepsies.

Curr Opin Neurol 2006 Apr;19(2):157-63

Department of Neurology, National Neuroscience Institute, Singapore.

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http://dx.doi.org/10.1097/01.wco.0000218232.66054.46DOI Listing
April 2006

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

Epilepsia 2005 ;46 Suppl 10:41-7

Department of Medicine (Neurology), The University of Melbourne, Austin Health, Melbourne, Victoria.

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http://dx.doi.org/10.1111/j.1528-1167.2005.00358.xDOI Listing
January 2006

Susceptibility genes for complex epilepsy.

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

Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://academic.oup.com/hmg/article/14/suppl_2/R243/663294/S
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http://dx.doi.org/10.1093/hmg/ddi355DOI Listing
October 2005

SCN1A mutations and epilepsy.

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

Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/humu.20178DOI Listing
June 2005

Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?

Epilepsia 2005 May;46(5):778-80

Epilepsy Research Centre and Department of Medicine (Neurology), University of Melbourne, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2005.49004.xDOI Listing
May 2005

A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping.

Brain 2005 Mar 5;128(Pt 3):652-8. Epub 2005 Jan 5.

Epilepsy Research Centre and Department of Medicine (Neurology), University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia.

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http://dx.doi.org/10.1093/brain/awh377DOI Listing
March 2005

Genetic association studies in epilepsy: "the truth is out there".

Epilepsia 2004 Nov;45(11):1429-42

Epilepsy Research Centre and Department of Medicine (Neurology), University of Melbourne, Australia.

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http://dx.doi.org/10.1111/j.0013-9580.2004.22904.xDOI Listing
November 2004

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

J Hum Genet 2004 18;49(6):308-311. Epub 2004 May 18.

Department of Medicine, Breast Cancer Genetics Group, Hanson Institute (North Building), Institute of Medical and Veterinary Science, University of Adelaide, P.O. Box 14, Rundle Mall, Adelaide, South Australia, 5000, Australia.

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http://www.nature.com/doifinder/10.1007/s10038-004-0145-4
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http://dx.doi.org/10.1007/s10038-004-0145-4DOI Listing
July 2004

X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.

Am J Med Genet A 2003 Aug;120A(4):509-17

Centre for Medical Genetics, Department of Laboratory Genetics, Women's and Children's Hospital, Adelaide, Australia.

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http://dx.doi.org/10.1002/ajmg.a.20131DOI Listing
August 2003

Channelopathies as a genetic cause of epilepsy.

Curr Opin Neurol 2003 Apr;16(2):171-6

Centre for Medical Genetics, Department of Laboratory Genetics, Women's and Children's Hospital, 72 King William Road, North Adelaide 5006, South Australia.

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http://dx.doi.org/10.1097/01.wco.0000063767.15877.c7DOI Listing
April 2003

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

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

Epilepsy Research Institute, The University of Melbourne, Austin and Repatriation Medical Centre, West Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1093/brain/awg018DOI Listing
January 2003

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

Nat Genet 2002 Dec 4;32(4):661-5. Epub 2002 Nov 4.

Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital, 72 King William Rd., North Adelaide, SA 5006, Australia.

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http://www.nature.com/articles/ng1040
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http://dx.doi.org/10.1038/ng1040DOI Listing
December 2002

Sodium-channel defects in benign familial neonatal-infantile seizures.

Lancet 2002 Sep;360(9336):851-2

Department of Laboratory Genetics, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1016/S0140-6736(02)09968-3DOI Listing
September 2002

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Nat Genet 2002 Apr 11;30(4):441-5. Epub 2002 Mar 11.

Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia.

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http://dx.doi.org/10.1038/ng862DOI Listing
April 2002

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

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

Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1086/338710DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC384926PMC
February 2002