Susan Treves

Susan Treves

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Susan Treves

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Extraocular muscle function is impaired in mice.

J Gen Physiol 2019 Jul 13;151(7):929-943. Epub 2019 May 13.

Department of Anesthesia, Basel University Hospital, Basel, Switzerland

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http://dx.doi.org/10.1085/jgp.201912333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6605690PMC
July 2019

Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.

Hum Mol Genet 2019 Jun;28(11):1872-1884

Departments of Anaesthesia and Biomedicine, Basel University Hospital, Hebelstrasse, Basel, Switzerland.

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http://dx.doi.org/10.1093/hmg/ddz025DOI Listing
June 2019

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.

Hum Mol Genet 2019 May;28(10):1579-1593

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm, CNRS, Université de Strasbourg, Illkirch, France.

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http://dx.doi.org/10.1093/hmg/ddy446DOI Listing
May 2019

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Nat Rev Neurol 2018 03 2;14(3):151-167. Epub 2018 Feb 2.

The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1038/nrneurol.2017.191DOI Listing
March 2018

Atypical periodic paralysis and myalgia: A novel phenotype.

Neurology 2018 01 3;90(5):e412-e418. Epub 2018 Jan 3.

From the MRC Centre for Neuromuscular Diseases (E.M., F.J., R.S.S., D.F., M.P., D.R.R., K.S., H.H., E.H., R.Q., J.L.H., M.G.H.), Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Neuromuscular Diseases Unit/ALS Clinic (C.N.), Kantonsspital St. Gallen, Switzerland; Neurogenetics Unit (R.S., H.H.) and Department of Neuropathology (J.L.H.), National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Human Genetics Laboratory Genetica (R.S.), Zurich, Switzerland; Genetics Department (R.M.), Viapath, Guy's Hospital, London; Wellcome Trust Centre for Mitochondrial Research (A.S.), University of Newcastle, Framlington Place, Newcastle Upon Tyne, UK; Institute of Pathology (E.H.), Belfast Health and Social Care Trust, Northern Ireland; Department of Neurology (J.P.), John Radcliffe Hospital, Oxford, UK; Departments of Biomedicine and Anesthesia (S.T.), Basel University Hospital, Switzerland; Department of Life Sciences (S.T.), Microbiology and Applied Pathology Section, University of Ferrara, Italy; Department of Paediatric Neurology (H.J.), Neuromuscular Service, Evelina Children's Hospital, St. Thomas' Hospital; and Department of Basic and Clinical Neuroscience (H.J.), Institute of Psychiatry, Psychology and Neuroscience, and Randall Division of Cell and Molecular Biophysics (H.J.), Muscle Signalling Section, King's College, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791790PMC
January 2018

Ca handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

Semin Cell Dev Biol 2017 04 15;64:201-212. Epub 2016 Jul 15.

Departments of Biomedicine and Anesthesia, Basel University Hospital, 4031 Basel, Switzerland; Department of Life Sciences, General Pathology Section, University of Ferrara, 44100 Ferrara, Italy.

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http://dx.doi.org/10.1016/j.semcdb.2016.07.017DOI Listing
April 2017

Current and future therapeutic approaches to the congenital myopathies.

Semin Cell Dev Biol 2017 04 8;64:191-200. Epub 2016 Aug 8.

Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section Biophysics and Cardiovascular Division, King's College BHF Centre of Research Excellence, United Kingdom.

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http://dx.doi.org/10.1016/j.semcdb.2016.08.004DOI Listing
April 2017

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

Hum Mol Genet 2017 01;26(2):320-332

Departments of Biomedicine and Anesthesia, Basel University Hospital, Basel University, Basel, Switzerland.

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http://dx.doi.org/10.1093/hmg/ddw388DOI Listing
January 2017

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

BMJ Open Sport Exerc Med 2016 7;2(1):e000151. Epub 2016 Sep 7.

Department of Neurology , Radboud University Medical Centre , Nijmegen , The Netherlands.

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http://bmjopensem.bmj.com/lookup/doi/10.1136/bmjsem-2016-000
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http://dx.doi.org/10.1136/bmjsem-2016-000151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117086PMC
September 2016

Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles.

J Biol Chem 2016 Jul 4;291(28):14555-65. Epub 2016 May 4.

From the Departments of Anaesthesia and Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland, Department of Life Science and Biotechnology, University of Ferrara, Via Borsari 46, 44100, Ferrara, Italy

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http://dx.doi.org/10.1074/jbc.M115.709071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938177PMC
July 2016

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

Sci Signal 2016 07 5;9(435):ra68. Epub 2016 Jul 5.

Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, St Thomas' Hospital, London SE1 7EH, UK. Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London SE1 1UL, UK. Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London SE5 9RX, UK.

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http://dx.doi.org/10.1126/scisignal.aad9813DOI Listing
July 2016

Functional characterization of orbicularis oculi and extraocular muscles.

J Gen Physiol 2016 05 11;147(5):395-406. Epub 2016 Apr 11.

Department of Anesthesia, Basel University Hospital, 4031 Basel, Switzerland Department of Biomedicine, Basel University Hospital, 4031 Basel, Switzerland Department of Life Sciences and Biotechnology, General Pathology Section, University of Ferrara, 44100 Ferrara, Italy

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http://dx.doi.org/10.1085/jgp.201511542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845688PMC
May 2016

Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia.

Neuromuscul Disord 2016 Jan 11;26(1):21-5. Epub 2015 Nov 11.

Department of Anaesthesia and Critical Care, University of Wuerzburg, Oberduerrbacher Str. 6, 97080 Wuerzburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.11.001DOI Listing
January 2016

The metabolomic profile of gamma-irradiated human hepatoma and muscle cells reveals metabolic changes consistent with the Warburg effect.

PeerJ 2016 26;4:e1624. Epub 2016 Jan 26.

Hepatology Research Group, Department of Clinical Research, University of Bern , Bern , Switzerland.

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http://dx.doi.org/10.7717/peerj.1624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4730869PMC
January 2016

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.

Hum Mol Genet 2015 Aug 27;24(16):4636-47. Epub 2015 May 27.

Department of Biomedicine and Anesthesia, Basel University Hospital, Basel, Switzerland, Department of Life Sciences, General Pathology Section, University of Ferrara, Ferrara, Italy,

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http://dx.doi.org/10.1093/hmg/ddv195DOI Listing
August 2015

Characterization of excitation-contraction coupling components in human extraocular muscles.

Biochem J 2015 Feb;466(1):29-36

*Departments of Anesthesia and Biomedizin, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.

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http://dx.doi.org/10.1042/BJ20140970DOI Listing
February 2015

Gain of function in the immune system caused by a ryanodine receptor 1 mutation.

J Cell Sci 2013 Aug 23;126(Pt 15):3485-92. Epub 2013 May 23.

Departments of Anaesthesia and Biomedicine, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.

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http://dx.doi.org/10.1242/jcs.130310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3730249PMC
August 2013

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

Hum Mutat 2013 Jul 17;34(7):986-96. Epub 2013 Apr 17.

Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1002/humu.22326DOI Listing
July 2013

Ectosomes of polymorphonuclear neutrophils activate multiple signaling pathways in macrophages.

Immunobiology 2013 Mar 6;218(3):382-92. Epub 2012 Jun 6.

Immunonephrology Laboratory, Departments of Biomedicine and Medicine, University Hospital Basel, Basel, Switzerland.

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http://dx.doi.org/10.1016/j.imbio.2012.05.021DOI Listing
March 2013

Mapping domains and mutations on the skeletal muscle ryanodine receptor channel.

Trends Mol Med 2012 Nov 12;18(11):644-57. Epub 2012 Oct 12.

Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, 2145, Australia.

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http://dx.doi.org/10.1016/j.molmed.2012.09.006DOI Listing
November 2012

Endogenously determined restriction of food intake overcomes excitation-contraction uncoupling in JP45KO mice with aging.

Exp Gerontol 2012 Apr 25;47(4):304-16. Epub 2012 Jan 25.

Department of Internal Medicine, Section on Gerontology and Geriatric Medicine, Wake Forest University School of Medicine, Winston-Salem, NC 27157, United States.

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http://dx.doi.org/10.1016/j.exger.2012.01.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3307889PMC
April 2012

Remodeling of calcium handling in skeletal muscle through PGC-1α: impact on force, fatigability, and fiber type.

Am J Physiol Cell Physiol 2012 Jan 14;302(1):C88-99. Epub 2011 Sep 14.

Biozentrum, Department of Pharmacology/Neurobiology, University of Basel, Basel, Switzerland.

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http://www.physiology.org/doi/10.1152/ajpcell.00190.2011
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http://dx.doi.org/10.1152/ajpcell.00190.2011DOI Listing
January 2012

Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis.

Anesth Analg 2011 Nov 30;113(5):1120-8. Epub 2011 Sep 30.

Department of Anaesthesiology and Intensive Care, VO Perioperativ och Intensivvård, Skåne University Hospital Lund, 205 02 Malmö, Sweden.

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http://dx.doi.org/10.1213/ANE.0b013e318228293eDOI Listing
November 2011

Frequent calcium oscillations lead to NFAT activation in human immature dendritic cells.

J Biol Chem 2010 May 26;285(21):16003-11. Epub 2010 Mar 26.

Departments of Anaesthesia and Biomedicine, Basel University Hospital, Basel 4031, Switzerland.

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http://dx.doi.org/10.1074/jbc.M109.066704DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2871469PMC
May 2010

Minor sarcoplasmic reticulum membrane components that modulate excitation-contraction coupling in striated muscles.

J Physiol 2009 Jul 29;587(Pt 13):3071-9. Epub 2009 Apr 29.

Departments of Anesthesia and Biomedicine, Basel University Hospital, Switzerland.

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http://dx.doi.org/10.1113/jphysiol.2009.171876DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2727015PMC
July 2009

Increasing the number of diagnostic mutations in malignant hyperthermia.

Hum Mutat 2009 Apr;30(4):590-8

Department of Biomedicine, University Hospital Basel, Basel, Switzerland.

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http://doi.wiley.com/10.1002/humu.20878
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http://dx.doi.org/10.1002/humu.20878DOI Listing
April 2009

A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.

Cell Calcium 2009 Feb 21;45(2):192-7. Epub 2008 Nov 21.

Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC 27599-7260, USA.

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http://dx.doi.org/10.1016/j.ceca.2008.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2662321PMC
February 2009

Upstream stimulatory factors are involved in the P1 promoter directed transcription of the A beta H-J-J locus.

BMC Mol Biol 2008 Dec 16;9:110. Epub 2008 Dec 16.

Department of Biochemistry and Molecular Biology, Molecular Biology Section, University of Ferrara, Via Fossato di Mortara 74, 44100 Ferrara, Italy.

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http://bmcmolbiol.biomedcentral.com/articles/10.1186/1471-21
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http://dx.doi.org/10.1186/1471-2199-9-110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2625362PMC
December 2008

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.

Curr Opin Pharmacol 2008 Jun 4;8(3):319-26. Epub 2008 Mar 4.

Dipartimento di Medicina Sperimentale e Diagnostica, Universita' di Ferrara, 44100 Ferrara, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S147148920800006
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http://dx.doi.org/10.1016/j.coph.2008.01.005DOI Listing
June 2008

SRP-27 is a novel component of the supramolecular signalling complex involved in skeletal muscle excitation-contraction coupling.

Biochem J 2008 Apr;411(2):343-9

Department of Experimental and Diagnostic Medicine, General Pathology section, University of Ferrara, Via Borsari 46, 44100 Ferrara, Italy.

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http://biochemj.org/lookup/doi/10.1042/BJ20070906
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http://dx.doi.org/10.1042/BJ20070906DOI Listing
April 2008

Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45.

Proc Natl Acad Sci U S A 2007 Dec 5;104(50):20108-13. Epub 2007 Dec 5.

Departments of Anaesthesia and Research, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.

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http://dx.doi.org/10.1073/pnas.0707389104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2148430PMC
December 2007

Activation of endoplasmic reticulum stress response by hepatitis viruses up-regulates protein phosphatase 2A.

Hepatology 2007 Aug;46(2):558-65

Department of Research, University Hospital Basel, Basel, Switzerland.

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http://doi.wiley.com/10.1002/hep.21611
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http://dx.doi.org/10.1002/hep.21611DOI Listing
August 2007

Calumin, a novel Ca2+-binding transmembrane protein on the endoplasmic reticulum.

Cell Calcium 2007 Jul 3;42(1):83-90. Epub 2007 Jan 3.

Department of Biological Chemistry, Graduate School of Pharmaceutical Sciences, Kyoto University, Kyoto 606-8501, Japan.

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http://dx.doi.org/10.1016/j.ceca.2006.11.009DOI Listing
July 2007

Ca2+ signaling through ryanodine receptor 1 enhances maturation and activation of human dendritic cells.

J Cell Sci 2007 Jul 13;120(Pt 13):2232-40. Epub 2007 Jun 13.

Institute of Surgical Research, Basel University Hospital, Hebelstrasse 20, 4031 Basel, Switzerland.

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http://dx.doi.org/10.1242/jcs.007203DOI Listing
July 2007

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.

Neuromuscul Disord 2007 Apr 21;17(4):338-45. Epub 2007 Mar 21.

Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660700021
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http://dx.doi.org/10.1016/j.nmd.2007.01.016DOI Listing
April 2007

Functional effects of mutations identified in patients with multiminicore disease.

IUBMB Life 2007 Jan;59(1):14-20

Dipartimento di Medicina Sperimentale e Diagnostica, Universita' di Ferrara. Ferrara. Italy.

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http://dx.doi.org/10.1080/15216540601187803DOI Listing
January 2007

Multiple levels of control of the expression of the human A beta H-J-J locus encoding aspartyl-beta-hydroxylase, junctin, and junctate.

Ann N Y Acad Sci 2006 Dec;1091:184-90

Department of Biochemistry and Molecular Biology, Section of Molecular Biology, Via Fossato di Mortara 74, 44100 Ferrara, Italy.

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http://doi.wiley.com/10.1196/annals.1378.065
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http://dx.doi.org/10.1196/annals.1378.065DOI Listing
December 2006

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

Neuromuscul Disord 2005 Oct;15(9-10):577-87

Dipartimento di Medicina Sperimentale e Diagnostica, sezione Patologia Generale, Università degli Studi di Ferrara, Via Borsari 46, 44100 Ferrara, Italy.

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http://dx.doi.org/10.1016/j.nmd.2005.06.008DOI Listing
October 2005

Junctate, an inositol 1,4,5-triphosphate receptor associated protein, is present in rodent sperm and binds TRPC2 and TRPC5 but not TRPC1 channels.

Dev Biol 2005 Oct;286(1):326-37

CEA/Grenoble, Laboratoire Canaux Calciques, Fonctions et Pathologies, Unité mixte INSERM U607, 17 rue des martyrs, F-38054 Grenoble Cedex 9, France.

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http://dx.doi.org/10.1016/j.ydbio.2005.08.006DOI Listing
October 2005

Molecular genetic testing for malignant hyperthermia susceptibility.

Anesthesiology 2004 May;100(5):1076-80

Kantonsspital, University of Basel, 4031 Basel, Switzerland.

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http://dx.doi.org/10.1097/00000542-200405000-00008DOI Listing
May 2004

Ryanodine receptor antibodies in myasthenia gravis: epitope mapping and effect on calcium release in vitro.

Muscle Nerve 2003 Jan;27(1):81-9

Department of Neurology, University of Bergen, N-5021 Bergen, Norway.

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http://dx.doi.org/10.1002/mus.10294DOI Listing
January 2003