Publications by authors named "Nutan Sharma"

66Publications

Progressive Decline in Voice and Voice-Related Quality of Life in X-Linked Dystonia Parkinsonism.

J Voice 2020 Dec 14. Epub 2020 Dec 14.

Department of Otolaryngology, Massachusetts Eye and Ear, Boston, Massachusetts; Department of Otolaryngology, Harvard Medical School, Boston, Massachusetts.

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December 2020

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors:
Laura Cif Diane Demailly Jean-Pierre Lin Katy E Barwick Mario Sa Lucia Abela Sony Malhotra Wui K Chong Dora Steel Alba Sanchis-Juan Adeline Ngoh Natalie Trump Esther Meyer Xavier Vasques Julia Rankin Meredith W Allain Carolyn D Applegate Sanaz Attaripour Isfahani Julien Baleine Bettina Balint Jennifer A Bassetti Emma L Baple Kailash P Bhatia Catherine Blanchet Lydie Burglen Gilles Cambonie Emilie Chan Seng Sandra Chantot Bastaraud Fabienne Cyprien Christine Coubes Vincent d'Hardemare Asif Doja Nathalie Dorison Diane Doummar Marisela E Dy-Hollins Ellyn Farrelly David R Fitzpatrick Conor Fearon Elizabeth L Fieg Brent L Fogel Eva B Forman Rachel G Fox William A Gahl Serena Galosi Victoria Gonzalez Tracey D Graves Allison Gregory Mark Hallett Harutomo Hasegawa Susan J Hayflick Ada Hamosh Marie Hully Sandra Jansen Suh Young Jeong Joel B Krier Sidney Krystal Kishore R Kumar Chloé Laurencin Hane Lee Gaetan Lesca Laurence Lion François Timothy Lynch Neil Mahant Julian A Martinez-Agosto Christophe Milesi Kelly A Mills Michel Mondain Hugo Morales-Briceno John R Ostergaard Swasti Pal Juan C Pallais Frédérique Pavillard Pierre-Francois Perrigault Andrea K Petersen Gustavo Polo Gaetan Poulen Tuula Rinne Thomas Roujeau Caleb Rogers Agathe Roubertie Michelle Sahagian Elise Schaefer Laila Selim Richard Selway Nutan Sharma Rebecca Signer Ariane G Soldatos David A Stevenson Fiona Stewart Michel Tchan Ishwar C Verma Bert B A de Vries Jenny L Wilson Derek A Wong Raghda Zaitoun Dolly Zhen Anna Znaczko Russell C Dale Claudio M de Gusmão Jennifer Friedman Victor S C Fung Mary D King Shekeeb S Mohammad Luis Rohena Jeff L Waugh Camilo Toro F Lucy Raymond Maya Topf Philippe Coubes Kathleen M Gorman Manju A Kurian

Brain 2020 Dec;143(11):3242-3261

Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.

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December 2020

Dystonia 16 (DYT16) mutations in PACT cause dysregulated PKR activation and eIF2α signaling leading to a compromised stress response.

Neurobiol Dis 2020 Dec 10;146:105135. Epub 2020 Oct 10.

University of South Carolina, Columbia, SC 29208, USA. Electronic address:

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December 2020

Editorial: Advances in rare movement disorders.

Authors:
Nutan Sharma

Curr Opin Neurol 2020 08;33(4):498-499

Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts, USA.

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August 2020

Advances in rare movement disorders.

Authors:
Nutan Sharma

Curr Opin Neurol 2020 Jun 8. Epub 2020 Jun 8.

Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts, USA.

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June 2020

Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell Function.

Mol Ther Nucleic Acids 2020 Sep 15;21:1-12. Epub 2020 May 15.

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

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September 2020

Phasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in X-Linked Dystonia Parkinsonism.

Mov Disord Clin Pract 2020 May 26;7(4):448-452. Epub 2020 Mar 26.

Dystonia Clinic and Movement Disorders Unit Department of Neurology, Massachusetts General Hospital and Harvard Medical School Boston MA USA.

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May 2020

Defining research priorities in dystonia.

Neurology 2020 03 25;94(12):526-537. Epub 2020 Feb 25.

From the Division of Clinical Research (C.L.), National Institute of Neurological Disorders and Stroke, National Institutes of Health; Harvard Medical School (L.O., N.S.), Massachusetts General Hospital, Boston, MA; University of Alabama, Birmingham (D.S.), Birmingham, AL; Medical Neurology Branch (M.H.), NINDS, NIH, Bethesda, MD; Division of Neuroscience (B.-A.S., C.S.-F.), NINDS, NIH, Bethesda, MD; Department of Neurology (B.D.B.), University of Colorado Denver, Aurora, CO; Duke University School of Medicine, Durham, NC; RUCDR/Infinite Biologics (J.C.M.), Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ; Washington University School of Medicine (J.S.P.), St Louis, MO; Department of Neurology (S.E.P.R.), University of New Mexico Health Sciences Center, Albuquerque, NM; Department of Neurology (R.S.-P.), Icahn School of Medicine at Mount Sinai, New York, NY; Coriell Institute for Medical Research (L.S.), Camden, NJ; Department of Neuroscience (R.S.), Baylor College of Medicine, Houston, TX; Harvard Medical School (K.S.), Department of Otolaryngology, Head and Neck Surgery, Massachusetts Eye and Ear Institute, Boston, MA; Department of Neurological Surgery (P.A.S.), University of California San Francisco, San Francisco, CA; Division of Extramural Activities (A.T.), NINDS, NIH, Rockville, MD; and Department of Neurology (J.V.), University of Minnesota, Minneapolis, MN.

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March 2020

X-Linked Dystonia-Parkinsonism: recent advances.

Curr Opin Neurol 2019 08;32(4):604-609

The Collaborative Center for X-linked Dystonia Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, Massachusetts, USA.

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August 2019

Voice and swallowing dysfunction in X-linked dystonia parkinsonism.

Laryngoscope 2020 01 19;130(1):171-177. Epub 2019 Mar 19.

Department of Neurology, Jose R. Reyes Memorial Medical Center, Manila, Philippines.

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January 2020

Neuropathology of Dystonia.

Authors:
Nutan Sharma

Tremor Other Hyperkinet Mov (N Y) 2019 25;9:569. Epub 2019 Feb 25.

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, US.

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April 2019

Novel Targets for Parkinson's Disease: Addressing Different Therapeutic Paradigms and Conundrums.

ACS Chem Neurosci 2019 01 11;10(1):44-57. Epub 2018 Jul 11.

Department of Pharmacology and Toxicology , National Institute of Pharmaceutical Education and Research (NIPER) , Ahmedabad, Gandhinagar , Gujarat - 382355 , India.

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January 2019

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.

Cell 2018 02;172(5):897-909.e21

Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, USA; The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA 02129, USA; Departments of Psychiatry and Pathology, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address:

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February 2018

Low CSF 5-HIAA in Myoclonus Dystonia.

Mov Disord 2017 11 26;32(11):1647-1649. Epub 2017 Sep 26.

Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health, London, United Kingdom.

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November 2017

Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective.

Pediatr Neurol 2017 Oct 2;75:91-95. Epub 2017 Jun 2.

Department of Neurology, Boston Children's Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Center for Translational Research, Greenwood Genetic Center, Greenville, South Carolina.

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October 2017

A Case of Functional Dystonia with Associated Functional Neurological Symptoms: Diagnostic and Therapeutic Challenges.

Harv Rev Psychiatry 2017 Sep/Oct;25(5):241-251

From Harvard Medical School (Drs. Stephen, Sharma, and Perez, and Ms. Callahan); Movement Disorders Unit (Drs. Stephen and Sharma) and Cognitive Behavioral Neurology Unit (Dr. Perez), Department of Neurology, Massachusetts General Hospital, Boston, MA; Department of Physical Therapy, MGH Institute of Health Professions (Ms. Callahan); Neuropsychiatry Unit, Department of Psychiatry, Massachusetts General Hospital (Dr. Perez); Department of Psychiatry, Department of Clinical Neurosciences, and Department of Rehabilitation Medicine, NHS Lothian and Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, United Kingdom (Dr. Carson).

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October 2018

A Case of Functional Dystonia with Associated Functional Neurological Symptoms: Diagnostic and Therapeutic Challenges.

Harv Rev Psychiatry 2017 Sep/Oct;25(5):241-251

From Harvard Medical School (Drs. Stephen, Sharma, and Perez, and Ms. Callahan); Movement Disorders Unit (Drs. Stephen and Sharma) and Cognitive Behavioral Neurology Unit (Dr. Perez), Department of Neurology, Massachusetts General Hospital, Boston, MA; Department of Physical Therapy, MGH Institute of Health Professions (Ms. Callahan); Neuropsychiatry Unit, Department of Psychiatry, Massachusetts General Hospital (Dr. Perez); Department of Psychiatry, Department of Clinical Neurosciences, and Department of Rehabilitation Medicine, NHS Lothian and Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, United Kingdom (Dr. Carson).

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October 2018

Translational effects and coding potential of an upstream open reading frame associated with DOPA Responsive Dystonia.

Biochim Biophys Acta Mol Basis Dis 2017 06 31;1863(6):1171-1182. Epub 2017 Mar 31.

Center for Brain Repair and Department of Biomedical Sciences, College of Medicine, Florida State University, Tallahassee, Florida 32306, USA. Electronic address:

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June 2017

Recent Advances in Development of GPR40 Modulators (FFA1/FFAR1): An Emerging Target for Type 2 Diabetes.

Mini Rev Med Chem 2017 ;17(11):947-958

Department of Applied Sciences, THE NORTHCAP University (Formerly ITM University), Gurgaon- 122017, Haryana, India.

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September 2017

Synthesis, spectral and extended spectrum beta-lactamase studies of transition metal tetraaza macrocyclic complexes.

J Biol Inorg Chem 2017 Jun 18;22(4):535-543. Epub 2017 Jan 18.

Department of Chemistry, American College of Dubai, 36778, Dubai, UAE.

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June 2017

X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B.

Neurobiol Dis 2017 Apr 22;100:108-118. Epub 2016 Dec 22.

The Collaborative Center for X-linked Dystonia Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA; Harvard Brain Science Initiative, Harvard Medical School, Boston, MA 02114, USA. Electronic address:

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April 2017

Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.

Otolaryngol Head Neck Surg 2016 10 17;155(4):624-8. Epub 2016 May 17.

Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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October 2016

Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias.

PLoS One 2016 12;11(5):e0155302. Epub 2016 May 12.

Mood and Motor Control Laboratory, Massachusetts General Hospital, Charlestown, MA, United States of America.

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July 2017

Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.

J Child Neurol 2016 07 6;31(8):1027-35. Epub 2016 Apr 6.

Department of Neurology, Boston Children's Hospital, Boston, MA, USA Department of Neurology, Massachusetts General Hospital, Boston, MA, USA Harvard Medical School, Boston, MA, USA.

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July 2016

Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations.

Mov Disord Clin Pract 2016 Jul-Aug;3(4):402-404. Epub 2016 Jan 29.

Department of Neurology Massachusetts General Hospital Boston Massachusetts USA.

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January 2016

Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells.

Dis Model Mech 2016 Apr 14;9(4):451-62. Epub 2016 Jan 14.

The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA Harvard Brain Science Initiative, Harvard Medical School, Boston, MA 02114, USA

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April 2016

Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.

J Biol Chem 2015 Sep 31;290(37):22543-57. Epub 2015 Jul 31.

From the University of South Carolina, Department of Biological Sciences, Columbia, South Carolina 29208,

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September 2015

Dopamine receptor and Gα(olf) expression in DYT1 dystonia mouse models during postnatal development.

PLoS One 2015 10;10(4):e0123104. Epub 2015 Apr 10.

Department of Biomedical Sciences, Center for Brain Repair, Florida State University College of Medicine, Tallahassee, Florida, United States of America.

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December 2015

Microwave assisted synthesis, characterization and biocidal activities of some new chelates of carbazole derived Schiff bases of cadmium and tin metals.

Spectrochim Acta A Mol Biomol Spectrosc 2014 Nov 23;132:733-42. Epub 2014 May 23.

Department of Chemistry, Banasthali University, Banasthali, Rajasthan 304022, India. Electronic address:

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November 2014

Update on treatments for dystonia.

Curr Neurol Neurosci Rep 2014 Jun;14(6):454

Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.

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June 2014

Clinical neurogenetics: dystonia from phenotype to genotype.

Neurol Clin 2013 Nov;31(4):969-86

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, MA, USA; Department of Neurology, Boston Children's Hospital, MA, USA. Electronic address:

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November 2013

Dopa-responsive dystonia: functional analysis of single nucleotide substitutions within the 5' untranslated GCH1 region.

PLoS One 2013 4;8(10):e76975. Epub 2013 Oct 4.

Department of Neurogenetics, Massachusetts General Hospital and Program in Neuroscience, Harvard Medical School, Boston, Massachusetts, United States of America.

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May 2014

Microwave assisted synthesis and in vitro antimicrobial activities of fluorine containing 4-benzofuran-2-yl-6-phenyl-pyrimidin-2-ylamines.

Med Chem 2014 Jun;10(4):409-17

Organic Synthesis Research Laboratory, Department of Chemistry, A.R.S.D. College, University of Delhi, New Delhi-110021, India.

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June 2014

Lysosomal enzyme defects and Parkinson disease.

Authors:
Nutan Sharma

Neurology 2013 Apr 27;80(17):1544-5. Epub 2013 Mar 27.

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April 2013

Neurogenesis and neuronal migration in the forebrain of the TorsinA knockout mouse embryo.

Dev Neurosci 2012 26;34(4):366-78. Epub 2012 Sep 26.

Department of Biomedical Sciences, Florida State University College of Medicine, Tallahassee, FL 32303, USA.

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April 2013

Evidence for altered basal ganglia-brainstem connections in cervical dystonia.

PLoS One 2012 22;7(2):e31654. Epub 2012 Feb 22.

Mood and Motor Control Laboratory, Massachusetts General Hospital, Charlestown, Massachusetts, United States of America.

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August 2012

Deep brain stimulation for medically refractory life-threatening status dystonicus in children.

J Neurosurg Pediatr 2012 Jan;9(1):99-102

Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts, USA.

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January 2012

Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.

J Neurochem 2011 Sep 8;118(6):1087-100. Epub 2011 Aug 8.

Neuroscience Center, Department of Neurology, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA.

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September 2011

Consideration of genetic contributions to the risk for spasmodic dysphonia.

Otolaryngol Head Neck Surg 2011 Sep 2;145(3):369-70. Epub 2011 Jun 2.

Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.

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September 2011

Extrapyramidal epilepsy.

Epileptic Disord 2011 Jun;13(2):181-4

Massachussets General Hospital, Harvard Medical School, Boston, MA, USA.

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June 2011

Molecular pathways in dystonia.

Neurobiol Dis 2011 May 4;42(2):136-47. Epub 2010 Dec 4.

Department of Neurology, Massachusetts General Hospital, Charlestown, MA, USA.

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May 2011

Function of dopamine transporter is compromised in DYT1 transgenic animal model in vivo.

J Neurochem 2010 Apr 2;113(1):228-35. Epub 2010 Feb 2.

Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02129, USA.

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April 2010

Pallidal stimulation for dystonia in pantothenate kinase-associated neurodegeneration.

Pediatr Neurol 2007 Dec;37(6):442-5

Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

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December 2007

Dopamine release is impaired in a mouse model of DYT1 dystonia.

J Neurochem 2007 Aug 30;102(3):783-8. Epub 2007 Apr 30.

MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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August 2007

White matter abnormalities in dystonia normalize after botulinum toxin treatment.

Neuroreport 2006 Aug;17(12):1251-5

Department of Neurology, Massachusetts General Hospital, Charlestown 02129, and Harvard Medical School, Boston, Massachusetts, USA.

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August 2006

Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation.

J Neurosci 2005 Jun;25(22):5351-5

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.

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June 2005

Rodent models for dystonia research: characteristics, evaluation, and utility.

Mov Disord 2005 Mar;20(3):283-92

Department of Neurology, Johns Hopkins University, Baltimore, Maryland 21287, USA.

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March 2005

Inherited movement disorders.

Neurol Clin 2002 Aug;20(3):759-78, vii

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

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August 2002

TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregation.

J Neurochem 2002 Nov;83(4):846-54

Alzheimer's Disease Research Unit, Center for Aging, Genetics and Neurodegeneration, Massachusetts General Hospital East, Charlestown, Massachusetts 02129, USA.

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November 2002