Thomas Voit

Thomas Voit

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Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients.

Epigenomics 2018 07 22;10(7):875-889. Epub 2018 Mar 22.

The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.2217/epi-2018-0022DOI Listing
July 2018

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.

Nat Commun 2017 11 30;8(1):1859. Epub 2017 Nov 30.

NIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1038/s41467-017-01486-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5709430PMC
November 2017

A New AAV10-U7-Mediated Gene Therapy Prolongs Survival and Restores Function in an ALS Mouse Model.

Mol Ther 2017 09 26;25(9):2038-2052. Epub 2017 Jun 26.

Centre of Research in Myology (CRM), Institut de Myologie, Sorbonne Universités, UPMC Univ Paris 06, Inserm UMRS974, GH Pitié Salpêtrière, Paris 75013, France.

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https://linkinghub.elsevier.com/retrieve/pii/S15250016173025
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http://dx.doi.org/10.1016/j.ymthe.2017.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589057PMC
September 2017

Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines.

Skelet Muscle 2016 12 8;6(1):43. Epub 2016 Dec 8.

INSERM, CNRS, Institute of Myology, Center of Research in Myology, Sorbonne Universities, UPMC Univ Paris 6, Paris, France.

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http://dx.doi.org/10.1186/s13395-016-0115-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5146814PMC
December 2016

Antisense pre-treatment increases gene therapy efficacy in dystrophic muscles.

Hum Mol Genet 2016 08 4;25(16):3555-3563. Epub 2016 Jul 4.

Sorbonne Universités UPMC Univ Paris 06, Inserm, CNRS, Institut de Myologie, Centre de Recherche en Myologie (CRM), GH Pitié Salpêtrière, 105 bd de l'Hôpital, Paris 13, France

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http://dx.doi.org/10.1093/hmg/ddw201DOI Listing
August 2016

Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.

J Hum Genet 2016 Jun 18;61(6):571-3. Epub 2016 Feb 18.

Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.

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http://dx.doi.org/10.1038/jhg.2016.6DOI Listing
June 2016

Antisense targeting of 3' end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for facioscapulohumeral dystrophy: a new gene-silencing approach.

Hum Mol Genet 2016 Apr 19;25(8):1468-78. Epub 2016 Jan 19.

Sorbonne Universités UPMC Univ Paris 06, Inserm, CNRS, Centre de Recherche en Myologie (CRM), GH Pitié Salpêtrière, 47 bld de l'hôpital, Paris 13, France and

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http://dx.doi.org/10.1093/hmg/ddw015DOI Listing
April 2016

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.

Am J Hum Genet 2016 Jan 10;98(1):90-101. Epub 2015 Dec 10.

Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. Electronic address:

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http://www.cell.com/cms/attachment/2040911867/2054828527/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500457
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http://dx.doi.org/10.1016/j.ajhg.2015.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716669PMC
January 2016

Challenges of clinical trial design for DMD.

Neuromuscul Disord 2015 Dec 23;25(12):932-5. Epub 2015 Oct 23.

NIHR Biomedical Research Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2015.10.007DOI Listing
December 2015

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.

Neuromuscul Disord 2015 Sep 13;25(9):713-8. Epub 2015 Jul 13.

Department of Neurology, University Hospital Alexandrovska, Sofia Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.nmd.2015.07.004DOI Listing
September 2015

CellWhere: graphical display of interaction networks organized on subcellular localizations.

Nucleic Acids Res 2015 Jul 16;43(W1):W571-5. Epub 2015 Apr 16.

Center for Research in Myology, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS975, CNRS FRE3617, 47 Boulevard de l'hôpital, 75013 Paris, France

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http://dx.doi.org/10.1093/nar/gkv354DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489307PMC
July 2015

Repair of rhodopsin mRNA by spliceosome-mediated RNA trans-splicing: a new approach for autosomal dominant retinitis pigmentosa.

Mol Ther 2015 May 26;23(5):918-930. Epub 2015 Jan 26.

Centre de recherche Institut de la Vision, Sorbonne Universités, Université Pierre et Marie Curie UM80, INSERM U968, and CNRS UMR 7210, Paris, France; Commissariat à l'Energie Atomique et aux Energies Alternatives (CEA), Département des Sciences du Vivant (DSV), Institut d'Imagerie Biomédicale (I2BM), MIRCen, Fontenay-aux-Roses, France; Centre National de la Recherche Scientifique (CNRS), Université Paris-Sud, Université Paris-Saclay, UMR9199, Neurodegenerative Diseases Laboratory, Fontenay-aux-Roses, France. Electronic address:

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http://dx.doi.org/10.1038/mt.2015.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427870PMC
May 2015

Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice.

Nat Commun 2014 Dec 2;5:5515. Epub 2014 Dec 2.

1] Department of Experimental Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany [2] DZHK (German Centre for Cardiovascular Research), Partner site Hamburg/Kiel/Lübeck, Hamburg, Germany.

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http://dx.doi.org/10.1038/ncomms6515DOI Listing
December 2014

Predictive markers of clinical outcome in the GRMD dog model of Duchenne muscular dystrophy.

Dis Model Mech 2014 Nov 26;7(11):1253-61. Epub 2014 Sep 26.

Université Pierre et Marie Curie-Paris 06 UM76, INSERM U974, CNRS UMR 7215, Institut de Myologie, Paris, France.

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http://dx.doi.org/10.1242/dmm.016014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213729PMC
November 2014

Dystrophin quantification: Biological and translational research implications.

Neurology 2014 Nov 29;83(22):2062-9. Epub 2014 Oct 29.

From The Dubowitz Neuromuscular Centre (K.A., V.A.-G., S.T., L.F., N.J., C.A.S., J.E.M., F.M.), UCL, Institute of Child Health, London, UK; The Center for Gene Therapy (L.E.T., A.V., Y.K., K.M.F.), The Research Institute at Nationwide Children's Hospital, Columbus, OH; Institut de Myologie (G.B., M.B., T.V.), UPMC UM76, INSERM U 794, CNRS UMR 7215, Paris, France; Institute of Genetic Medicine (R.B., M.H., S.L., V.S.), Newcastle University, UK; and Prosensa Therapeutics (A.L., G.C.), Leiden, the Netherlands. V.A.-G. is currently affiliated with the Neuromuscular Disorders Group, BioCruces Health Research Institute, Barakaldo, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000001025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248450PMC
November 2014

Manual segmentation of individual muscles of the quadriceps femoris using MRI: a reappraisal.

J Magn Reson Imaging 2014 Jul 4;40(1):239-47. Epub 2013 Nov 4.

Institut de Myologie, UPMC UM 76, INSERM U 974, CNRS UMR 7215, GH Pitié-Salpêtrière, Paris, France.

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http://doi.wiley.com/10.1002/jmri.24370
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http://dx.doi.org/10.1002/jmri.24370DOI Listing
July 2014

Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization.

J Cell Biol 2014 May 5;205(3):377-93. Epub 2014 May 5.

Institut National de la Santé et de la Recherche Médicale (INSERM) U974, 2 Centre National de la Recherche Scientifique (CNRS) UMR 7215, and 3 Université Pierre et Marie Curie-Paris 6, UM 76, Paris F-75013, France.

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http://www.jcb.org/lookup/doi/10.1083/jcb.201309096
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http://dx.doi.org/10.1083/jcb.201309096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4018784PMC
May 2014

De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.

Neurology 2013 Nov 30;81(22):1953-8. Epub 2013 Oct 30.

From the Neurogenetics Group, VIB-Department of Molecular Genetics (I.M., T.D., P.D.J., J.B.), and Laboratory of Neurogenetics, Institute Born-Bunge (I.M., T.D., P.D.J., J.B.), University of Antwerp, Antwerpen, Belgium; University of Athens (A.D.); Attiko University Hospital (A.D.), Athens, Greece; Institute of Myology (T.V.), Paris, France; Department of Pediatric Neurology (U.S.), University of Essen, Essen, Germany; Centre for Human Genetics (K.D.), Department of Nephrology and Renal Transplantation (B.M.), and Pathology (E.L.), University Hospitals Leuven, Leuven, Belgium; Department of Imaging and Pathology (E.L.), KU Leuven, Leuven, Belgium; and Department of Neurology (P.D.J., J.B.), Antwerp University Hospital, Antwerpen, Belgium.

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http://dx.doi.org/10.1212/01.wnl.0000436615.58705.c9DOI Listing
November 2013

Dystrophin rescue by trans-splicing: a strategy for DMD genotypes not eligible for exon skipping approaches.

Nucleic Acids Res 2013 Sep 16;41(17):8391-402. Epub 2013 Jul 16.

Thérapie des maladies du muscle strié, Um76 UPMC - UMR 7215 CNRS - U974 Inserm - Institut de Myologie, 75013 Paris, France and UFR des Sciences de la Santé, Université de Versailles Saint-Quentin-en-Yvelines, 78180 Montigny-le-Bretonneux, France.

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http://dx.doi.org/10.1093/nar/gkt621DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783188PMC
September 2013

AAV genome loss from dystrophic mouse muscles during AAV-U7 snRNA-mediated exon-skipping therapy.

Mol Ther 2013 Aug 11;21(8):1551-8. Epub 2013 Jun 11.

Biothérapies des Maladies Neuromusculaires, Um76 UPMC-UMR 7215 CNRS-U974 Inserm-Institut de Myologie, Paris, France.

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http://dx.doi.org/10.1038/mt.2013.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3734654PMC
August 2013

Repair of Mybpc3 mRNA by 5'-trans-splicing in a Mouse Model of Hypertrophic Cardiomyopathy.

Mol Ther Nucleic Acids 2013 Jul 2;2:e102. Epub 2013 Jul 2.

1] Department of Experimental Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany [2] DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, Hamburg, Germany.

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http://dx.doi.org/10.1038/mtna.2013.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3731888PMC
July 2013

In-depth analysis of the secretome identifies three major independent secretory pathways in differentiating human myoblasts.

J Proteomics 2012 Dec 20;77:344-56. Epub 2012 Sep 20.

Université Pierre et Marie Curie, Paris 6, UM76, Institut de Myologie, Bâtiment Babinski, GH Pitié Salpêtrière, 47, bd de l'Hôpital, Paris, F-75013, France.

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http://dx.doi.org/10.1016/j.jprot.2012.09.008DOI Listing
December 2012

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation.

Hum Mol Genet 2012 Aug 15;21(15):3449-60. Epub 2012 May 15.

UM76-UPMC/U974-Inserm/UMR7215-CNRS, Institut de Myologie 105 Bd de l’Hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1093/hmg/dds176DOI Listing
August 2012

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.

Eur J Med Genet 2011 Jan-Feb;54(1):29-33. Epub 2010 Oct 1.

Institut de Myologie, Unité de Morphologie Neuromusculaire, Groupe Hospitalier-Universitaire Pitié-Salpêtrière, Paris F-75013, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.09.009DOI Listing
June 2011

Longitudinal ambulatory measurements of gait abnormality in dystrophin-deficient dogs.

BMC Musculoskelet Disord 2011 Apr 13;12:75. Epub 2011 Apr 13.

UPR de Neurobiologie, Ecole Nationale Vétérinaire d’Alfort, 94704 Maisons-Alfort, France.

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http://dx.doi.org/10.1186/1471-2474-12-75DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103492PMC
April 2011

Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice.

Hum Mol Genet 2011 Feb 30;20(4):681-93. Epub 2010 Nov 30.

UPMC-AIM UMR S974, INSERM U 974, CNRS UMR 7215, Institut de Myologie, Université Pierre et Marie Curie Paris 6, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddq514DOI Listing
February 2011

DNAJB2 expression in normal and diseased human and mouse skeletal muscle.

Am J Pathol 2010 Jun 15;176(6):2901-10. Epub 2010 Apr 15.

Unité de Morphologie Neuromusculaire, and the Centre de Référence Neuromusculaire Paris-Est, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France

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http://dx.doi.org/10.2353/ajpath.2010.090663DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2877851PMC
June 2010

DHPR alpha1S subunit controls skeletal muscle mass and morphogenesis.

EMBO J 2010 Feb 24;29(3):643-54. Epub 2009 Dec 24.

UMR 7215, CNRS, UMR S 974 Inserm, Institut de Myologie, Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1038/emboj.2009.366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830706PMC
February 2010

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.

Ann Neurol 2010 Jan;67(1):136-40

Muscle Research Unit, Experimental and Clinical Research Center, Charité University Medicine Berlin, Germany.

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http://dx.doi.org/10.1002/ana.21839DOI Listing
January 2010

Gait analysis using accelerometry in dystrophin-deficient dogs.

Neuromuscul Disord 2009 Nov 1;19(11):788-96. Epub 2009 Oct 1.

Laboratoire de Neurobiologie, Ecole Nationale Vétérinaire d'Alfort, 94704 Maisons-Alfort, France.

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http://dx.doi.org/10.1016/j.nmd.2009.07.014DOI Listing
November 2009

Expect the unexpected: favourable outcome in Munchausen by proxy syndrome.

Eur J Pediatr 2008 Sep 7;167(9):1085-8. Epub 2007 Nov 7.

Children's Hospital, Am Hasenkopf, 63739, Aschaffenburg, Germany.

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http://link.springer.com/10.1007/s00431-007-0627-4
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http://dx.doi.org/10.1007/s00431-007-0627-4DOI Listing
September 2008

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.

Eur J Hum Genet 2008 Sep 2;16(9):1055-61. Epub 2008 Apr 2.

Department of Medical Genetics, The Folkhälsan Institute of Genetics, University of Helsinki, Biomedicum Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2008.60DOI Listing
September 2008

Caveolinopathy--new mutations and additional symptoms.

Neuromuscul Disord 2008 Jul 25;18(7):572-8. Epub 2008 Jun 25.

Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1016/j.nmd.2008.05.003DOI Listing
July 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.

Muscle Nerve 2007 Mar;35(3):396-401

Department of Neuropediatrics, Charité University Medical Center, Augustenburger Platz 1, D-13353 Berlin, Germany.

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http://dx.doi.org/10.1002/mus.20705DOI Listing
March 2007

IPPB-assisted coughing in neuromuscular disorders.

Pediatr Pulmonol 2006 Jun;41(6):551-7

Department of Pediatrics and Pediatric Neurology, University Hospital of Essen, Essen, Germany.

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http://dx.doi.org/10.1002/ppul.20406DOI Listing
June 2006

Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.

Biochemistry 2006 Mar;45(9):2968-77

Charité-Universitätsmedizin Berlin, Campus Benjamin Franklin, Institut für Biochemie und Molekularbiologie, Arnimallee 22, 14195 Berlin-Dahlem, Germany.

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http://dx.doi.org/10.1021/bi0522504DOI Listing
March 2006

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.

Arch Neurol 2006 Feb;63(2):251-7

Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital Campus, London, United Kingdom.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archneur.63.2.251DOI Listing
February 2006