Movement Disorders (revue)

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The C.-237_236GA>TT THAP1 Sequence Variant Does Not Increase Risk for Primary Dystonia

Identifieur interne : 001862 ( Main/Exploration ); précédent : 001861; suivant : 001863

The C.-237_236GA>TT THAP1 Sequence Variant Does Not Increase Risk for Primary Dystonia

Auteurs : JIANFENG XIAO [États-Unis] ; YU ZHAO [États-Unis] ; Robert W. Bastian [États-Unis] ; Joel S. Perlmutter [États-Unis] ; Brad A. Racette [États-Unis] ; Samer D. Tabbal [États-Unis] ; Morvarid Karimi [États-Unis] ; Randal C. Paniello [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; Ryan J. Uitti [États-Unis] ; Jay A. Van Gerpen [États-Unis] ; David K. Simon [États-Unis] ; Daniel Tarsy [États-Unis] ; Peter Hedera [États-Unis] ; Daniel D. Truong [États-Unis] ; Karen P. Frei [États-Unis] ; Andrew Blitzer [États-Unis] ; Monika Rudzinska [Pologne] ; Ronald F. Pfeiffer [États-Unis] ; Carrie Le [États-Unis] ; Mark S. Ledoux [États-Unis]

Source :

RBID : Pascal:11-0211310

Descripteurs français

English descriptors

Abstract

Background: Sequence variants in coding and noncoding regions of THAP1 have been associated with primary dystonia. Methods: In this study, 1,446 Caucasian subjects with mainly adult-onset primary dystonia and 1,520 controls were genotyped for a variant located in the 5'-untranslated region of THAP1 (c.-237_236GA>TT). Results: Minor allele frequencies were 62/2892 (2.14%) and 55/3040 (1.81 %) in subjects with dystonia and controls, respectively (P=0.202). Subgroup analyses by gender and anatomical distribution also failed to attain statistical significance. In addition, there was no effect of the TT variant on expression levels of THAP1 transcript or protein. Discussion: Our findings indicate that the c.-237_236GA>TT THAP1 sequence variant does not increase risk for adult-onset primary dystonia in Caucasians. .


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<title xml:lang="en" level="a">The C.-237_236GA>TT THAP1 Sequence Variant Does Not Increase Risk for Primary Dystonia</title>
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<sZ>21 aut.</sZ>
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<country>États-Unis</country>
<placeName>
<region type="state">Tennessee</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Yu Zhao" sort="Yu Zhao" uniqKey="Yu Zhao" last="Yu Zhao">YU ZHAO</name>
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<s1>Department of Neurology, University of Tennessee Health Science Center</s1>
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<sZ>2 aut.</sZ>
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<placeName>
<region type="state">Tennessee</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
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<s1>Department of Anatomy and Neurobiology, University of Tennessee Health Science Center</s1>
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<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<region type="state">Tennessee</region>
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<name sortKey="Bastian, Robert W" sort="Bastian, Robert W" uniqKey="Bastian R" first="Robert W." last="Bastian">Robert W. Bastian</name>
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<placeName>
<region type="state">Illinois</region>
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<s1>Department of Neurology, Washington University School of Medicine</s1>
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<s1>Department of Radiology, Washington University School of Medicine</s1>
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<sZ>4 aut.</sZ>
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<country>États-Unis</country>
<placeName>
<region type="state">Missouri (État)</region>
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<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
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<affiliation wicri:level="4">
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<s1>Department of Neurobiology, Washington University School of Medicine</s1>
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<sZ>4 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
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<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
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<affiliation wicri:level="4">
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<s1>Department of Physical Therapy, Washington University School of Medicine</s1>
<s2>St. Louis, Missouri</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
<affiliation wicri:level="4">
<inist:fA14 i1="08">
<s1>Department of Occupational therapy, Washington University School of Medicine</s1>
<s2>St. Louis, Missouri</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author>
<name sortKey="Racette, Brad A" sort="Racette, Brad A" uniqKey="Racette B" first="Brad A." last="Racette">Brad A. Racette</name>
<affiliation wicri:level="4">
<inist:fA14 i1="04">
<s1>Department of Neurology, Washington University School of Medicine</s1>
<s2>St. Louis, Missouri</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author>
<name sortKey="Tabbal, Samer D" sort="Tabbal, Samer D" uniqKey="Tabbal S" first="Samer D." last="Tabbal">Samer D. Tabbal</name>
<affiliation wicri:level="4">
<inist:fA14 i1="04">
<s1>Department of Neurology, Washington University School of Medicine</s1>
<s2>St. Louis, Missouri</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author>
<name sortKey="Karimi, Morvarid" sort="Karimi, Morvarid" uniqKey="Karimi M" first="Morvarid" last="Karimi">Morvarid Karimi</name>
<affiliation wicri:level="4">
<inist:fA14 i1="04">
<s1>Department of Neurology, Washington University School of Medicine</s1>
<s2>St. Louis, Missouri</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author>
<name sortKey="Paniello, Randal C" sort="Paniello, Randal C" uniqKey="Paniello R" first="Randal C." last="Paniello">Randal C. Paniello</name>
<affiliation wicri:level="4">
<inist:fA14 i1="09">
<s1>Department of Otolaryngology-Head and Neck Surgery, Washington University School of Medicine</s1>
<s2>St. Louis, Missouri</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Missouri (État)</region>
<settlement type="city">Saint-Louis (Missouri)</settlement>
</placeName>
<orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName>
</affiliation>
</author>
<author>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
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<inist:fA14 i1="10">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
<affiliation wicri:level="2">
<inist:fA14 i1="10">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A." last="Van Gerpen">Jay A. Van Gerpen</name>
<affiliation wicri:level="2">
<inist:fA14 i1="10">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Simon, David K" sort="Simon, David K" uniqKey="Simon D" first="David K." last="Simon">David K. Simon</name>
<affiliation wicri:level="2">
<inist:fA14 i1="11">
<s1>Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Tarsy, Daniel" sort="Tarsy, Daniel" uniqKey="Tarsy D" first="Daniel" last="Tarsy">Daniel Tarsy</name>
<affiliation wicri:level="2">
<inist:fA14 i1="11">
<s1>Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School</s1>
<s2>Boston, Massachusetts</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Hedera, Peter" sort="Hedera, Peter" uniqKey="Hedera P" first="Peter" last="Hedera">Peter Hedera</name>
<affiliation wicri:level="2">
<inist:fA14 i1="12">
<s1>Department of Neurology, Vanderbilt University</s1>
<s2>Nashville, Tennessee</s2>
<s3>USA</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Tennessee</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Truong, Daniel D" sort="Truong, Daniel D" uniqKey="Truong D" first="Daniel D." last="Truong">Daniel D. Truong</name>
<affiliation wicri:level="2">
<inist:fA14 i1="13">
<s1>Parkinson's & Movement Disorder Institute</s1>
<s2>Fountain Valley, California</s2>
<s3>USA</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Frei, Karen P" sort="Frei, Karen P" uniqKey="Frei K" first="Karen P." last="Frei">Karen P. Frei</name>
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<inist:fA14 i1="13">
<s1>Parkinson's & Movement Disorder Institute</s1>
<s2>Fountain Valley, California</s2>
<s3>USA</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Blitzer, Andrew" sort="Blitzer, Andrew" uniqKey="Blitzer A" first="Andrew" last="Blitzer">Andrew Blitzer</name>
<affiliation wicri:level="2">
<inist:fA14 i1="14">
<s1>New York Center for Voice and Swallowing Disorders, New York</s1>
<s2>New York</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Rudzinska, Monika" sort="Rudzinska, Monika" uniqKey="Rudzinska M" first="Monika" last="Rudzinska">Monika Rudzinska</name>
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<inist:fA14 i1="15">
<s1>Department of Neurology, Jagiellonian University Medical College in Krakow</s1>
<s2>Krakow</s2>
<s3>POL</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Pologne</country>
<wicri:noRegion>Krakow</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name>
<affiliation wicri:level="2">
<inist:fA14 i1="01">
<s1>Department of Neurology, University of Tennessee Health Science Center</s1>
<s2>Memphis, Tennessee</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Tennessee</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<inist:fA14 i1="02">
<s1>Department of Anatomy and Neurobiology, University of Tennessee Health Science Center</s1>
<s2>Memphis, Tennessee</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Tennessee</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Le, Carrie" sort="Le, Carrie" uniqKey="Le C" first="Carrie" last="Le">Carrie Le</name>
<affiliation wicri:level="2">
<inist:fA14 i1="01">
<s1>Department of Neurology, University of Tennessee Health Science Center</s1>
<s2>Memphis, Tennessee</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Tennessee</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<inist:fA14 i1="02">
<s1>Department of Anatomy and Neurobiology, University of Tennessee Health Science Center</s1>
<s2>Memphis, Tennessee</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Tennessee</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
<affiliation wicri:level="2">
<inist:fA14 i1="01">
<s1>Department of Neurology, University of Tennessee Health Science Center</s1>
<s2>Memphis, Tennessee</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Tennessee</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<inist:fA14 i1="02">
<s1>Department of Anatomy and Neurobiology, University of Tennessee Health Science Center</s1>
<s2>Memphis, Tennessee</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Tennessee</region>
</placeName>
</affiliation>
</author>
</analytic>
<series>
<title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint>
<date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt>
<title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Dystonia</term>
<term>High resolution</term>
<term>Melting</term>
<term>Nervous system diseases</term>
<term>Risk factor</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr">
<term>Dystonie</term>
<term>Pathologie du système nerveux</term>
<term>Facteur risque</term>
<term>Haute résolution</term>
<term>Fusion</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">Background: Sequence variants in coding and noncoding regions of THAP1 have been associated with primary dystonia. Methods: In this study, 1,446 Caucasian subjects with mainly adult-onset primary dystonia and 1,520 controls were genotyped for a variant located in the 5'-untranslated region of THAP1 (c.-237_236GA>TT). Results: Minor allele frequencies were 62/2892 (2.14%) and 55/3040 (1.81 %) in subjects with dystonia and controls, respectively (P=0.202). Subgroup analyses by gender and anatomical distribution also failed to attain statistical significance. In addition, there was no effect of the TT variant on expression levels of THAP1 transcript or protein. Discussion: Our findings indicate that the c.-237_236GA>TT THAP1 sequence variant does not increase risk for adult-onset primary dystonia in Caucasians. .</div>
</front>
</TEI>
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<list>
<country>
<li>Pologne</li>
<li>États-Unis</li>
</country>
<region>
<li>Californie</li>
<li>Floride</li>
<li>Illinois</li>
<li>Massachusetts</li>
<li>Missouri (État)</li>
<li>Tennessee</li>
<li>État de New York</li>
</region>
<settlement>
<li>Saint-Louis (Missouri)</li>
</settlement>
<orgName>
<li>École de médecine (Université Washington de Saint-Louis)</li>
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<tree>
<country name="États-Unis">
<region name="Tennessee">
<name sortKey="Jianfeng Xiao" sort="Jianfeng Xiao" uniqKey="Jianfeng Xiao" last="Jianfeng Xiao">JIANFENG XIAO</name>
</region>
<name sortKey="Bastian, Robert W" sort="Bastian, Robert W" uniqKey="Bastian R" first="Robert W." last="Bastian">Robert W. Bastian</name>
<name sortKey="Blitzer, Andrew" sort="Blitzer, Andrew" uniqKey="Blitzer A" first="Andrew" last="Blitzer">Andrew Blitzer</name>
<name sortKey="Frei, Karen P" sort="Frei, Karen P" uniqKey="Frei K" first="Karen P." last="Frei">Karen P. Frei</name>
<name sortKey="Hedera, Peter" sort="Hedera, Peter" uniqKey="Hedera P" first="Peter" last="Hedera">Peter Hedera</name>
<name sortKey="Jianfeng Xiao" sort="Jianfeng Xiao" uniqKey="Jianfeng Xiao" last="Jianfeng Xiao">JIANFENG XIAO</name>
<name sortKey="Karimi, Morvarid" sort="Karimi, Morvarid" uniqKey="Karimi M" first="Morvarid" last="Karimi">Morvarid Karimi</name>
<name sortKey="Le, Carrie" sort="Le, Carrie" uniqKey="Le C" first="Carrie" last="Le">Carrie Le</name>
<name sortKey="Le, Carrie" sort="Le, Carrie" uniqKey="Le C" first="Carrie" last="Le">Carrie Le</name>
<name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
<name sortKey="Ledoux, Mark S" sort="Ledoux, Mark S" uniqKey="Ledoux M" first="Mark S." last="Ledoux">Mark S. Ledoux</name>
<name sortKey="Paniello, Randal C" sort="Paniello, Randal C" uniqKey="Paniello R" first="Randal C." last="Paniello">Randal C. Paniello</name>
<name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name>
<name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name>
<name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name>
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