A post hoc study on gene panel analysis for the diagnosis of dystonia.
Identifieur interne : 001272 ( Main/Exploration ); précédent : 001271; suivant : 001273A post hoc study on gene panel analysis for the diagnosis of dystonia.
Auteurs : Martje E. Van Egmond [Pays-Bas] ; Coen H A. Lugtenberg [Pays-Bas] ; Oebele F. Brouwer [Pays-Bas] ; Maria Fiorella Contarino [Pays-Bas] ; Victor S C. Fung [Australie] ; M Rebecca Heiner-Fokkema [Pays-Bas] ; Jacobus J. Van Hilten [Pays-Bas] ; Annemarie H. Van Der Hout [Pays-Bas] ; Kathryn J. Peall [Royaume-Uni] ; Richard J. Sinke [Pays-Bas] ; Emmanuel Roze [France] ; Corien C. Verschuuren-Bemelmans [Pays-Bas] ; Michel A. Willemsen [Pays-Bas] ; Nicole I. Wolf [Pays-Bas] ; Marina A. Tijssen [Pays-Bas] ; Tom J. De Koning [Pays-Bas]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2017.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Analyse de mutations d'ADN (), Analyse de mutations d'ADN (économie), Coûts et analyse des coûts, Dystonie (diagnostic), Dystonie (génétique), Enfant, Femelle, Humains, Imagerie par résonance magnétique, Jeune adulte, Mutation (génétique), Mâle, Protéines de tissu nerveux (génétique), Protéines membranaires (génétique), Âge de début, Études de cohortes, Évaluation de résultat (soins).
- MESH :
- diagnostic : Dystonie.
- génétique : Dystonie, Mutation, Protéines de tissu nerveux, Protéines membranaires.
- économie : Analyse de mutations d'ADN.
- Adolescent, Adulte, Adulte d'âge moyen, Analyse de mutations d'ADN, Coûts et analyse des coûts, Enfant, Femelle, Humains, Imagerie par résonance magnétique, Jeune adulte, Mâle, Âge de début, Études de cohortes, Évaluation de résultat (soins).
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Child, Cohort Studies, Costs and Cost Analysis, DNA Mutational Analysis (economics), DNA Mutational Analysis (methods), Dystonia (diagnosis), Dystonia (genetics), Female, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins (genetics), Middle Aged, Mutation (genetics), Nerve Tissue Proteins (genetics), Outcome Assessment (Health Care), Young Adult.
- MESH :
- chemical , genetics : Membrane Proteins, Nerve Tissue Proteins.
- diagnosis : Dystonia.
- economics : DNA Mutational Analysis.
- genetics : Dystonia, Mutation.
- methods : DNA Mutational Analysis.
- Adolescent, Adult, Age of Onset, Child, Cohort Studies, Costs and Cost Analysis, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Outcome Assessment (Health Care), Young Adult.
Abstract
Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next-generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of this study was to investigate whether dystonia patients with a suspected genetic cause could benefit from the use of gene panel analysis.
DOI: 10.1002/mds.26937
PubMed: 28186668
Affiliations:
- Australie, France, Pays-Bas, Royaume-Uni
- Groningue (province), Gueldre, Hollande-Méridionale, Hollande-Septentrionale, Nouvelle-Galles du Sud, Île-de-France
- Amsterdam, Groningue, Groningue (ville), Leyde, Nimègue, Paris, Sydney
- Université de Groningue, Université de Sydney
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Le document en format XML
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Van Hilten</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Van Der Hout, Annemarie H" sort="Van Der Hout, Annemarie H" uniqKey="Van Der Hout A" first="Annemarie H" last="Van Der Hout">Annemarie H. Van Der Hout</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Peall, Kathryn J" sort="Peall, Kathryn J" uniqKey="Peall K" first="Kathryn J" last="Peall">Kathryn J. Peall</name><affiliation wicri:level="1"><nlm:affiliation>MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Sinke, Richard J" sort="Sinke, Richard J" uniqKey="Sinke R" first="Richard J" last="Sinke">Richard J. Sinke</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name><affiliation wicri:level="3"><nlm:affiliation>Département de Neurologie, AP-HP, Hôpital Pitié-Salpêtrière and Sorbonne Universités, Université Pierre and Marie Curie, Institut du Cerveau et de la Moelle épinière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Neurologie, AP-HP, Hôpital Pitié-Salpêtrière and Sorbonne Universités, Université Pierre and Marie Curie, Institut du Cerveau et de la Moelle épinière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Verschuuren Bemelmans, Corien C" sort="Verschuuren Bemelmans, Corien C" uniqKey="Verschuuren Bemelmans C" first="Corien C" last="Verschuuren-Bemelmans">Corien C. Verschuuren-Bemelmans</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Willemsen, Michel A" sort="Willemsen, Michel A" uniqKey="Willemsen M" first="Michel A" last="Willemsen">Michel A. Willemsen</name><affiliation wicri:level="3"><nlm:affiliation>Radboud University Medical Centre, Department of Paediatric Neurology, Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Radboud University Medical Centre, Department of Paediatric Neurology, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Wolf, Nicole I" sort="Wolf, Nicole I" uniqKey="Wolf N" first="Nicole I" last="Wolf">Nicole I. Wolf</name><affiliation wicri:level="3"><nlm:affiliation>VU University Medical Centre, Department of Child Neurology and Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>VU University Medical Centre, Department of Child Neurology and Neuroscience Campus Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Tijssen, Marina A" sort="Tijssen, Marina A" uniqKey="Tijssen M" first="Marina A" last="Tijssen">Marina A. Tijssen</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="De Koning, Tom J" sort="De Koning, Tom J" uniqKey="De Koning T" first="Tom J" last="De Koning">Tom J. 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Van Egmond</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Lugtenberg, Coen H A" sort="Lugtenberg, Coen H A" uniqKey="Lugtenberg C" first="Coen H A" last="Lugtenberg">Coen H A. Lugtenberg</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Brouwer, Oebele F" sort="Brouwer, Oebele F" uniqKey="Brouwer O" first="Oebele F" last="Brouwer">Oebele F. Brouwer</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Contarino, Maria Fiorella" sort="Contarino, Maria Fiorella" uniqKey="Contarino M" first="Maria Fiorella" last="Contarino">Maria Fiorella Contarino</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Fung, Victor S C" sort="Fung, Victor S C" uniqKey="Fung V" first="Victor S C" last="Fung">Victor S C. Fung</name><affiliation wicri:level="4"><nlm:affiliation>Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Heiner Fokkema, M Rebecca" sort="Heiner Fokkema, M Rebecca" uniqKey="Heiner Fokkema M" first="M Rebecca" last="Heiner-Fokkema">M Rebecca Heiner-Fokkema</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Laboratory Medicine, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Laboratory Medicine, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Van Hilten, Jacobus J" sort="Van Hilten, Jacobus J" uniqKey="Van Hilten J" first="Jacobus J" last="Van Hilten">Jacobus J. Van Hilten</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Van Der Hout, Annemarie H" sort="Van Der Hout, Annemarie H" uniqKey="Van Der Hout A" first="Annemarie H" last="Van Der Hout">Annemarie H. Van Der Hout</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Peall, Kathryn J" sort="Peall, Kathryn J" uniqKey="Peall K" first="Kathryn J" last="Peall">Kathryn J. Peall</name><affiliation wicri:level="1"><nlm:affiliation>MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Sinke, Richard J" sort="Sinke, Richard J" uniqKey="Sinke R" first="Richard J" last="Sinke">Richard J. Sinke</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name><affiliation wicri:level="3"><nlm:affiliation>Département de Neurologie, AP-HP, Hôpital Pitié-Salpêtrière and Sorbonne Universités, Université Pierre and Marie Curie, Institut du Cerveau et de la Moelle épinière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Neurologie, AP-HP, Hôpital Pitié-Salpêtrière and Sorbonne Universités, Université Pierre and Marie Curie, Institut du Cerveau et de la Moelle épinière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Verschuuren Bemelmans, Corien C" sort="Verschuuren Bemelmans, Corien C" uniqKey="Verschuuren Bemelmans C" first="Corien C" last="Verschuuren-Bemelmans">Corien C. Verschuuren-Bemelmans</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Willemsen, Michel A" sort="Willemsen, Michel A" uniqKey="Willemsen M" first="Michel A" last="Willemsen">Michel A. Willemsen</name><affiliation wicri:level="3"><nlm:affiliation>Radboud University Medical Centre, Department of Paediatric Neurology, Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Radboud University Medical Centre, Department of Paediatric Neurology, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Wolf, Nicole I" sort="Wolf, Nicole I" uniqKey="Wolf N" first="Nicole I" last="Wolf">Nicole I. Wolf</name><affiliation wicri:level="3"><nlm:affiliation>VU University Medical Centre, Department of Child Neurology and Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>VU University Medical Centre, Department of Child Neurology and Neuroscience Campus Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Tijssen, Marina A" sort="Tijssen, Marina A" uniqKey="Tijssen M" first="Marina A" last="Tijssen">Marina A. Tijssen</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="De Koning, Tom J" sort="De Koning, Tom J" uniqKey="De Koning T" first="Tom J" last="De Koning">Tom J. De Koning</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Child</term><term>Cohort Studies</term><term>Costs and Cost Analysis</term><term>DNA Mutational Analysis (economics)</term><term>DNA Mutational Analysis (methods)</term><term>Dystonia (diagnosis)</term><term>Dystonia (genetics)</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Membrane Proteins (genetics)</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Nerve Tissue Proteins (genetics)</term><term>Outcome Assessment (Health Care)</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse de mutations d'ADN ()</term><term>Analyse de mutations d'ADN (économie)</term><term>Coûts et analyse des coûts</term><term>Dystonie (diagnostic)</term><term>Dystonie (génétique)</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Jeune adulte</term><term>Mutation (génétique)</term><term>Mâle</term><term>Protéines de tissu nerveux (génétique)</term><term>Protéines membranaires (génétique)</term><term>Âge de début</term><term>Études de cohortes</term><term>Évaluation de résultat (soins)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Proteins</term><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Dystonie</term></keywords><keywords scheme="MESH" qualifier="economics" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Dystonie</term><term>Mutation</term><term>Protéines de tissu nerveux</term><term>Protéines membranaires</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" qualifier="économie" xml:lang="fr"><term>Analyse de mutations d'ADN</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Child</term><term>Cohort Studies</term><term>Costs and Cost Analysis</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Outcome Assessment (Health Care)</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse de mutations d'ADN</term><term>Coûts et analyse des coûts</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Jeune adulte</term><term>Mâle</term><term>Âge de début</term><term>Études de cohortes</term><term>Évaluation de résultat (soins)</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next-generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of this study was to investigate whether dystonia patients with a suspected genetic cause could benefit from the use of gene panel analysis.</div></front></TEI><affiliations><list><country><li>Australie</li><li>France</li><li>Pays-Bas</li><li>Royaume-Uni</li></country><region><li>Groningue (province)</li><li>Gueldre</li><li>Hollande-Méridionale</li><li>Hollande-Septentrionale</li><li>Nouvelle-Galles du Sud</li><li>Île-de-France</li></region><settlement><li>Amsterdam</li><li>Groningue</li><li>Groningue (ville)</li><li>Leyde</li><li>Nimègue</li><li>Paris</li><li>Sydney</li></settlement><orgName><li>Université de Groningue</li><li>Université de Sydney</li></orgName></list><tree><country name="Pays-Bas"><region name="Groningue (province)"><name sortKey="Van Egmond, Martje E" sort="Van Egmond, Martje E" uniqKey="Van Egmond M" first="Martje E" last="Van Egmond">Martje E. Van Egmond</name></region><name sortKey="Brouwer, Oebele F" sort="Brouwer, Oebele F" uniqKey="Brouwer O" first="Oebele F" last="Brouwer">Oebele F. Brouwer</name><name sortKey="Contarino, Maria Fiorella" sort="Contarino, Maria Fiorella" uniqKey="Contarino M" first="Maria Fiorella" last="Contarino">Maria Fiorella Contarino</name><name sortKey="De Koning, Tom J" sort="De Koning, Tom J" uniqKey="De Koning T" first="Tom J" last="De Koning">Tom J. De Koning</name><name sortKey="Heiner Fokkema, M Rebecca" sort="Heiner Fokkema, M Rebecca" uniqKey="Heiner Fokkema M" first="M Rebecca" last="Heiner-Fokkema">M Rebecca Heiner-Fokkema</name><name sortKey="Lugtenberg, Coen H A" sort="Lugtenberg, Coen H A" uniqKey="Lugtenberg C" first="Coen H A" last="Lugtenberg">Coen H A. Lugtenberg</name><name sortKey="Sinke, Richard J" sort="Sinke, Richard J" uniqKey="Sinke R" first="Richard J" last="Sinke">Richard J. Sinke</name><name sortKey="Tijssen, Marina A" sort="Tijssen, Marina A" uniqKey="Tijssen M" first="Marina A" last="Tijssen">Marina A. Tijssen</name><name sortKey="Van Der Hout, Annemarie H" sort="Van Der Hout, Annemarie H" uniqKey="Van Der Hout A" first="Annemarie H" last="Van Der Hout">Annemarie H. Van Der Hout</name><name sortKey="Van Hilten, Jacobus J" sort="Van Hilten, Jacobus J" uniqKey="Van Hilten J" first="Jacobus J" last="Van Hilten">Jacobus J. Van Hilten</name><name sortKey="Verschuuren Bemelmans, Corien C" sort="Verschuuren Bemelmans, Corien C" uniqKey="Verschuuren Bemelmans C" first="Corien C" last="Verschuuren-Bemelmans">Corien C. Verschuuren-Bemelmans</name><name sortKey="Willemsen, Michel A" sort="Willemsen, Michel A" uniqKey="Willemsen M" first="Michel A" last="Willemsen">Michel A. Willemsen</name><name sortKey="Wolf, Nicole I" sort="Wolf, Nicole I" uniqKey="Wolf N" first="Nicole I" last="Wolf">Nicole I. Wolf</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Fung, Victor S C" sort="Fung, Victor S C" uniqKey="Fung V" first="Victor S C" last="Fung">Victor S C. Fung</name></region></country><country name="Royaume-Uni"><noRegion><name sortKey="Peall, Kathryn J" sort="Peall, Kathryn J" uniqKey="Peall K" first="Kathryn J" last="Peall">Kathryn J. Peall</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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