Singular DYT6 phenotypes in association with new THAP1 frameshift mutations
Identifieur interne : 000150 ( France/Analysis ); précédent : 000149; suivant : 000151Singular DYT6 phenotypes in association with new THAP1 frameshift mutations
Auteurs : Arnaud Blanchard [France] ; Agathe Roubertie [France] ; Marion Simonetta-Moreau [France] ; Vuthy Ea [France] ; Coline Coquart [France] ; Melissa Y. Frederic [France] ; Gael Gallouedec [France] ; Jean-Paul Adenis [France] ; Isabelle Benatru [France] ; Michel Borg [France] ; Pierre Burbaud [France] ; Patrick Calvas [France] ; Laura Cif [France] ; Philippe Damier [France] ; Alain Destée [France] ; Laurence Faivre [France] ; Lucie Guyant-Marechal [France] ; Piotr Janik [Pologne] ; Samer Janoura [France] ; Alexandre Kreisler [France] ; Anna Lusakowska [Pologne] ; Sylvie Odent [France] ; Anna Potulska-Chromik [Pologne] ; Monika Rudzi Ska [Pologne] ; Stephane Thobois [France] ; Isabelle Vuillaume [France] ; Christine Tranchant [France] ; Sylvie Tuffery-Giraud [France] ; Philippe Coubes [France] ; Bernard Sablonnière [France] ; Mireille Claustres [France] ; Gwenaelle Collod-Béroud [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-08-01.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Apoptosis Regulatory Proteins (genetics), DNA-Binding Proteins (genetics), Dystonia Musculorum Deformans (genetics), Dystonia Musculorum Deformans (physiopathology), Female, Frameshift Mutation (genetics), Frameshift mutation, Humans, Male, Middle Aged, Nervous system diseases, Nuclear Proteins (genetics), Phenotype.
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Nuclear Proteins.
- genetics : Dystonia Musculorum Deformans, Frameshift Mutation.
- physiopathology : Dystonia Musculorum Deformans.
- Adult, Female, Humans, Male, Middle Aged, Phenotype.
Url:
- https://api.istex.fr/document/500A3FADB3532C96A1754A4DB27404481490231A/fulltext/pdf
- http://www.hal.inserm.fr/inserm-00589949
DOI: 10.1002/mds.23641
Affiliations:
- France, Pologne
- Languedoc-Roussillon, Nord-Pas-de-Calais
- Bordeaux, Dijon, Lille, Limoges, Lyon, Montpellier, Nantes, Nice, Rennes, Roanne, Rouen, Strasbourg, Toulouse
- Université Lille 2, Université Lille Nord de France, Université Montpellier 1
Links toward previous steps (curation, corpus...)
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- to stream Hal, to step Curation: 000056
- to stream Hal, to step Checkpoint: 000017
- to stream PubMed, to step Corpus: 001250
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- to stream Ncbi, to step Curation: 003177
- to stream Ncbi, to step Checkpoint: 003177
- to stream Main, to step Merge: 001434
- to stream PascalFrancis, to step Corpus: 000464
- to stream PascalFrancis, to step Curation: 002854
- to stream PascalFrancis, to step Checkpoint: 000397
- to stream Main, to step Merge: 001987
- to stream Main, to step Curation: 001381
- to stream Main, to step Exploration: 001381
- to stream France, to step Extraction: 000150
Links to Exploration step
ISTEX:500A3FADB3532C96A1754A4DB27404481490231ALe document en format XML
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xml:lang="fr">France</country><wicri:regionArea>CHU de Nice, Service de Neurologie, Nice</wicri:regionArea><placeName><settlement type="city">Nice</settlement></placeName></affiliation></author><author><name sortKey="Burbaud, Pierre" sort="Burbaud, Pierre" uniqKey="Burbaud P" first="Pierre" last="Burbaud">Pierre Burbaud</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CHU Pellegrin, Service de Neurophysiologie Clinique, Bordeaux</wicri:regionArea><placeName><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CHU Toulouse, Hôpital Purpan, Service de Génétique Médicale, Toulouse</wicri:regionArea><placeName><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CHU Montpellier, Hôpital Gui de Chauliac, Service de Neurochirurgie, Montpellier</wicri:regionArea><placeName><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Damier, Philippe" sort="Damier, Philippe" uniqKey="Damier P" first="Philippe" last="Damier">Philippe Damier</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CHU Nantes, CIC0004, Service de Neurologie, Nantes</wicri:regionArea><placeName><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destée</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CHU de Lille, Service de Neurologie et Pathologie du Mouvement, Lille</wicri:regionArea><placeName><settlement type="city">Lille</settlement></placeName><placeName><settlement type="city">Lille</settlement><region type="region" nuts="2">Nord-Pas-de-Calais</region></placeName><orgName type="university" n="3">Université Lille 2</orgName><orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CHU de Dijon, Hôpital d'Enfants, Centre de Génétique, Dijon</wicri:regionArea><placeName><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Guyant Arechal, Lucie" sort="Guyant Arechal, Lucie" uniqKey="Guyant Arechal L" first="Lucie" last="Guyant-Marechal">Lucie Guyant-Marechal</name><affiliation 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sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CHU de Lille, Service de Neurologie et Pathologie du Mouvement, Lille</wicri:regionArea><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Lusakowska, Anna" sort="Lusakowska, Anna" uniqKey="Lusakowska A" first="Anna" last="Lusakowska">Anna Lusakowska</name><affiliation wicri:level="1"><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Neurology, Medical University of Warsaw</wicri:regionArea><wicri:noRegion>Medical University of Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, CHU de Rennes, Hôpital Sud, Rennes</wicri:regionArea><placeName><settlement type="city">Rennes</settlement></placeName></affiliation></author><author><name sortKey="Potulska Hromik, Anna" sort="Potulska Hromik, Anna" uniqKey="Potulska Hromik A" first="Anna" last="Potulska-Chromik">Anna Potulska-Chromik</name><affiliation wicri:level="1"><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Neurology, Medical University of Warsaw</wicri:regionArea><wicri:noRegion>Medical University of Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Rudzi Ska, Monika" sort="Rudzi Ska, Monika" uniqKey="Rudzi Ska M" first="Monika" last="Rudzi Ska">Monika Rudzi Ska</name><affiliation wicri:level="1"><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Neurology, Jagiellonian University Medical College</wicri:regionArea><wicri:noRegion>Jagiellonian University Medical College</wicri:noRegion></affiliation></author><author><name sortKey="Thobois, Stephane" sort="Thobois, Stephane" uniqKey="Thobois S" first="Stephane" last="Thobois">Stephane Thobois</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Hospices Civils de Lyon, Hôpital Neurologique, Service de Neurologie C, Lyon</wicri:regionArea><placeName><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CHRU de Lille, Département de Biochimie et de Biologie Moléculaire, Lille</wicri:regionArea><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Hôpitaux Universitaires de Strasbourg, Service de Neurologie, Strasbourg</wicri:regionArea><placeName><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Tuffery Iraud, Sylvie" sort="Tuffery Iraud, Sylvie" uniqKey="Tuffery Iraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier</wicri:regionArea><placeName><settlement type="city">Montpellier</settlement></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Université Montpellier 1, UFR Médecine, Montpellier</wicri:regionArea><placeName><settlement type="city">Montpellier</settlement></placeName><orgName type="university">Université Montpellier 1</orgName><placeName><settlement type="city">Montpellier</settlement><region type="region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Coubes, Philippe" sort="Coubes, Philippe" uniqKey="Coubes P" first="Philippe" last="Coubes">Philippe Coubes</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CHU Montpellier, Hôpital Gui de Chauliac, Service de Neurochirurgie, Montpellier</wicri:regionArea><placeName><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonnière">Bernard Sablonnière</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CHRU de Lille, Département de Biochimie et de Biologie Moléculaire, Lille</wicri:regionArea><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier</wicri:regionArea><placeName><settlement type="city">Montpellier</settlement></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Université Montpellier 1, UFR Médecine, Montpellier</wicri:regionArea><placeName><settlement type="city">Montpellier</settlement></placeName><orgName type="university">Université Montpellier 1</orgName><placeName><settlement type="city">Montpellier</settlement><region type="region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier</wicri:regionArea><placeName><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Collod Eroud, Gwenaelle" sort="Collod Eroud, Gwenaelle" uniqKey="Collod Eroud G" first="Gwenaelle" last="Collod-Béroud">Gwenaelle Collod-Béroud</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier</wicri:regionArea><placeName><settlement type="city">Montpellier</settlement></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Université Montpellier 1, UFR Médecine, Montpellier</wicri:regionArea><placeName><settlement type="city">Montpellier</settlement></placeName><orgName type="university">Université Montpellier 1</orgName><placeName><settlement type="city">Montpellier</settlement><region type="region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-08-01">2011-08-01</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1775">1775</biblScope><biblScope unit="page" to="1776">1776</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">500A3FADB3532C96A1754A4DB27404481490231A</idno><idno type="DOI">10.1002/mds.23641</idno><idno type="ArticleID">MDS23641</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Apoptosis Regulatory Proteins (genetics)</term><term>DNA-Binding Proteins (genetics)</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Dystonia Musculorum Deformans (physiopathology)</term><term>Female</term><term>Frameshift Mutation (genetics)</term><term>Frameshift mutation</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Nervous system diseases</term><term>Nuclear Proteins (genetics)</term><term>Phenotype</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term><term>DNA-Binding Proteins</term><term>Nuclear Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Frameshift Mutation</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonia Musculorum Deformans</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Mutation cadre lecture</term><term>Pathologie du système nerveux</term><term>Phénotype</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader></TEI><affiliations><list><country><li>France</li><li>Pologne</li></country><region><li>Languedoc-Roussillon</li><li>Nord-Pas-de-Calais</li></region><settlement><li>Bordeaux</li><li>Dijon</li><li>Lille</li><li>Limoges</li><li>Lyon</li><li>Montpellier</li><li>Nantes</li><li>Nice</li><li>Rennes</li><li>Roanne</li><li>Rouen</li><li>Strasbourg</li><li>Toulouse</li></settlement><orgName><li>Université Lille 2</li><li>Université Lille Nord de France</li><li>Université Montpellier 1</li></orgName></list><tree><country name="France"><noRegion><name sortKey="Blanchard, Arnaud" sort="Blanchard, Arnaud" uniqKey="Blanchard A" first="Arnaud" last="Blanchard">Arnaud Blanchard</name></noRegion><name sortKey="Adenis, Jean Aul" sort="Adenis, Jean Aul" uniqKey="Adenis J" first="Jean-Paul" last="Adenis">Jean-Paul Adenis</name><name sortKey="Benatru, Isabelle" sort="Benatru, Isabelle" uniqKey="Benatru I" first="Isabelle" last="Benatru">Isabelle Benatru</name><name sortKey="Blanchard, Arnaud" sort="Blanchard, Arnaud" uniqKey="Blanchard A" first="Arnaud" last="Blanchard">Arnaud Blanchard</name><name sortKey="Borg, Michel" sort="Borg, Michel" uniqKey="Borg M" first="Michel" last="Borg">Michel Borg</name><name sortKey="Burbaud, Pierre" sort="Burbaud, Pierre" uniqKey="Burbaud P" first="Pierre" last="Burbaud">Pierre Burbaud</name><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><name sortKey="Collod Eroud, Gwenaelle" sort="Collod Eroud, Gwenaelle" uniqKey="Collod Eroud G" first="Gwenaelle" last="Collod-Béroud">Gwenaelle Collod-Béroud</name><name sortKey="Collod Eroud, Gwenaelle" sort="Collod Eroud, Gwenaelle" uniqKey="Collod Eroud G" first="Gwenaelle" last="Collod-Béroud">Gwenaelle Collod-Béroud</name><name sortKey="Coquart, Coline" sort="Coquart, Coline" uniqKey="Coquart C" first="Coline" last="Coquart">Coline Coquart</name><name sortKey="Coubes, Philippe" sort="Coubes, Philippe" uniqKey="Coubes P" first="Philippe" last="Coubes">Philippe Coubes</name><name sortKey="Damier, Philippe" sort="Damier, Philippe" uniqKey="Damier P" first="Philippe" last="Damier">Philippe Damier</name><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destée</name><name sortKey="Ea, Vuthy" sort="Ea, Vuthy" uniqKey="Ea V" first="Vuthy" last="Ea">Vuthy Ea</name><name sortKey="Ea, Vuthy" sort="Ea, Vuthy" uniqKey="Ea V" first="Vuthy" last="Ea">Vuthy Ea</name><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><name sortKey="Frederic, Melissa Y" sort="Frederic, Melissa Y" uniqKey="Frederic M" first="Melissa Y." last="Frederic">Melissa Y. Frederic</name><name sortKey="Frederic, Melissa Y" sort="Frederic, Melissa Y" uniqKey="Frederic M" first="Melissa Y." last="Frederic">Melissa Y. Frederic</name><name sortKey="Gallouedec, Gael" sort="Gallouedec, Gael" uniqKey="Gallouedec G" first="Gael" last="Gallouedec">Gael Gallouedec</name><name sortKey="Guyant Arechal, Lucie" sort="Guyant Arechal, Lucie" uniqKey="Guyant Arechal L" first="Lucie" last="Guyant-Marechal">Lucie Guyant-Marechal</name><name sortKey="Janoura, Samer" sort="Janoura, Samer" uniqKey="Janoura S" first="Samer" last="Janoura">Samer Janoura</name><name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonnière">Bernard Sablonnière</name><name sortKey="Simonetta Oreau, Marion" sort="Simonetta Oreau, Marion" uniqKey="Simonetta Oreau M" first="Marion" last="Simonetta-Moreau">Marion Simonetta-Moreau</name><name sortKey="Thobois, Stephane" sort="Thobois, Stephane" uniqKey="Thobois S" first="Stephane" last="Thobois">Stephane Thobois</name><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name><name sortKey="Tuffery Iraud, Sylvie" sort="Tuffery Iraud, Sylvie" uniqKey="Tuffery Iraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name><name sortKey="Tuffery Iraud, Sylvie" sort="Tuffery Iraud, Sylvie" uniqKey="Tuffery Iraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name><name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name></country><country name="Pologne"><noRegion><name sortKey="Janik, Piotr" sort="Janik, Piotr" uniqKey="Janik P" first="Piotr" last="Janik">Piotr Janik</name></noRegion><name sortKey="Lusakowska, Anna" sort="Lusakowska, Anna" uniqKey="Lusakowska A" first="Anna" last="Lusakowska">Anna Lusakowska</name><name sortKey="Potulska Hromik, Anna" sort="Potulska Hromik, Anna" uniqKey="Potulska Hromik A" first="Anna" last="Potulska-Chromik">Anna Potulska-Chromik</name><name sortKey="Rudzi Ska, Monika" sort="Rudzi Ska, Monika" uniqKey="Rudzi Ska M" first="Monika" last="Rudzi Ska">Monika Rudzi Ska</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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