MovDisordV3, Main, Merge, bibRecord, 001987

Singular DYT6 Phenotypes in Association with New THAP1 Frameshift Mutations

Identifieur interne : 001987 ( Main/Merge ); précédent : 001986; suivant : 001988

Singular 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 Rudzinska [Pologne] ; Stephane Thobois [France] ; Isabelle Vuillaume [France] ; Christine Tranchant [France] ; Sylvie Tuffery-Giraud [France] ; Philippe Coubes [France] ; Bernard Sablonniere [France] ; Mireille Claustres [France] ; Gwenaelle Collod-Beroud [France]

Source :

Movement disorders [ 0885-3185 ] ; 2011.

RBID : Pascal:11-0380302

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Phénotype, Mutation cadre lecture.

English descriptors

KwdEn :
- Frameshift mutation, Nervous system diseases, Phenotype.

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 000464
to stream PascalFrancis, to step Curation: 002854
to stream PascalFrancis, to step Checkpoint: 000397

Links to Exploration step

Pascal:11-0380302

Le document en format XML

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<author><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name>
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<author><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name>
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<author><name sortKey="Damier, Philippe" sort="Damier, Philippe" uniqKey="Damier P" first="Philippe" last="Damier">Philippe Damier</name>
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<author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destée</name>
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<author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name>
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<author><name sortKey="Guyant Marechal, Lucie" sort="Guyant Marechal, Lucie" uniqKey="Guyant Marechal L" first="Lucie" last="Guyant-Marechal">Lucie Guyant-Marechal</name>
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<author><name sortKey="Janik, Piotr" sort="Janik, Piotr" uniqKey="Janik P" first="Piotr" last="Janik">Piotr Janik</name>
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</inist:fA14>
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</author>
<author><name sortKey="Janoura, Samer" sort="Janoura, Samer" uniqKey="Janoura S" first="Samer" last="Janoura">Samer Janoura</name>
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<author><name sortKey="Lusakowska, Anna" sort="Lusakowska, Anna" uniqKey="Lusakowska A" first="Anna" last="Lusakowska">Anna Lusakowska</name>
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</author>
<author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name>
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<author><name sortKey="Potulska Chromik, Anna" sort="Potulska Chromik, Anna" uniqKey="Potulska Chromik A" first="Anna" last="Potulska-Chromik">Anna Potulska-Chromik</name>
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<sZ>18 aut.</sZ>
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</inist:fA14>
<country>Pologne</country>
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</affiliation>
</author>
<author><name sortKey="Rudzinska, Monika" sort="Rudzinska, Monika" uniqKey="Rudzinska M" first="Monika" last="Rudzinska">Monika Rudzinska</name>
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<country>Pologne</country>
<wicri:noRegion>Department of Neurology, 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>
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<placeName><settlement type="city">Lyon</settlement>
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<author><name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name>
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<author><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name>
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<country>France</country>
<placeName><settlement type="city">Strasbourg</settlement>
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<author><name sortKey="Tuffery Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U827</s1>
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<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Montpellier 1, UFR Médecine</s1>
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<sZ>2 aut.</sZ>
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<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
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<orgName type="university">Université Montpellier 1</orgName>
<placeName><settlement type="city">Montpellier</settlement>
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</affiliation>
</author>
<author><name sortKey="Coubes, Philippe" sort="Coubes, Philippe" uniqKey="Coubes P" first="Philippe" last="Coubes">Philippe Coubes</name>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>CHU Montpellier, Hôpital Gui de Chauliac, Service de Neurochirurgie</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>13 aut.</sZ>
<sZ>29 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name>
<affiliation wicri:level="1"><inist:fA14 i1="22"><s1>CHRU de Lille, Département de Biochimie, et de Biologie Moléculaire</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>26 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="01"><s1>INSERM, U827</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Montpellier 1, UFR Médecine</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="05"><s1>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Beroud">Gwenaelle Collod-Beroud</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U827</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Montpellier 1, UFR Médecine</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<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>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">11-0380302</idno>
<date when="2011">2011</date>
<idno type="stanalyst">PASCAL 11-0380302 INIST</idno>
<idno type="RBID">Pascal:11-0380302</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000464</idno>
<idno type="wicri:Area/PascalFrancis/Curation">002854</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000397</idno>
<idno type="wicri:doubleKey">0885-3185:2011:Blanchard A:singular:dyt:phenotypes</idno>
<idno type="wicri:Area/Main/Merge">001987</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Singular DYT6 Phenotypes in Association with New THAP1 Frameshift Mutations</title>
<author><name sortKey="Blanchard, Arnaud" sort="Blanchard, Arnaud" uniqKey="Blanchard A" first="Arnaud" last="Blanchard">Arnaud Blanchard</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U827</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Montpellier 1, UFR Médecine</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<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="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U827</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Montpellier 1, UFR Médecine</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="03"><s1>CHU Montpellier, Hôpital Gui de Chauliac, Service de Neuropédiatrie</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Simonetta Moreau, Marion" sort="Simonetta Moreau, Marion" uniqKey="Simonetta Moreau M" first="Marion" last="Simonetta-Moreau">Marion Simonetta-Moreau</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Hôpitaux de Toulouse, Pôle Neurosciences</s1>
<s2>Toulouse</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Toulouse</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ea, Vuthy" sort="Ea, Vuthy" uniqKey="Ea V" first="Vuthy" last="Ea">Vuthy Ea</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U827</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Montpellier 1, UFR Médecine</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<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="Coquart, Coline" sort="Coquart, Coline" uniqKey="Coquart C" first="Coline" last="Coquart">Coline Coquart</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Frederic, Melissa Y" sort="Frederic, Melissa Y" uniqKey="Frederic M" first="Melissa Y." last="Frederic">Melissa Y. Frederic</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U827</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Montpellier 1, UFR Médecine</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<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="Gallouedec, Gael" sort="Gallouedec, Gael" uniqKey="Gallouedec G" first="Gael" last="Gallouedec">Gael Gallouedec</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>CHU Dupuytren, Service de Neurologie</s1>
<s2>Limoges</s2>
<s3>FRA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Limoges</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Adenis, Jean Paul" sort="Adenis, Jean Paul" uniqKey="Adenis J" first="Jean-Paul" last="Adenis">Jean-Paul Adenis</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>CHU Dupuytren, Service d'Ophtalmologie</s1>
<s2>Limoges</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Limoges</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Benatru, Isabelle" sort="Benatru, Isabelle" uniqKey="Benatru I" first="Isabelle" last="Benatru">Isabelle Benatru</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>CHU de Dijon, Hôpital Général, Service de Neurologie</s1>
<s2>Dijon</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Dijon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Borg, Michel" sort="Borg, Michel" uniqKey="Borg M" first="Michel" last="Borg">Michel Borg</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>CHU de Nice, Service de Neurologie</s1>
<s2>Nice</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="10"><s1>CHU Pellegrin, Service de Neurophysiologie, Clinique</s1>
<s2>Bordeaux</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="11"><s1>CHU Toulouse, Hôpital Purpan, Service de Génétique Médicale</s1>
<s2>Toulouse</s2>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="12"><s1>CHU Montpellier, Hôpital Gui de Chauliac, Service de Neurochirurgie</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>13 aut.</sZ>
<sZ>29 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="13"><s1>CHU Nantes, CIC0004, Service de Neurologie</s1>
<s2>Nantes</s2>
<s3>FRA</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="14"><s1>CHU de Lille, Service de Neurologie, et Pathologie du Mouvement</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="15"><s1>CHU de Dijon, Hôpital d'Enfants, Centre de Génétique</s1>
<s2>Dijon</s2>
<s3>FRA</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Dijon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Guyant Marechal, Lucie" sort="Guyant Marechal, Lucie" uniqKey="Guyant Marechal L" first="Lucie" last="Guyant-Marechal">Lucie Guyant-Marechal</name>
<affiliation wicri:level="1"><inist:fA14 i1="16"><s1>CHU de Rouen, Hôpital Charles Nicolle, Département de Neurologie</s1>
<s2>Rouen</s2>
<s3>FRA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Rouen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Janik, Piotr" sort="Janik, Piotr" uniqKey="Janik P" first="Piotr" last="Janik">Piotr Janik</name>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Department of Neurology, Medical University of Warsaw</s1>
<s3>POL</s3>
<sZ>18 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Pologne</country>
<wicri:noRegion>Department of Neurology, Medical University of Warsaw</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Janoura, Samer" sort="Janoura, Samer" uniqKey="Janoura S" first="Samer" last="Janoura">Samer Janoura</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>CHG Roanne, Service de Neurologie</s1>
<s2>Roanne</s2>
<s3>FRA</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Roanne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>CHU de Lille, Service de Neurologie, et Pathologie du Mouvement</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>15 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="17"><s1>Department of Neurology, Medical University of Warsaw</s1>
<s3>POL</s3>
<sZ>18 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Pologne</country>
<wicri:noRegion>Department of Neurology, 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"><inist:fA14 i1="19"><s1>Service de Génétique Clinique, CHU de Rennes, Hôpital Sud</s1>
<s2>Rennes</s2>
<s3>FRA</s3>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Rennes</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Potulska Chromik, Anna" sort="Potulska Chromik, Anna" uniqKey="Potulska Chromik A" first="Anna" last="Potulska-Chromik">Anna Potulska-Chromik</name>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Department of Neurology, Medical University of Warsaw</s1>
<s3>POL</s3>
<sZ>18 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Pologne</country>
<wicri:noRegion>Department of Neurology, Medical University of Warsaw</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rudzinska, Monika" sort="Rudzinska, Monika" uniqKey="Rudzinska M" first="Monika" last="Rudzinska">Monika Rudzinska</name>
<affiliation wicri:level="1"><inist:fA14 i1="20"><s1>Department of Neurology, Jagiellonian University Medical College</s1>
<s3>POL</s3>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Pologne</country>
<wicri:noRegion>Department of Neurology, 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"><inist:fA14 i1="21"><s1>Hospices Civils de Lyon, Hôpital Neurologique, Service de Neurologie C</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="22"><s1>CHRU de Lille, Département de Biochimie, et de Biologie Moléculaire</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>26 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="23"><s1>Hôpitaux Universitaires de Strasbourg, Service de Neurologie</s1>
<s2>Strasbourg</s2>
<s3>FRA</s3>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Strasbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tuffery Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U827</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Montpellier 1, UFR Médecine</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="12"><s1>CHU Montpellier, Hôpital Gui de Chauliac, Service de Neurochirurgie</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>13 aut.</sZ>
<sZ>29 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name>
<affiliation wicri:level="1"><inist:fA14 i1="22"><s1>CHRU de Lille, Département de Biochimie, et de Biologie Moléculaire</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>26 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="01"><s1>INSERM, U827</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Montpellier 1, UFR Médecine</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="05"><s1>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Beroud">Gwenaelle Collod-Beroud</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U827</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Université Montpellier 1, UFR Médecine</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<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>
<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>Frameshift mutation</term>
<term>Nervous system diseases</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du   système nerveux</term>
<term>Phénotype</term>
<term>Mutation cadre lecture</term>
</keywords>
</textClass>
</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 Paul" sort="Adenis, Jean Paul" 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 Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Beroud">Gwenaelle Collod-Beroud</name>
<name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Beroud">Gwenaelle Collod-Beroud</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 Marechal, Lucie" sort="Guyant Marechal, Lucie" uniqKey="Guyant Marechal 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="Sablonniere">Bernard Sablonniere</name>
<name sortKey="Simonetta Moreau, Marion" sort="Simonetta Moreau, Marion" uniqKey="Simonetta Moreau 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 Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name>
<name sortKey="Tuffery Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud 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 Chromik, Anna" sort="Potulska Chromik, Anna" uniqKey="Potulska Chromik A" first="Anna" last="Potulska-Chromik">Anna Potulska-Chromik</name>
<name sortKey="Rudzinska, Monika" sort="Rudzinska, Monika" uniqKey="Rudzinska M" first="Monika" last="Rudzinska">Monika Rudzinska</name>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Singular DYT6 Phenotypes in Association with New THAP1 Frameshift Mutations

Singular DYT6 Phenotypes in Association with New THAP1 Frameshift Mutations

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