Singular DYT6 Phenotypes in Association with New THAP1 Frameshift Mutations
Identifieur interne : 002854 ( PascalFrancis/Curation ); précédent : 002853; suivant : 002855Singular 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 Destee [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.
Descripteurs français
- Pascal (Inist)
English descriptors
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- to stream PascalFrancis, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000464
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Pascal:11-0380302Le document en format XML
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<idno type="stanalyst">PASCAL 11-0380302 INIST</idno>
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<idno type="wicri:Area/PascalFrancis/Corpus">000464</idno>
<idno type="wicri:Area/PascalFrancis/Curation">002854</idno>
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<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>
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<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>
</affiliation>
<affiliation wicri:level="1"><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>
</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>
</affiliation>
<affiliation wicri:level="1"><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>
</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>
</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>
</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>
</affiliation>
<affiliation wicri:level="1"><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>
</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>
</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>
</affiliation>
<affiliation wicri:level="1"><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>
</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>
</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>
</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>
</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>
</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>
</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>
</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>
</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>
</affiliation>
</author>
<author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destee</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>
</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>
</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>
</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>
</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>
</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>
</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>
</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>
</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>
</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>
</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>
</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>
</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>
</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>
</affiliation>
<affiliation wicri:level="1"><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>
</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>
</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>
</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>
</affiliation>
<affiliation wicri:level="1"><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>
</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>
</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>
</affiliation>
<affiliation wicri:level="1"><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>
</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>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<term>Phenotype</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du système nerveux</term>
<term>Phénotype</term>
<term>Mutation cadre lecture</term>
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<fA08 i1="01" i2="1" l="ENG"><s1>Singular DYT6 Phenotypes in Association with New THAP1 Frameshift Mutations</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>BLANCHARD (Arnaud)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>ROUBERTIE (Agathe)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>SIMONETTA-MOREAU (Marion)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>EA (Vuthy)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>COQUART (Coline)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>FREDERIC (Melissa Y.)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>GALLOUEDEC (Gael)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>ADENIS (Jean-Paul)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>BENATRU (Isabelle)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>BORG (Michel)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>BURBAUD (Pierre)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>CALVAS (Patrick)</s1>
</fA11>
<fA11 i1="13" i2="1"><s1>CIF (Laura)</s1>
</fA11>
<fA11 i1="14" i2="1"><s1>DAMIER (Philippe)</s1>
</fA11>
<fA11 i1="15" i2="1"><s1>DESTEE (Alain)</s1>
</fA11>
<fA11 i1="16" i2="1"><s1>FAIVRE (Laurence)</s1>
</fA11>
<fA11 i1="17" i2="1"><s1>GUYANT-MARECHAL (Lucie)</s1>
</fA11>
<fA11 i1="18" i2="1"><s1>JANIK (Piotr)</s1>
</fA11>
<fA11 i1="19" i2="1"><s1>JANOURA (Samer)</s1>
</fA11>
<fA11 i1="20" i2="1"><s1>KREISLER (Alexandre)</s1>
</fA11>
<fA11 i1="21" i2="1"><s1>LUSAKOWSKA (Anna)</s1>
</fA11>
<fA11 i1="22" i2="1"><s1>ODENT (Sylvie)</s1>
</fA11>
<fA11 i1="23" i2="1"><s1>POTULSKA-CHROMIK (Anna)</s1>
</fA11>
<fA11 i1="24" i2="1"><s1>RUDZINSKA (Monika)</s1>
</fA11>
<fA11 i1="25" i2="1"><s1>THOBOIS (Stephane)</s1>
</fA11>
<fA11 i1="26" i2="1"><s1>VUILLAUME (Isabelle)</s1>
</fA11>
<fA11 i1="27" i2="1"><s1>TRANCHANT (Christine)</s1>
</fA11>
<fA11 i1="28" i2="1"><s1>TUFFERY-GIRAUD (Sylvie)</s1>
</fA11>
<fA11 i1="29" i2="1"><s1>COUBES (Philippe)</s1>
</fA11>
<fA11 i1="30" i2="1"><s1>SABLONNIERE (Bernard)</s1>
</fA11>
<fA11 i1="31" i2="1"><s1>CLAUSTRES (Mireille)</s1>
</fA11>
<fA11 i1="32" i2="1"><s1>COLLOD-BEROUD (Gwenaelle)</s1>
</fA11>
<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>
</fA14>
<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>
</fA14>
<fA14 i1="03"><s1>CHU Montpellier, Hôpital Gui de Chauliac, Service de Neuropédiatrie</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Hôpitaux de Toulouse, Pôle Neurosciences</s1>
<s2>Toulouse</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
</fA14>
<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>
</fA14>
<fA14 i1="06"><s1>CHU Dupuytren, Service de Neurologie</s1>
<s2>Limoges</s2>
<s3>FRA</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>CHU Dupuytren, Service d'Ophtalmologie</s1>
<s2>Limoges</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>CHU de Dijon, Hôpital Général, Service de Neurologie</s1>
<s2>Dijon</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>CHU de Nice, Service de Neurologie</s1>
<s2>Nice</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="10"><s1>CHU Pellegrin, Service de Neurophysiologie, Clinique</s1>
<s2>Bordeaux</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="11"><s1>CHU Toulouse, Hôpital Purpan, Service de Génétique Médicale</s1>
<s2>Toulouse</s2>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
</fA14>
<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>
</fA14>
<fA14 i1="13"><s1>CHU Nantes, CIC0004, Service de Neurologie</s1>
<s2>Nantes</s2>
<s3>FRA</s3>
<sZ>14 aut.</sZ>
</fA14>
<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>
</fA14>
<fA14 i1="15"><s1>CHU de Dijon, Hôpital d'Enfants, Centre de Génétique</s1>
<s2>Dijon</s2>
<s3>FRA</s3>
<sZ>16 aut.</sZ>
</fA14>
<fA14 i1="16"><s1>CHU de Rouen, Hôpital Charles Nicolle, Département de Neurologie</s1>
<s2>Rouen</s2>
<s3>FRA</s3>
<sZ>17 aut.</sZ>
</fA14>
<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>
</fA14>
<fA14 i1="18"><s1>CHG Roanne, Service de Neurologie</s1>
<s2>Roanne</s2>
<s3>FRA</s3>
<sZ>19 aut.</sZ>
</fA14>
<fA14 i1="19"><s1>Service de Génétique Clinique, CHU de Rennes, Hôpital Sud</s1>
<s2>Rennes</s2>
<s3>FRA</s3>
<sZ>22 aut.</sZ>
</fA14>
<fA14 i1="20"><s1>Department of Neurology, Jagiellonian University Medical College</s1>
<s3>POL</s3>
<sZ>24 aut.</sZ>
</fA14>
<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>
</fA14>
<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>
</fA14>
<fA14 i1="23"><s1>Hôpitaux Universitaires de Strasbourg, Service de Neurologie</s1>
<s2>Strasbourg</s2>
<s3>FRA</s3>
<sZ>27 aut.</sZ>
</fA14>
<fA20><s1>1775-1777</s1>
</fA20>
<fA21><s1>2011</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000508939410390</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2011 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>8 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>11-0380302</s0>
</fA47>
<fA60><s1>P</s1>
<s3>CR</s3>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Phénotype</s0>
<s5>09</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>09</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Mutation cadre lecture</s0>
<s5>10</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Frameshift mutation</s0>
<s5>10</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Mutación frameshift</s0>
<s5>10</s5>
</fC03>
<fN21><s1>262</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>
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