Movement Disorders (revue)

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Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

Identifieur interne : 002441 ( Istex/Corpus ); précédent : 002440; suivant : 002442

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

Auteurs : Arnaud Blanchard ; Agathe Roubertie ; Marion Simonetta-Moreau ; Vuthy Ea ; Coline Coquart ; Melissa Y. Frederic ; Gael Gallouedec ; Jean-Paul Adenis ; Isabelle Benatru ; Michel Borg ; Pierre Burbaud ; Patrick Calvas ; Laura Cif ; Philippe Damier ; Alain Destee ; Laurence Faivre ; Lucie Guyant-Marechal ; Piotr Janik ; Samer Janoura ; Alexandre Kreisler ; Anna Lusakowska ; Sylvie Odent ; Anna Potulska-Chromik ; Monika Rudzi Ska ; Stephane Thobois ; Isabelle Vuillaume ; Christine Tranchant ; Sylvie Tuffery-Giraud ; Philippe Coubes ; Bernard Sablonnière ; Mireille Claustres ; Gwenaelle Collod-Béroud

Source :

RBID : ISTEX:500A3FADB3532C96A1754A4DB27404481490231A
Url:
DOI: 10.1002/mds.23641

Links to Exploration step

ISTEX:500A3FADB3532C96A1754A4DB27404481490231A

Le document en format XML

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<name sortKey="Simonetta Oreau, Marion" sort="Simonetta Oreau, Marion" uniqKey="Simonetta Oreau M" first="Marion" last="Simonetta-Moreau">Marion Simonetta-Moreau</name>
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<name sortKey="Coquart, Coline" sort="Coquart, Coline" uniqKey="Coquart C" first="Coline" last="Coquart">Coline Coquart</name>
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<name sortKey="Frederic, Melissa Y" sort="Frederic, Melissa Y" uniqKey="Frederic M" first="Melissa Y." last="Frederic">Melissa Y. Frederic</name>
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<name sortKey="Adenis, Jean Aul" sort="Adenis, Jean Aul" uniqKey="Adenis J" first="Jean-Paul" last="Adenis">Jean-Paul Adenis</name>
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<name sortKey="Borg, Michel" sort="Borg, Michel" uniqKey="Borg M" first="Michel" last="Borg">Michel Borg</name>
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<name sortKey="Burbaud, Pierre" sort="Burbaud, Pierre" uniqKey="Burbaud P" first="Pierre" last="Burbaud">Pierre Burbaud</name>
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<name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name>
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<name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name>
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<name sortKey="Damier, Philippe" sort="Damier, Philippe" uniqKey="Damier P" first="Philippe" last="Damier">Philippe Damier</name>
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<name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name>
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<name sortKey="Guyant Arechal, Lucie" sort="Guyant Arechal, Lucie" uniqKey="Guyant Arechal L" first="Lucie" last="Guyant-Marechal">Lucie Guyant-Marechal</name>
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<name sortKey="Janik, Piotr" sort="Janik, Piotr" uniqKey="Janik P" first="Piotr" last="Janik">Piotr Janik</name>
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<name sortKey="Janoura, Samer" sort="Janoura, Samer" uniqKey="Janoura S" first="Samer" last="Janoura">Samer Janoura</name>
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<name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name>
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<name sortKey="Lusakowska, Anna" sort="Lusakowska, Anna" uniqKey="Lusakowska A" first="Anna" last="Lusakowska">Anna Lusakowska</name>
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<name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name>
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<name sortKey="Potulska Hromik, Anna" sort="Potulska Hromik, Anna" uniqKey="Potulska Hromik A" first="Anna" last="Potulska-Chromik">Anna Potulska-Chromik</name>
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<name sortKey="Rudzi Ska, Monika" sort="Rudzi Ska, Monika" uniqKey="Rudzi Ska M" first="Monika" last="Rudzi Ska">Monika Rudzi Ska</name>
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<mods:affiliation>Department of Neurology, Jagiellonian University Medical College, Poland</mods:affiliation>
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<name sortKey="Thobois, Stephane" sort="Thobois, Stephane" uniqKey="Thobois S" first="Stephane" last="Thobois">Stephane Thobois</name>
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<name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name>
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<name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name>
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<mods:affiliation>Hôpitaux Universitaires de Strasbourg, Service de Neurologie, Strasbourg, France</mods:affiliation>
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<name sortKey="Tuffery Iraud, Sylvie" sort="Tuffery Iraud, Sylvie" uniqKey="Tuffery Iraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name>
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<name sortKey="Coubes, Philippe" sort="Coubes, Philippe" uniqKey="Coubes P" first="Philippe" last="Coubes">Philippe Coubes</name>
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<name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name>
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<name sortKey="Collod Eroud, Gwenaelle" sort="Collod Eroud, Gwenaelle" uniqKey="Collod Eroud G" first="Gwenaelle" last="Collod-Béroud">Gwenaelle Collod-Béroud</name>
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<mods:affiliation>CHU Montpellier, Hôpital Gui de Chauliac, Service de Neuropédiatrie, Montpellier, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Simonetta Oreau, Marion" sort="Simonetta Oreau, Marion" uniqKey="Simonetta Oreau M" first="Marion" last="Simonetta-Moreau">Marion Simonetta-Moreau</name>
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<mods:affiliation>Hôpitaux de Toulouse, Pôle Neurosciences, Toulouse, France</mods:affiliation>
</affiliation>
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<name sortKey="Ea, Vuthy" sort="Ea, Vuthy" uniqKey="Ea V" first="Vuthy" last="Ea">Vuthy Ea</name>
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<mods:affiliation>INSERM, U827, Montpellier, France</mods:affiliation>
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<mods:affiliation>Université Montpellier 1, UFR Médecine, Montpellier, France</mods:affiliation>
</affiliation>
</author>
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<name sortKey="Coquart, Coline" sort="Coquart, Coline" uniqKey="Coquart C" first="Coline" last="Coquart">Coline Coquart</name>
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<mods:affiliation>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, France</mods:affiliation>
</affiliation>
</author>
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<name sortKey="Frederic, Melissa Y" sort="Frederic, Melissa Y" uniqKey="Frederic M" first="Melissa Y." last="Frederic">Melissa Y. Frederic</name>
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<name sortKey="Gallouedec, Gael" sort="Gallouedec, Gael" uniqKey="Gallouedec G" first="Gael" last="Gallouedec">Gael Gallouedec</name>
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<mods:affiliation>CHU Dupuytren, Service de Neurologie, Limoges, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Adenis, Jean Aul" sort="Adenis, Jean Aul" uniqKey="Adenis J" first="Jean-Paul" last="Adenis">Jean-Paul Adenis</name>
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<mods:affiliation>CHU Dupuytren, Service d'Ophtalmologie, Limoges, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Benatru, Isabelle" sort="Benatru, Isabelle" uniqKey="Benatru I" first="Isabelle" last="Benatru">Isabelle Benatru</name>
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<mods:affiliation>CHU de Dijon, Hôpital Général, Service de Neurologie, Dijon, France</mods:affiliation>
</affiliation>
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<author>
<name sortKey="Borg, Michel" sort="Borg, Michel" uniqKey="Borg M" first="Michel" last="Borg">Michel Borg</name>
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<mods:affiliation>CHU de Nice, Service de Neurologie, Nice, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Burbaud, Pierre" sort="Burbaud, Pierre" uniqKey="Burbaud P" first="Pierre" last="Burbaud">Pierre Burbaud</name>
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<mods:affiliation>CHU Pellegrin, Service de Neurophysiologie Clinique, Bordeaux, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name>
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<mods:affiliation>CHU Toulouse, Hôpital Purpan, Service de Génétique Médicale, Toulouse, France</mods:affiliation>
</affiliation>
</author>
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<name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name>
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<mods:affiliation>CHU Montpellier, Hôpital Gui de Chauliac, Service de Neurochirurgie, Montpellier, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Damier, Philippe" sort="Damier, Philippe" uniqKey="Damier P" first="Philippe" last="Damier">Philippe Damier</name>
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<mods:affiliation>CHU Nantes, CIC0004, Service de Neurologie, Nantes, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destee</name>
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<mods:affiliation>CHU de Lille, Service de Neurologie et Pathologie du Mouvement, Lille, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name>
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<mods:affiliation>CHU de Dijon, Hôpital d'Enfants, Centre de Génétique, Dijon, France</mods:affiliation>
</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>
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<mods:affiliation>CHU de Rouen, Hôpital Charles Nicolle, Département de Neurologie, Rouen, France</mods:affiliation>
</affiliation>
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<name sortKey="Janik, Piotr" sort="Janik, Piotr" uniqKey="Janik P" first="Piotr" last="Janik">Piotr Janik</name>
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<mods:affiliation>Department of Neurology, Medical University of Warsaw, Poland</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Janoura, Samer" sort="Janoura, Samer" uniqKey="Janoura S" first="Samer" last="Janoura">Samer Janoura</name>
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<mods:affiliation>CHG Roanne, Service de Neurologie, Roanne, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name>
<affiliation>
<mods:affiliation>CHU de Lille, Service de Neurologie et Pathologie du Mouvement, Lille, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Lusakowska, Anna" sort="Lusakowska, Anna" uniqKey="Lusakowska A" first="Anna" last="Lusakowska">Anna Lusakowska</name>
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<mods:affiliation>Department of Neurology, Medical University of Warsaw, Poland</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name>
<affiliation>
<mods:affiliation>Service de Génétique Clinique, CHU de Rennes, Hôpital Sud, Rennes, France</mods:affiliation>
</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>
<mods:affiliation>Department of Neurology, Medical University of Warsaw, Poland</mods:affiliation>
</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>
<mods:affiliation>Department of Neurology, Jagiellonian University Medical College, Poland</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Thobois, Stephane" sort="Thobois, Stephane" uniqKey="Thobois S" first="Stephane" last="Thobois">Stephane Thobois</name>
<affiliation>
<mods:affiliation>Hospices Civils de Lyon, Hôpital Neurologique, Service de Neurologie C, Lyon, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name>
<affiliation>
<mods:affiliation>CHRU de Lille, Département de Biochimie et de Biologie Moléculaire, Lille, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name>
<affiliation>
<mods:affiliation>Hôpitaux Universitaires de Strasbourg, Service de Neurologie, Strasbourg, France</mods:affiliation>
</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>
<mods:affiliation>INSERM, U827, Montpellier, France</mods:affiliation>
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<note type="content">*Relevant conflicts of interest/financial disclosures: This study was supported by grants from the French Ministry of Health (National PHRC 2007‐A00614‐49), AMADYS‐LFCD, Alliance France Dystonie, Lions Club, French Dystonia Network, Université Montpellier 1 and INSERM. Arnaud Blanchard and Vuthy Ea are supported by a grant from the Ministère de l'Enseignement Supérieur et de la Recherche (MESR).Full financial disclosures and author roles may be found in the online version of this article.</note>
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<b>Relevant conflicts of interest/financial disclosures:</b>
This study was supported by grants from the French Ministry of Health (National PHRC 2007‐A00614‐49), AMADYS‐LFCD, Alliance France Dystonie, Lions Club, French Dystonia Network, Université Montpellier 1 and INSERM. Arnaud Blanchard and Vuthy Ea are supported by a grant from the Ministère de l'Enseignement Supérieur et de la Recherche (MESR).</p>
<p>Full financial disclosures and author roles may be found in the online version of this article.</p>
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<note type="content">*Relevant conflicts of interest/financial disclosures: This study was supported by grants from the French Ministry of Health (National PHRC 2007‐A00614‐49), AMADYS‐LFCD, Alliance France Dystonie, Lions Club, French Dystonia Network, Université Montpellier 1 and INSERM. Arnaud Blanchard and Vuthy Ea are supported by a grant from the Ministère de l'Enseignement Supérieur et de la Recherche (MESR). Full financial disclosures and author roles may be found in the online version of this article.</note>
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