MovDisordV3, Main, Curation, bibRecord, 001381

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

Identifieur interne : 001381 ( Main/Curation ); précédent : 001380; suivant : 001382

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 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.

RBID : ISTEX:500A3FADB3532C96A1754A4DB27404481490231A

Descripteurs français

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

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:

DOI: 10.1002/mds.23641

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

to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002441
to stream Istex, to step Curation: Pour aller vers cette notice dans l'étape Curation :002441
to stream Istex, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000113
to stream Hal, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000056
to stream Hal, to step Curation: Pour aller vers cette notice dans l'étape Curation :000056
to stream Hal, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000017
to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001250
to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :001250
to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :001092
to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :003177
to stream Ncbi, to step Curation: Pour aller vers cette notice dans l'étape Curation :003177
to stream Ncbi, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :003177
to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :001434
to stream PascalFrancis, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000464
to stream PascalFrancis, to step Curation: Pour aller vers cette notice dans l'étape Curation :002854
to stream PascalFrancis, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000397
to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :001987

Links to Exploration step

ISTEX:500A3FADB3532C96A1754A4DB27404481490231A

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">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>
</author>
<author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name>
</author>
<author><name sortKey="Simonetta Oreau, Marion" sort="Simonetta Oreau, Marion" uniqKey="Simonetta Oreau M" first="Marion" last="Simonetta-Moreau">Marion Simonetta-Moreau</name>
</author>
<author><name sortKey="Ea, Vuthy" sort="Ea, Vuthy" uniqKey="Ea V" first="Vuthy" last="Ea">Vuthy Ea</name>
</author>
<author><name sortKey="Coquart, Coline" sort="Coquart, Coline" uniqKey="Coquart C" first="Coline" last="Coquart">Coline Coquart</name>
</author>
<author><name sortKey="Frederic, Melissa Y" sort="Frederic, Melissa Y" uniqKey="Frederic M" first="Melissa Y." last="Frederic">Melissa Y. Frederic</name>
</author>
<author><name sortKey="Gallouedec, Gael" sort="Gallouedec, Gael" uniqKey="Gallouedec G" first="Gael" last="Gallouedec">Gael Gallouedec</name>
</author>
<author><name sortKey="Adenis, Jean Aul" sort="Adenis, Jean Aul" uniqKey="Adenis J" first="Jean-Paul" last="Adenis">Jean-Paul Adenis</name>
</author>
<author><name sortKey="Benatru, Isabelle" sort="Benatru, Isabelle" uniqKey="Benatru I" first="Isabelle" last="Benatru">Isabelle Benatru</name>
</author>
<author><name sortKey="Borg, Michel" sort="Borg, Michel" uniqKey="Borg M" first="Michel" last="Borg">Michel Borg</name>
</author>
<author><name sortKey="Burbaud, Pierre" sort="Burbaud, Pierre" uniqKey="Burbaud P" first="Pierre" last="Burbaud">Pierre Burbaud</name>
</author>
<author><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name>
</author>
<author><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name>
</author>
<author><name sortKey="Damier, Philippe" sort="Damier, Philippe" uniqKey="Damier P" first="Philippe" last="Damier">Philippe Damier</name>
</author>
<author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destée</name>
<affiliation><country>France</country>
<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>
</author>
<author><name sortKey="Guyant Arechal, Lucie" sort="Guyant Arechal, Lucie" uniqKey="Guyant Arechal L" first="Lucie" last="Guyant-Marechal">Lucie Guyant-Marechal</name>
</author>
<author><name sortKey="Janik, Piotr" sort="Janik, Piotr" uniqKey="Janik P" first="Piotr" last="Janik">Piotr Janik</name>
</author>
<author><name sortKey="Janoura, Samer" sort="Janoura, Samer" uniqKey="Janoura S" first="Samer" last="Janoura">Samer Janoura</name>
</author>
<author><name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name>
</author>
<author><name sortKey="Lusakowska, Anna" sort="Lusakowska, Anna" uniqKey="Lusakowska A" first="Anna" last="Lusakowska">Anna Lusakowska</name>
</author>
<author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name>
</author>
<author><name sortKey="Potulska Hromik, Anna" sort="Potulska Hromik, Anna" uniqKey="Potulska Hromik A" first="Anna" last="Potulska-Chromik">Anna Potulska-Chromik</name>
</author>
<author><name sortKey="Rudzi Ska, Monika" sort="Rudzi Ska, Monika" uniqKey="Rudzi Ska M" first="Monika" last="Rudzi Ska">Monika Rudzi Ska</name>
</author>
<author><name sortKey="Thobois, Stephane" sort="Thobois, Stephane" uniqKey="Thobois S" first="Stephane" last="Thobois">Stephane Thobois</name>
</author>
<author><name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name>
</author>
<author><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name>
</author>
<author><name sortKey="Tuffery Iraud, Sylvie" sort="Tuffery Iraud, Sylvie" uniqKey="Tuffery Iraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name>
</author>
<author><name sortKey="Coubes, Philippe" sort="Coubes, Philippe" uniqKey="Coubes P" first="Philippe" last="Coubes">Philippe Coubes</name>
</author>
<author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonnière">Bernard Sablonnière</name>
</author>
<author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name>
</author>
<author><name sortKey="Collod Eroud, Gwenaelle" sort="Collod Eroud, Gwenaelle" uniqKey="Collod Eroud G" first="Gwenaelle" last="Collod-Béroud">Gwenaelle Collod-Béroud</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:500A3FADB3532C96A1754A4DB27404481490231A</idno>
<date when="2011" year="2011">2011</date>
<idno type="doi">10.1002/mds.23641</idno>
<idno type="url">https://api.istex.fr/document/500A3FADB3532C96A1754A4DB27404481490231A/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002441</idno>
<idno type="wicri:Area/Istex/Curation">002441</idno>
<idno type="wicri:Area/Istex/Checkpoint">000113</idno>
<idno type="wicri:doubleKey">0885-3185:2011:Blanchard A:singular:dyt:phenotypes</idno>
<idno type="wicri:source">HAL</idno>
<idno type="RBID">Hal:inserm-00589949</idno>
<idno type="url">http://www.hal.inserm.fr/inserm-00589949</idno>
<idno type="wicri:Area/Hal/Corpus">000056</idno>
<idno type="wicri:Area/Hal/Curation">000056</idno>
<idno type="wicri:Area/Hal/Checkpoint">000017</idno>
<idno type="wicri:doubleKey">0885-3185:2011:Blanchard A:singular:dyt:phenotypes</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:21520283</idno>
<idno type="wicri:Area/PubMed/Corpus">001250</idno>
<idno type="wicri:Area/PubMed/Curation">001250</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001092</idno>
<idno type="wicri:Area/Ncbi/Merge">003177</idno>
<idno type="wicri:Area/Ncbi/Curation">003177</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">003177</idno>
<idno type="wicri:Area/Main/Merge">001434</idno>
<idno type="wicri:source">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>
<idno type="wicri:Area/Main/Curation">001381</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">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"><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="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</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 Gui de Chauliac, Service de Neuropédiatrie, Montpellier</wicri:regionArea>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</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>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Hôpitaux de Toulouse, Pôle Neurosciences, Toulouse</wicri:regionArea>
<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"><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="Coquart, Coline" sort="Coquart, Coline" uniqKey="Coquart C" first="Coline" last="Coquart">Coline Coquart</name>
<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="Frederic, Melissa Y" sort="Frederic, Melissa Y" uniqKey="Frederic M" first="Melissa Y." last="Frederic">Melissa Y. Frederic</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="Gallouedec, Gael" sort="Gallouedec, Gael" uniqKey="Gallouedec G" first="Gael" last="Gallouedec">Gael Gallouedec</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>CHU Dupuytren, Service de Neurologie, Limoges</wicri:regionArea>
<placeName><settlement type="city">Limoges</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Adenis, Jean Aul" sort="Adenis, Jean Aul" uniqKey="Adenis J" first="Jean-Paul" last="Adenis">Jean-Paul Adenis</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>CHU Dupuytren, Service d'Ophtalmologie, Limoges</wicri:regionArea>
<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"><country xml:lang="fr">France</country>
<wicri:regionArea>CHU de Dijon, Hôpital Général, Service de Neurologie, Dijon</wicri:regionArea>
<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"><country 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 wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>CHU de Rouen, Hôpital Charles Nicolle, Département de Neurologie, Rouen</wicri:regionArea>
<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"><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="Janoura, Samer" sort="Janoura, Samer" uniqKey="Janoura S" first="Samer" last="Janoura">Samer Janoura</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>CHG Roanne, Service de Neurologie, Roanne</wicri:regionArea>
<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"><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>
<double idat="0885-3185:2011:Blanchard A:singular:dyt:phenotypes"><INIST><TEI><teiHeader><fileDesc><titleStmt><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>
</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>
</INIST>
<ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">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>
</author>
<author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name>
</author>
<author><name sortKey="Simonetta Oreau, Marion" sort="Simonetta Oreau, Marion" uniqKey="Simonetta Oreau M" first="Marion" last="Simonetta-Moreau">Marion Simonetta-Moreau</name>
</author>
<author><name sortKey="Ea, Vuthy" sort="Ea, Vuthy" uniqKey="Ea V" first="Vuthy" last="Ea">Vuthy Ea</name>
</author>
<author><name sortKey="Coquart, Coline" sort="Coquart, Coline" uniqKey="Coquart C" first="Coline" last="Coquart">Coline Coquart</name>
</author>
<author><name sortKey="Frederic, Melissa Y" sort="Frederic, Melissa Y" uniqKey="Frederic M" first="Melissa Y." last="Frederic">Melissa Y. Frederic</name>
</author>
<author><name sortKey="Gallouedec, Gael" sort="Gallouedec, Gael" uniqKey="Gallouedec G" first="Gael" last="Gallouedec">Gael Gallouedec</name>
</author>
<author><name sortKey="Adenis, Jean Aul" sort="Adenis, Jean Aul" uniqKey="Adenis J" first="Jean-Paul" last="Adenis">Jean-Paul Adenis</name>
</author>
<author><name sortKey="Benatru, Isabelle" sort="Benatru, Isabelle" uniqKey="Benatru I" first="Isabelle" last="Benatru">Isabelle Benatru</name>
</author>
<author><name sortKey="Borg, Michel" sort="Borg, Michel" uniqKey="Borg M" first="Michel" last="Borg">Michel Borg</name>
</author>
<author><name sortKey="Burbaud, Pierre" sort="Burbaud, Pierre" uniqKey="Burbaud P" first="Pierre" last="Burbaud">Pierre Burbaud</name>
</author>
<author><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name>
</author>
<author><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name>
</author>
<author><name sortKey="Damier, Philippe" sort="Damier, Philippe" uniqKey="Damier P" first="Philippe" last="Damier">Philippe Damier</name>
</author>
<author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destée</name>
<affiliation><country>France</country>
<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>
</author>
<author><name sortKey="Guyant Arechal, Lucie" sort="Guyant Arechal, Lucie" uniqKey="Guyant Arechal L" first="Lucie" last="Guyant-Marechal">Lucie Guyant-Marechal</name>
</author>
<author><name sortKey="Janik, Piotr" sort="Janik, Piotr" uniqKey="Janik P" first="Piotr" last="Janik">Piotr Janik</name>
</author>
<author><name sortKey="Janoura, Samer" sort="Janoura, Samer" uniqKey="Janoura S" first="Samer" last="Janoura">Samer Janoura</name>
</author>
<author><name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name>
</author>
<author><name sortKey="Lusakowska, Anna" sort="Lusakowska, Anna" uniqKey="Lusakowska A" first="Anna" last="Lusakowska">Anna Lusakowska</name>
</author>
<author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name>
</author>
<author><name sortKey="Potulska Hromik, Anna" sort="Potulska Hromik, Anna" uniqKey="Potulska Hromik A" first="Anna" last="Potulska-Chromik">Anna Potulska-Chromik</name>
</author>
<author><name sortKey="Rudzi Ska, Monika" sort="Rudzi Ska, Monika" uniqKey="Rudzi Ska M" first="Monika" last="Rudzi Ska">Monika Rudzi Ska</name>
</author>
<author><name sortKey="Thobois, Stephane" sort="Thobois, Stephane" uniqKey="Thobois S" first="Stephane" last="Thobois">Stephane Thobois</name>
</author>
<author><name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name>
</author>
<author><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name>
</author>
<author><name sortKey="Tuffery Iraud, Sylvie" sort="Tuffery Iraud, Sylvie" uniqKey="Tuffery Iraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name>
</author>
<author><name sortKey="Coubes, Philippe" sort="Coubes, Philippe" uniqKey="Coubes P" first="Philippe" last="Coubes">Philippe Coubes</name>
</author>
<author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonnière">Bernard Sablonnière</name>
</author>
<author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name>
</author>
<author><name sortKey="Collod Eroud, Gwenaelle" sort="Collod Eroud, Gwenaelle" uniqKey="Collod Eroud G" first="Gwenaelle" last="Collod-Béroud">Gwenaelle Collod-Béroud</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:500A3FADB3532C96A1754A4DB27404481490231A</idno>
<date when="2011" year="2011">2011</date>
<idno type="doi">10.1002/mds.23641</idno>
<idno type="url">https://api.istex.fr/document/500A3FADB3532C96A1754A4DB27404481490231A/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002441</idno>
<idno type="wicri:Area/Istex/Curation">002441</idno>
<idno type="wicri:Area/Istex/Checkpoint">000113</idno>
<idno type="wicri:doubleKey">0885-3185:2011:Blanchard A:singular:dyt:phenotypes</idno>
<idno type="wicri:source">HAL</idno>
<idno type="RBID">Hal:inserm-00589949</idno>
<idno type="url">http://www.hal.inserm.fr/inserm-00589949</idno>
<idno type="wicri:Area/Hal/Corpus">000056</idno>
<idno type="wicri:Area/Hal/Curation">000056</idno>
<idno type="wicri:Area/Hal/Checkpoint">000017</idno>
<idno type="wicri:doubleKey">0885-3185:2011:Blanchard A:singular:dyt:phenotypes</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:21520283</idno>
<idno type="wicri:Area/PubMed/Corpus">001250</idno>
<idno type="wicri:Area/PubMed/Curation">001250</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001092</idno>
<idno type="wicri:Area/Ncbi/Merge">003177</idno>
<idno type="wicri:Area/Ncbi/Curation">003177</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">003177</idno>
<idno type="wicri:Area/Main/Merge">001434</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">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"><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="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</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 Gui de Chauliac, Service de Neuropédiatrie, Montpellier</wicri:regionArea>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</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>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Hôpitaux de Toulouse, Pôle Neurosciences, Toulouse</wicri:regionArea>
<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"><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="Coquart, Coline" sort="Coquart, Coline" uniqKey="Coquart C" first="Coline" last="Coquart">Coline Coquart</name>
<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="Frederic, Melissa Y" sort="Frederic, Melissa Y" uniqKey="Frederic M" first="Melissa Y." last="Frederic">Melissa Y. Frederic</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="Gallouedec, Gael" sort="Gallouedec, Gael" uniqKey="Gallouedec G" first="Gael" last="Gallouedec">Gael Gallouedec</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>CHU Dupuytren, Service de Neurologie, Limoges</wicri:regionArea>
<placeName><settlement type="city">Limoges</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Adenis, Jean Aul" sort="Adenis, Jean Aul" uniqKey="Adenis J" first="Jean-Paul" last="Adenis">Jean-Paul Adenis</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>CHU Dupuytren, Service d'Ophtalmologie, Limoges</wicri:regionArea>
<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"><country xml:lang="fr">France</country>
<wicri:regionArea>CHU de Dijon, Hôpital Général, Service de Neurologie, Dijon</wicri:regionArea>
<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"><country 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 wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>CHU de Rouen, Hôpital Charles Nicolle, Département de Neurologie, Rouen</wicri:regionArea>
<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"><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="Janoura, Samer" sort="Janoura, Samer" uniqKey="Janoura S" first="Samer" last="Janoura">Samer Janoura</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>CHG Roanne, Service de Neurologie, Roanne</wicri:regionArea>
<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"><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>Humans</term>
<term>Male</term>
<term>Middle Aged</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>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
</TEI>
</ISTEX>
</double>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001381 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Curation/biblio.hfd -nk 001381 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Curation
   |type=    RBID
   |clé=     ISTEX:500A3FADB3532C96A1754A4DB27404481490231A
   |texte=   Singular DYT6 phenotypes in association with new THAP1 frameshift mutations
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

Source :

Descripteurs français

English descriptors

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri