Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.
Identifieur interne : 003177 ( Ncbi/Checkpoint ); précédent : 003176; suivant : 003178Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.
Auteurs : Arnaud Blanchard ; Agathe Roubertie ; Marion Simonetta-Moreau ; Vuthy Ea ; Coline Coquart ; Melissa Y. Frederic ; Gael Gallouedec ; Jean-Paul Adenis ; Isabelle Benatru ; Michel Borg ; Pierre Burbaud ; Patrick Calvas ; Laura Cif ; Philippe Damier ; Alain Destée [France] ; Laurence Faivre ; Lucie Guyant-Marechal ; Piotr Janik ; Samer Janoura ; Alexandre Kreisler ; Anna Lusakowska ; Sylvie Odent ; Anna Potulska-Chromik ; Monika Rudzi Ska ; Stephane Thobois ; Isabelle Vuillaume ; Christine Tranchant ; Sylvie Tuffery-Giraud ; Philippe Coubes ; Bernard Sablonnière ; Mireille Claustres ; Gwenaelle Collod-BéroudSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
English descriptors
- KwdEn :
- 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.
DOI: 10.1002/mds.23641
PubMed: 21520283
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 001250
- to stream PubMed, to step Curation: 001250
- to stream PubMed, to step Checkpoint: 001092
- to stream Ncbi, to step Merge: 003177
- to stream Ncbi, to step Curation: 003177
Links to Exploration step
pubmed:21520283Le document en format XML
<record><TEI><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 Moreau, Marion" sort="Simonetta Moreau, Marion" uniqKey="Simonetta Moreau 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 Paul" sort="Adenis, Jean Paul" 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 Marechal, Lucie" sort="Guyant Marechal, Lucie" uniqKey="Guyant Marechal 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 Chromik, Anna" sort="Potulska Chromik, Anna" uniqKey="Potulska Chromik 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 Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud 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 Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Béroud">Gwenaelle Collod-Béroud</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2011">2011</date><idno type="doi">10.1002/mds.23641</idno><idno type="RBID">pubmed:21520283</idno><idno type="pmid">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></publicationStmt><sourceDesc><biblStruct><analytic><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 Moreau, Marion" sort="Simonetta Moreau, Marion" uniqKey="Simonetta Moreau 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 Paul" sort="Adenis, Jean Paul" 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 Marechal, Lucie" sort="Guyant Marechal, Lucie" uniqKey="Guyant Marechal 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 Chromik, Anna" sort="Potulska Chromik, Anna" uniqKey="Potulska Chromik 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 Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud 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 Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Béroud">Gwenaelle Collod-Béroud</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2011" type="published">2011</date></imprint></series></biblStruct></sourceDesc></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></profileDesc></teiHeader></TEI><affiliations><list><country><li>France</li></country><region><li>Nord-Pas-de-Calais</li></region><settlement><li>Lille</li></settlement><orgName><li>Université Lille 2</li><li>Université Lille Nord de France</li></orgName></list><tree><noCountry><name sortKey="Adenis, Jean Paul" sort="Adenis, Jean Paul" uniqKey="Adenis J" first="Jean-Paul" last="Adenis">Jean-Paul Adenis</name><name sortKey="Benatru, Isabelle" sort="Benatru, Isabelle" uniqKey="Benatru I" first="Isabelle" last="Benatru">Isabelle Benatru</name><name sortKey="Blanchard, Arnaud" sort="Blanchard, Arnaud" uniqKey="Blanchard A" first="Arnaud" last="Blanchard">Arnaud Blanchard</name><name sortKey="Borg, Michel" sort="Borg, Michel" uniqKey="Borg M" first="Michel" last="Borg">Michel Borg</name><name sortKey="Burbaud, Pierre" sort="Burbaud, Pierre" uniqKey="Burbaud P" first="Pierre" last="Burbaud">Pierre Burbaud</name><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Béroud">Gwenaelle Collod-Béroud</name><name sortKey="Coquart, Coline" sort="Coquart, Coline" uniqKey="Coquart C" first="Coline" last="Coquart">Coline Coquart</name><name sortKey="Coubes, Philippe" sort="Coubes, Philippe" uniqKey="Coubes P" first="Philippe" last="Coubes">Philippe Coubes</name><name sortKey="Damier, Philippe" sort="Damier, Philippe" uniqKey="Damier P" first="Philippe" last="Damier">Philippe Damier</name><name sortKey="Ea, Vuthy" sort="Ea, Vuthy" uniqKey="Ea V" first="Vuthy" last="Ea">Vuthy Ea</name><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><name sortKey="Frederic, Melissa Y" sort="Frederic, Melissa Y" uniqKey="Frederic M" first="Melissa Y" last="Frederic">Melissa Y. Frederic</name><name sortKey="Gallouedec, Gael" sort="Gallouedec, Gael" uniqKey="Gallouedec G" first="Gael" last="Gallouedec">Gael Gallouedec</name><name sortKey="Guyant Marechal, Lucie" sort="Guyant Marechal, Lucie" uniqKey="Guyant Marechal L" first="Lucie" last="Guyant-Marechal">Lucie Guyant-Marechal</name><name sortKey="Janik, Piotr" sort="Janik, Piotr" uniqKey="Janik P" first="Piotr" last="Janik">Piotr Janik</name><name sortKey="Janoura, Samer" sort="Janoura, Samer" uniqKey="Janoura S" first="Samer" last="Janoura">Samer Janoura</name><name sortKey="Kreisler, Alexandre" sort="Kreisler, Alexandre" uniqKey="Kreisler A" first="Alexandre" last="Kreisler">Alexandre Kreisler</name><name sortKey="Lusakowska, Anna" sort="Lusakowska, Anna" uniqKey="Lusakowska A" first="Anna" last="Lusakowska">Anna Lusakowska</name><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><name sortKey="Potulska Chromik, Anna" sort="Potulska Chromik, Anna" uniqKey="Potulska Chromik A" first="Anna" last="Potulska-Chromik">Anna Potulska-Chromik</name><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name><name sortKey="Rudzi Ska, Monika" sort="Rudzi Ska, Monika" uniqKey="Rudzi Ska M" first="Monika" last="Rudzi Ska">Monika Rudzi Ska</name><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonnière">Bernard Sablonnière</name><name sortKey="Simonetta Moreau, Marion" sort="Simonetta Moreau, Marion" uniqKey="Simonetta Moreau M" first="Marion" last="Simonetta-Moreau">Marion Simonetta-Moreau</name><name sortKey="Thobois, Stephane" sort="Thobois, Stephane" uniqKey="Thobois S" first="Stephane" last="Thobois">Stephane Thobois</name><name sortKey="Tranchant, Christine" sort="Tranchant, Christine" uniqKey="Tranchant C" first="Christine" last="Tranchant">Christine Tranchant</name><name sortKey="Tuffery Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name><name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name></noCountry><country name="France"><region name="Nord-Pas-de-Calais"><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destée</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003177 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd -nk 003177 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Ncbi
|étape= Checkpoint
|type= RBID
|clé= pubmed:21520283
|texte= Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i -Sk "pubmed:21520283" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |