Mutation screening of the DYT6/THAP1 gene in Italy
Identifieur interne : 002197 ( Main/Exploration ); précédent : 002196; suivant : 002198Mutation screening of the DYT6/THAP1 gene in Italy
Auteurs : Monica Bonetti [Italie] ; Chiara Barzaghi [Italie] ; Francesco Brancati [Italie] ; Alessandro Ferraris [Italie] ; Emanuele Bellacchio [Italie] ; Alessandro Giovanetti [Italie] ; Tamara Ialongo [Italie] ; Giovanna Zorzi [Italie] ; Carla Piano [Italie] ; Martina Petracca [Italie] ; Alberto Albanese [Italie] ; Nardo Nardocci [Italie] ; Bruno Dallapiccola [Italie] ; Anna Rita Bentivoglio [Italie] ; Barbara Garavaglia [Italie] ; Enza Maria Valente [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-12-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Italie.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Apoptosis Regulatory Proteins (genetics), Child, Child, Preschool, Cohort Studies, DNA-Binding Proteins (genetics), DYT6, Dystonia, Dystonia Musculorum Deformans (genetics), Female, Genetic Testing (methods), Humans, Infant, Italy, Italy (epidemiology), Male, Medical screening, Middle Aged, Mutation, Mutation (genetics), Nervous system diseases, Nuclear Proteins (genetics), THAP1, Torsion, Torticollis, Young Adult, primary torsion dystonia, torticollis.
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Nuclear Proteins.
- geographic , epidemiology : Italy.
- genetics : Dystonia Musculorum Deformans, Mutation.
- methods : Genetic Testing.
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Child, Child, Preschool, Cohort Studies, Female, Humans, Infant, Male, Middle Aged, Young Adult.
Abstract
Mutations in the THAP1 gene on chromosome 8p21‐p22 (DYT6 locus) have been recently reported as causative of autosomal dominant primary torsion dystonia (PTD) in four Amish–Mennonite families and in 12 additional probands of different ancestry. We sequenced the THAP1 gene in 158 patients with DYT1‐negative PTD who had onset of symptoms below 30 years and/or positive family history. One sporadic Greek male patient, aged 57 years, was found to carry a novel heterozygous missense variant in THAP1 exon 3 (p.Cys170Arg), of likely pathogenic significance. This subject first presented with right writer's cramp at age of 10 years and, subsequently, developed left arm dystonia and an extremely severe left laterocollis, without further spreading to other body districts. Our findings expand the genotypic spectrum of THAP1 and strengthen the association with upper body involvement, including the cranial and cervical districts that are usually spared in DYT1‐PTD. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22861
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 000E20
- to stream Istex, to step Curation: 000E20
- to stream Istex, to step Checkpoint: 000D99
- to stream PubMed, to step Corpus: 001A83
- to stream PubMed, to step Curation: 001A83
- to stream PubMed, to step Checkpoint: 001D04
- to stream Ncbi, to step Merge: 002900
- to stream Ncbi, to step Curation: 002900
- to stream Ncbi, to step Checkpoint: 002900
- to stream Main, to step Merge: 002A58
- to stream PascalFrancis, to step Corpus: 000C70
- to stream PascalFrancis, to step Curation: 002049
- to stream PascalFrancis, to step Checkpoint: 000D97
- to stream Main, to step Merge: 002E94
- to stream Main, to step Curation: 002197
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutation screening of the DYT6/THAP1 gene in Italy</title><author><name sortKey="Bonetti, Monica" sort="Bonetti, Monica" uniqKey="Bonetti M" first="Monica" last="Bonetti">Monica Bonetti</name></author><author><name sortKey="Barzaghi, Chiara" sort="Barzaghi, Chiara" uniqKey="Barzaghi C" first="Chiara" last="Barzaghi">Chiara Barzaghi</name></author><author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name></author><author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name></author><author><name sortKey="Bellacchio, Emanuele" sort="Bellacchio, Emanuele" uniqKey="Bellacchio E" first="Emanuele" last="Bellacchio">Emanuele Bellacchio</name></author><author><name sortKey="Giovanetti, Alessandro" sort="Giovanetti, Alessandro" uniqKey="Giovanetti A" first="Alessandro" last="Giovanetti">Alessandro Giovanetti</name></author><author><name sortKey="Ialongo, Tamara" sort="Ialongo, Tamara" uniqKey="Ialongo T" first="Tamara" last="Ialongo">Tamara Ialongo</name></author><author><name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name></author><author><name sortKey="Piano, Carla" sort="Piano, Carla" uniqKey="Piano C" first="Carla" last="Piano">Carla Piano</name></author><author><name sortKey="Petracca, Martina" sort="Petracca, Martina" uniqKey="Petracca M" first="Martina" last="Petracca">Martina Petracca</name></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name></author><author><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:BAD3A81A0EB7559C9B88842083374D02512F2541</idno><date when="2009" year="2009">2009</date><idno type="doi">10.1002/mds.22861</idno><idno type="url">https://api.istex.fr/document/BAD3A81A0EB7559C9B88842083374D02512F2541/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000E20</idno><idno type="wicri:Area/Istex/Curation">000E20</idno><idno type="wicri:Area/Istex/Checkpoint">000D99</idno><idno type="wicri:doubleKey">0885-3185:2009:Bonetti M:mutation:screening:of</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:19908325</idno><idno type="wicri:Area/PubMed/Corpus">001A83</idno><idno type="wicri:Area/PubMed/Curation">001A83</idno><idno type="wicri:Area/PubMed/Checkpoint">001D04</idno><idno type="wicri:Area/Ncbi/Merge">002900</idno><idno type="wicri:Area/Ncbi/Curation">002900</idno><idno type="wicri:Area/Ncbi/Checkpoint">002900</idno><idno type="wicri:Area/Main/Merge">002A58</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:10-0071245</idno><idno type="wicri:Area/PascalFrancis/Corpus">000C70</idno><idno type="wicri:Area/PascalFrancis/Curation">002049</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000D97</idno><idno type="wicri:doubleKey">0885-3185:2009:Bonetti M:mutation:screening:of</idno><idno type="wicri:Area/Main/Merge">002E94</idno><idno type="wicri:Area/Main/Curation">002197</idno><idno type="wicri:Area/Main/Exploration">002197</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Mutation screening of the DYT6/THAP1 gene in Italy</title><author><name sortKey="Bonetti, Monica" sort="Bonetti, Monica" uniqKey="Bonetti M" first="Monica" last="Bonetti">Monica Bonetti</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Casa Sollievo della Sofferenza, CSS‐Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Barzaghi, Chiara" sort="Barzaghi, Chiara" uniqKey="Barzaghi C" first="Chiara" last="Barzaghi">Chiara Barzaghi</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Molecular Neurogenetics, Department of Child Neuropsychiatry and Department of Neurology, IRCCS Neurologic Institute Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Casa Sollievo della Sofferenza, CSS‐Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Biomedical Sciences, Ce.S.I. Aging Research Center, Gabriele d'Annunzio University Foundation, Chieti</wicri:regionArea><wicri:noRegion>Chieti</wicri:noRegion></affiliation></author><author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Casa Sollievo della Sofferenza, CSS‐Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Bellacchio, Emanuele" sort="Bellacchio, Emanuele" uniqKey="Bellacchio E" first="Emanuele" last="Bellacchio">Emanuele Bellacchio</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Casa Sollievo della Sofferenza, CSS‐Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Giovanetti, Alessandro" sort="Giovanetti, Alessandro" uniqKey="Giovanetti A" first="Alessandro" last="Giovanetti">Alessandro Giovanetti</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Molecular Neurogenetics, Department of Child Neuropsychiatry and Department of Neurology, IRCCS Neurologic Institute Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Ialongo, Tamara" sort="Ialongo, Tamara" uniqKey="Ialongo T" first="Tamara" last="Ialongo">Tamara Ialongo</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, Catholic University, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neuropsychiatry, IRCCS Neurologic Institute Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Piano, Carla" sort="Piano, Carla" uniqKey="Piano C" first="Carla" last="Piano">Carla Piano</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, Catholic University, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Petracca, Martina" sort="Petracca, Martina" uniqKey="Petracca M" first="Martina" last="Petracca">Martina Petracca</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, Catholic University, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department. of Neurology, IRCCS Neurologic Institute Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neuropsychiatry, IRCCS Neurologic Institute Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Casa Sollievo della Sofferenza, CSS‐Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, Catholic University, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Molecular Neurogenetics, Department of Child Neuropsychiatry and Department of Neurology, IRCCS Neurologic Institute Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Casa Sollievo della Sofferenza, CSS‐Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Medical and Surgical Pediatric Sciences, University of Messina, Messina</wicri:regionArea><wicri:noRegion>Messina</wicri:noRegion></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="2009-12-15">2009-12-15</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">16</biblScope><biblScope unit="page" from="2424">2424</biblScope><biblScope unit="page" to="2427">2427</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">BAD3A81A0EB7559C9B88842083374D02512F2541</idno><idno type="DOI">10.1002/mds.22861</idno><idno type="ArticleID">MDS22861</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Apoptosis Regulatory Proteins (genetics)</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>DNA-Binding Proteins (genetics)</term><term>DYT6</term><term>Dystonia</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Female</term><term>Genetic Testing (methods)</term><term>Humans</term><term>Infant</term><term>Italy</term><term>Italy (epidemiology)</term><term>Male</term><term>Medical screening</term><term>Middle Aged</term><term>Mutation</term><term>Mutation (genetics)</term><term>Nervous system diseases</term><term>Nuclear Proteins (genetics)</term><term>THAP1</term><term>Torsion</term><term>Torticollis</term><term>Young Adult</term><term>primary torsion dystonia</term><term>torticollis</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" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Italy</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Testing</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>Female</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Dépistage</term><term>Italie</term><term>Mutation</term><term>Pathologie du système nerveux</term><term>Torsion</term><term>Torticolis</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the THAP1 gene on chromosome 8p21‐p22 (DYT6 locus) have been recently reported as causative of autosomal dominant primary torsion dystonia (PTD) in four Amish–Mennonite families and in 12 additional probands of different ancestry. We sequenced the THAP1 gene in 158 patients with DYT1‐negative PTD who had onset of symptoms below 30 years and/or positive family history. One sporadic Greek male patient, aged 57 years, was found to carry a novel heterozygous missense variant in THAP1 exon 3 (p.Cys170Arg), of likely pathogenic significance. This subject first presented with right writer's cramp at age of 10 years and, subsequently, developed left arm dystonia and an extremely severe left laterocollis, without further spreading to other body districts. Our findings expand the genotypic spectrum of THAP1 and strengthen the association with upper body involvement, including the cranial and cervical districts that are usually spared in DYT1‐PTD. © 2009 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Latium</li><li>Lombardie</li></region><settlement><li>Milan</li><li>Rome</li></settlement></list><tree><country name="Italie"><region name="Latium"><name sortKey="Bonetti, Monica" sort="Bonetti, Monica" uniqKey="Bonetti M" first="Monica" last="Bonetti">Monica Bonetti</name></region><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><name sortKey="Barzaghi, Chiara" sort="Barzaghi, Chiara" uniqKey="Barzaghi C" first="Chiara" last="Barzaghi">Chiara Barzaghi</name><name sortKey="Bellacchio, Emanuele" sort="Bellacchio, Emanuele" uniqKey="Bellacchio E" first="Emanuele" last="Bellacchio">Emanuele Bellacchio</name><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name><name sortKey="Giovanetti, Alessandro" sort="Giovanetti, Alessandro" uniqKey="Giovanetti A" first="Alessandro" last="Giovanetti">Alessandro Giovanetti</name><name sortKey="Ialongo, Tamara" sort="Ialongo, Tamara" uniqKey="Ialongo T" first="Tamara" last="Ialongo">Tamara Ialongo</name><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name><name sortKey="Petracca, Martina" sort="Petracca, Martina" uniqKey="Petracca M" first="Martina" last="Petracca">Martina Petracca</name><name sortKey="Piano, Carla" sort="Piano, Carla" uniqKey="Piano C" first="Carla" last="Piano">Carla Piano</name><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002197 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002197 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:BAD3A81A0EB7559C9B88842083374D02512F2541
|texte= Mutation screening of the DYT6/THAP1 gene in Italy
}}
| This area was generated with Dilib version V0.6.23. |  |