Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
Identifieur interne : 000949 ( Istex/Curation ); précédent : 000948; suivant : 000950Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
Auteurs : Katja Lohmann [Allemagne] ; Robert A. Wilcox [Australie] ; Susen Winkler [Allemagne] ; Alfredo Ramirez [Allemagne] ; Aleksandar Rakovic [Allemagne] ; Jin-Sung Park [Australie] ; Björn Arns [Allemagne] ; Thora Lohnau [Allemagne] ; Justus Groen [Pays-Bas] ; Meike Kasten [Allemagne] ; Norbert Brüggemann [Allemagne] ; Johann Hagenah [Allemagne] ; Alexander Schmidt [Allemagne] ; Frank J. Kaiser [Allemagne] ; Kishore R. Kumar [Allemagne, Australie] ; Katja Zschiedrich [Allemagne] ; Daniel Alvarez-Fischer [Allemagne] ; Eckart Altenmüller [Allemagne] ; Andreas Ferbert [Allemagne] ; Anthony E. Lang [Canada] ; Alexander Münchau [Allemagne] ; Vladimir Kostic [Serbie] ; Kristina Simonyan [États-Unis] ; Marc Agzarian [Australie] ; Laurie J. Ozelius [États-Unis] ; Antonius P. M. Langeveld [Pays-Bas] ; Carolyn M. Sue [Australie] ; Marina A. J. Tijssen [Pays-Bas] ; Christine Klein [Allemagne]Source :
- Annals of Neurology [ 0364-5134 ] ; 2013-04.
Descripteurs français
- Wicri :
- topic : Neurologie.
English descriptors
- KwdEn :
- Abbott laboratories, Abnormal microtubule function, Australian dyt4 family, Australian family, Autoregulated instability, Axon guidance, Body habitus, Boehringer ingelheim, Brain development, Cervical dystonia, Characteristic facies, Control chromosomes, Different cell types, Disease controls, Dot1l, Dysphonia, Dystonia, Dyt4, Dyt4 dystonia, Dyt4 dystonia figure, Dyt4 family, Dyt4 patients, Expression level, Expression levels, Family members, Frequent missense variants, Generalized dystonia, Genome, Genome sequencing, German research foundation, Heterozygous mutation carrier, High penetrance, Hobby horse, Human genetics, Index patient, Kinesin light chain, Levator palpebrae superioris, Linkage, Linkage analysis, Lohmann, Major depressive disorder, Maximum multipoint, Medical research council, Merz pharmaceuticals, Microtubule, Missense, Missense variant, Mrei motif, Mrna, Mutant, Mutant allele, Mutant tubb4, Mutation, Mutation carrier, National health, Nerve conduction studies, Neurol, Neurology, Novel mechanism, Novel mutation, Nuclear envelope, Other mutations, Pharm allergan, Positive family history, Primary torsion dystonia, Proc natl acad, Prominent spasmodic dysphonia, Protein sequence, Quantitative polymerase chain reaction, Reference gene, Right panel, Roche diagnostics, Sanger sequencing, Segmental dystonia, Sequencing, Sinai school, Spasmodic, Spasmodic dysphonia, Standard deviation, Statistical linkage analysis, Strong evidence, Supplementary table, Synkinetic movements, Thin face, Travel expenses, Tubb3 mutations, Tubb4, Tubb4 expression, Tubb4 gene, Tubb4 mutation, Tubb4 mutations, Tubb4 variant, Tubulin arg2gly, Unaffected control, Unaffected family members, Unrelated dystonia patients, Unrelated individuals, Variant.
- Teeft :
- Abbott laboratories, Abnormal microtubule function, Australian dyt4 family, Australian family, Autoregulated instability, Axon guidance, Body habitus, Boehringer ingelheim, Brain development, Cervical dystonia, Characteristic facies, Control chromosomes, Different cell types, Disease controls, Dot1l, Dysphonia, Dystonia, Dyt4, Dyt4 dystonia, Dyt4 dystonia figure, Dyt4 family, Dyt4 patients, Expression level, Expression levels, Family members, Frequent missense variants, Generalized dystonia, Genome, Genome sequencing, German research foundation, Heterozygous mutation carrier, High penetrance, Hobby horse, Human genetics, Index patient, Kinesin light chain, Levator palpebrae superioris, Linkage, Linkage analysis, Lohmann, Major depressive disorder, Maximum multipoint, Medical research council, Merz pharmaceuticals, Microtubule, Missense, Missense variant, Mrei motif, Mrna, Mutant, Mutant allele, Mutant tubb4, Mutation, Mutation carrier, National health, Nerve conduction studies, Neurol, Neurology, Novel mechanism, Novel mutation, Nuclear envelope, Other mutations, Pharm allergan, Positive family history, Primary torsion dystonia, Proc natl acad, Prominent spasmodic dysphonia, Protein sequence, Quantitative polymerase chain reaction, Reference gene, Right panel, Roche diagnostics, Sanger sequencing, Segmental dystonia, Sequencing, Sinai school, Spasmodic, Spasmodic dysphonia, Standard deviation, Statistical linkage analysis, Strong evidence, Supplementary table, Synkinetic movements, Thin face, Travel expenses, Tubb3 mutations, Tubb4, Tubb4 expression, Tubb4 gene, Tubb4 mutation, Tubb4 mutations, Tubb4 variant, Tubulin arg2gly, Unaffected control, Unaffected family members, Unrelated dystonia patients, Unrelated individuals, Variant.
Abstract
A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family.
Url:
DOI: 10.1002/ana.23829
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000949
Links to Exploration step
ISTEX:F6A00D29EF6786FF6A04D8706628D149643C161BLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene</title>
<author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wilcox, Robert A" sort="Wilcox, Robert A" uniqKey="Wilcox R" first="Robert A." last="Wilcox">Robert A. Wilcox</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Flinders Medical Centre, Adelaide, Australia</mods:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neurology, Flinders Medical Centre, Adelaide</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Psychiatry and Psychotherapy, University of Bonn, Bonn</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University of Bonn, Bonn</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rakovic, Aleksandar" sort="Rakovic, Aleksandar" uniqKey="Rakovic A" first="Aleksandar" last="Rakovic">Aleksandar Rakovic</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Park, Jin Ung" sort="Park, Jin Ung" uniqKey="Park J" first="Jin-Sung" last="Park">Jin-Sung Park</name>
<affiliation wicri:level="1"><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Arns, Bjorn" sort="Arns, Bjorn" uniqKey="Arns B" first="Björn" last="Arns">Björn Arns</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Groen, Justus" sort="Groen, Justus" uniqKey="Groen J" first="Justus" last="Groen">Justus Groen</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands</mods:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Neurology, Academic Medical Center, Amsterdam</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kaiser, Frank J" sort="Kaiser, Frank J" uniqKey="Kaiser F" first="Frank J." last="Kaiser">Frank J. Kaiser</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kumar, Kishore R" sort="Kumar, Kishore R" uniqKey="Kumar K" first="Kishore R." last="Kumar">Kishore R. Kumar</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Zschiedrich, Katja" sort="Zschiedrich, Katja" uniqKey="Zschiedrich K" first="Katja" last="Zschiedrich">Katja Zschiedrich</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Alvarez Ischer, Daniel" sort="Alvarez Ischer, Daniel" uniqKey="Alvarez Ischer D" first="Daniel" last="Alvarez-Fischer">Daniel Alvarez-Fischer</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Altenmuller, Eckart" sort="Altenmuller, Eckart" uniqKey="Altenmuller E" first="Eckart" last="Altenmüller">Eckart Altenmüller</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama, and Media, Hanover, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama, and Media, Hanover</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ferbert, Andreas" sort="Ferbert, Andreas" uniqKey="Ferbert A" first="Andreas" last="Ferbert">Andreas Ferbert</name>
<affiliation wicri:level="1"><mods:affiliation>Clinic of Neurology, Kassel School of Medicine, Kassel, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Clinic of Neurology, Kassel School of Medicine, Kassel</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<affiliation wicri:level="1"><mods:affiliation>Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Ontario, Toronto, Canada</mods:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Ontario, Toronto</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University Medical Center Eppendorf, Hamburg, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Medical Center Eppendorf, Hamburg</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</mods:affiliation>
<country xml:lang="fr">Serbie</country>
<wicri:regionArea>Department of Neurology, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Simonyan, Kristina" sort="Simonyan, Kristina" uniqKey="Simonyan K" first="Kristina" last="Simonyan">Kristina Simonyan</name>
<affiliation wicri:level="2"><mods:affiliation>Departments of Neurology and Otolaryngology, Mount Sinai School of Medicine, NY, New York</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Departments of Neurology and Otolaryngology, Mount Sinai School of Medicine, NY</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Agzarian, Marc" sort="Agzarian, Marc" uniqKey="Agzarian M" first="Marc" last="Agzarian">Marc Agzarian</name>
<affiliation wicri:level="1"><mods:affiliation>MRI Unit, Department of Radiology, Flinders Medical Centre, Adelaide, Australia</mods:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>MRI Unit, Department of Radiology, Flinders Medical Centre, Adelaide</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, NY, New York</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, NY</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Langeveld, Antonius P M" sort="Langeveld, Antonius P M" uniqKey="Langeveld A" first="Antonius P. M." last="Langeveld">Antonius P. M. Langeveld</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Otorhinolaryngology, Head and Neck Surgery, Leiden University Medical Center, Leiden, the Netherlands</mods:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Otorhinolaryngology, Head and Neck Surgery, Leiden University Medical Center, Leiden</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M." last="Sue">Carolyn M. Sue</name>
<affiliation wicri:level="1"><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</mods:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>E-mail: christine.klein@neuro.uni-luebeck.de</mods:affiliation>
<country wicri:rule="url">Allemagne</country>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:F6A00D29EF6786FF6A04D8706628D149643C161B</idno>
<date when="2013" year="2013">2013</date>
<idno type="doi">10.1002/ana.23829</idno>
<idno type="url">https://api.istex.fr/document/F6A00D29EF6786FF6A04D8706628D149643C161B/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">000949</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000949</idno>
<idno type="wicri:Area/Istex/Curation">000949</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main">Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the <hi rend="italic">TUBB4</hi>
gene</title>
<author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wilcox, Robert A" sort="Wilcox, Robert A" uniqKey="Wilcox R" first="Robert A." last="Wilcox">Robert A. Wilcox</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Flinders Medical Centre, Adelaide, Australia</mods:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neurology, Flinders Medical Centre, Adelaide</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Psychiatry and Psychotherapy, University of Bonn, Bonn</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University of Bonn, Bonn</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rakovic, Aleksandar" sort="Rakovic, Aleksandar" uniqKey="Rakovic A" first="Aleksandar" last="Rakovic">Aleksandar Rakovic</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Park, Jin Ung" sort="Park, Jin Ung" uniqKey="Park J" first="Jin-Sung" last="Park">Jin-Sung Park</name>
<affiliation wicri:level="1"><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Arns, Bjorn" sort="Arns, Bjorn" uniqKey="Arns B" first="Björn" last="Arns">Björn Arns</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Groen, Justus" sort="Groen, Justus" uniqKey="Groen J" first="Justus" last="Groen">Justus Groen</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands</mods:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Neurology, Academic Medical Center, Amsterdam</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kaiser, Frank J" sort="Kaiser, Frank J" uniqKey="Kaiser F" first="Frank J." last="Kaiser">Frank J. Kaiser</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kumar, Kishore R" sort="Kumar, Kishore R" uniqKey="Kumar K" first="Kishore R." last="Kumar">Kishore R. Kumar</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Zschiedrich, Katja" sort="Zschiedrich, Katja" uniqKey="Zschiedrich K" first="Katja" last="Zschiedrich">Katja Zschiedrich</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Alvarez Ischer, Daniel" sort="Alvarez Ischer, Daniel" uniqKey="Alvarez Ischer D" first="Daniel" last="Alvarez-Fischer">Daniel Alvarez-Fischer</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Altenmuller, Eckart" sort="Altenmuller, Eckart" uniqKey="Altenmuller E" first="Eckart" last="Altenmüller">Eckart Altenmüller</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama, and Media, Hanover, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama, and Media, Hanover</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ferbert, Andreas" sort="Ferbert, Andreas" uniqKey="Ferbert A" first="Andreas" last="Ferbert">Andreas Ferbert</name>
<affiliation wicri:level="1"><mods:affiliation>Clinic of Neurology, Kassel School of Medicine, Kassel, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Clinic of Neurology, Kassel School of Medicine, Kassel</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<affiliation wicri:level="1"><mods:affiliation>Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Ontario, Toronto, Canada</mods:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Ontario, Toronto</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University Medical Center Eppendorf, Hamburg, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Medical Center Eppendorf, Hamburg</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</mods:affiliation>
<country xml:lang="fr">Serbie</country>
<wicri:regionArea>Department of Neurology, School of Medicine, University of Belgrade, Belgrade</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Simonyan, Kristina" sort="Simonyan, Kristina" uniqKey="Simonyan K" first="Kristina" last="Simonyan">Kristina Simonyan</name>
<affiliation wicri:level="2"><mods:affiliation>Departments of Neurology and Otolaryngology, Mount Sinai School of Medicine, NY, New York</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Departments of Neurology and Otolaryngology, Mount Sinai School of Medicine, NY</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Agzarian, Marc" sort="Agzarian, Marc" uniqKey="Agzarian M" first="Marc" last="Agzarian">Marc Agzarian</name>
<affiliation wicri:level="1"><mods:affiliation>MRI Unit, Department of Radiology, Flinders Medical Centre, Adelaide, Australia</mods:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>MRI Unit, Department of Radiology, Flinders Medical Centre, Adelaide</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, NY, New York</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, NY</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Langeveld, Antonius P M" sort="Langeveld, Antonius P M" uniqKey="Langeveld A" first="Antonius P. M." last="Langeveld">Antonius P. M. Langeveld</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Otorhinolaryngology, Head and Neck Surgery, Leiden University Medical Center, Leiden, the Netherlands</mods:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Otorhinolaryngology, Head and Neck Surgery, Leiden University Medical Center, Leiden</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M." last="Sue">Carolyn M. Sue</name>
<affiliation wicri:level="1"><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</mods:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>E-mail: christine.klein@neuro.uni-luebeck.de</mods:affiliation>
<country wicri:rule="url">Allemagne</country>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j" type="main">Annals of Neurology</title>
<title level="j" type="alt">ANNALS OF NEUROLOGY</title>
<idno type="ISSN">0364-5134</idno>
<idno type="eISSN">1531-8249</idno>
<imprint><biblScope unit="vol">73</biblScope>
<biblScope unit="issue">4</biblScope>
<biblScope unit="page" from="537">537</biblScope>
<biblScope unit="page" to="545">545</biblScope>
<biblScope unit="page-count">9</biblScope>
<date type="published" when="2013-04">2013-04</date>
</imprint>
<idno type="ISSN">0364-5134</idno>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0364-5134</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abbott laboratories</term>
<term>Abnormal microtubule function</term>
<term>Australian dyt4 family</term>
<term>Australian family</term>
<term>Autoregulated instability</term>
<term>Axon guidance</term>
<term>Body habitus</term>
<term>Boehringer ingelheim</term>
<term>Brain development</term>
<term>Cervical dystonia</term>
<term>Characteristic facies</term>
<term>Control chromosomes</term>
<term>Different cell types</term>
<term>Disease controls</term>
<term>Dot1l</term>
<term>Dysphonia</term>
<term>Dystonia</term>
<term>Dyt4</term>
<term>Dyt4 dystonia</term>
<term>Dyt4 dystonia figure</term>
<term>Dyt4 family</term>
<term>Dyt4 patients</term>
<term>Expression level</term>
<term>Expression levels</term>
<term>Family members</term>
<term>Frequent missense variants</term>
<term>Generalized dystonia</term>
<term>Genome</term>
<term>Genome sequencing</term>
<term>German research foundation</term>
<term>Heterozygous mutation carrier</term>
<term>High penetrance</term>
<term>Hobby horse</term>
<term>Human genetics</term>
<term>Index patient</term>
<term>Kinesin light chain</term>
<term>Levator palpebrae superioris</term>
<term>Linkage</term>
<term>Linkage analysis</term>
<term>Lohmann</term>
<term>Major depressive disorder</term>
<term>Maximum multipoint</term>
<term>Medical research council</term>
<term>Merz pharmaceuticals</term>
<term>Microtubule</term>
<term>Missense</term>
<term>Missense variant</term>
<term>Mrei motif</term>
<term>Mrna</term>
<term>Mutant</term>
<term>Mutant allele</term>
<term>Mutant tubb4</term>
<term>Mutation</term>
<term>Mutation carrier</term>
<term>National health</term>
<term>Nerve conduction studies</term>
<term>Neurol</term>
<term>Neurology</term>
<term>Novel mechanism</term>
<term>Novel mutation</term>
<term>Nuclear envelope</term>
<term>Other mutations</term>
<term>Pharm allergan</term>
<term>Positive family history</term>
<term>Primary torsion dystonia</term>
<term>Proc natl acad</term>
<term>Prominent spasmodic dysphonia</term>
<term>Protein sequence</term>
<term>Quantitative polymerase chain reaction</term>
<term>Reference gene</term>
<term>Right panel</term>
<term>Roche diagnostics</term>
<term>Sanger sequencing</term>
<term>Segmental dystonia</term>
<term>Sequencing</term>
<term>Sinai school</term>
<term>Spasmodic</term>
<term>Spasmodic dysphonia</term>
<term>Standard deviation</term>
<term>Statistical linkage analysis</term>
<term>Strong evidence</term>
<term>Supplementary table</term>
<term>Synkinetic movements</term>
<term>Thin face</term>
<term>Travel expenses</term>
<term>Tubb3 mutations</term>
<term>Tubb4</term>
<term>Tubb4 expression</term>
<term>Tubb4 gene</term>
<term>Tubb4 mutation</term>
<term>Tubb4 mutations</term>
<term>Tubb4 variant</term>
<term>Tubulin arg2gly</term>
<term>Unaffected control</term>
<term>Unaffected family members</term>
<term>Unrelated dystonia patients</term>
<term>Unrelated individuals</term>
<term>Variant</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en"><term>Abbott laboratories</term>
<term>Abnormal microtubule function</term>
<term>Australian dyt4 family</term>
<term>Australian family</term>
<term>Autoregulated instability</term>
<term>Axon guidance</term>
<term>Body habitus</term>
<term>Boehringer ingelheim</term>
<term>Brain development</term>
<term>Cervical dystonia</term>
<term>Characteristic facies</term>
<term>Control chromosomes</term>
<term>Different cell types</term>
<term>Disease controls</term>
<term>Dot1l</term>
<term>Dysphonia</term>
<term>Dystonia</term>
<term>Dyt4</term>
<term>Dyt4 dystonia</term>
<term>Dyt4 dystonia figure</term>
<term>Dyt4 family</term>
<term>Dyt4 patients</term>
<term>Expression level</term>
<term>Expression levels</term>
<term>Family members</term>
<term>Frequent missense variants</term>
<term>Generalized dystonia</term>
<term>Genome</term>
<term>Genome sequencing</term>
<term>German research foundation</term>
<term>Heterozygous mutation carrier</term>
<term>High penetrance</term>
<term>Hobby horse</term>
<term>Human genetics</term>
<term>Index patient</term>
<term>Kinesin light chain</term>
<term>Levator palpebrae superioris</term>
<term>Linkage</term>
<term>Linkage analysis</term>
<term>Lohmann</term>
<term>Major depressive disorder</term>
<term>Maximum multipoint</term>
<term>Medical research council</term>
<term>Merz pharmaceuticals</term>
<term>Microtubule</term>
<term>Missense</term>
<term>Missense variant</term>
<term>Mrei motif</term>
<term>Mrna</term>
<term>Mutant</term>
<term>Mutant allele</term>
<term>Mutant tubb4</term>
<term>Mutation</term>
<term>Mutation carrier</term>
<term>National health</term>
<term>Nerve conduction studies</term>
<term>Neurol</term>
<term>Neurology</term>
<term>Novel mechanism</term>
<term>Novel mutation</term>
<term>Nuclear envelope</term>
<term>Other mutations</term>
<term>Pharm allergan</term>
<term>Positive family history</term>
<term>Primary torsion dystonia</term>
<term>Proc natl acad</term>
<term>Prominent spasmodic dysphonia</term>
<term>Protein sequence</term>
<term>Quantitative polymerase chain reaction</term>
<term>Reference gene</term>
<term>Right panel</term>
<term>Roche diagnostics</term>
<term>Sanger sequencing</term>
<term>Segmental dystonia</term>
<term>Sequencing</term>
<term>Sinai school</term>
<term>Spasmodic</term>
<term>Spasmodic dysphonia</term>
<term>Standard deviation</term>
<term>Statistical linkage analysis</term>
<term>Strong evidence</term>
<term>Supplementary table</term>
<term>Synkinetic movements</term>
<term>Thin face</term>
<term>Travel expenses</term>
<term>Tubb3 mutations</term>
<term>Tubb4</term>
<term>Tubb4 expression</term>
<term>Tubb4 gene</term>
<term>Tubb4 mutation</term>
<term>Tubb4 mutations</term>
<term>Tubb4 variant</term>
<term>Tubulin arg2gly</term>
<term>Unaffected control</term>
<term>Unaffected family members</term>
<term>Unrelated dystonia patients</term>
<term>Unrelated individuals</term>
<term>Variant</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Neurologie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract">A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family.</div>
</front>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/EdenteV1/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000949 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 000949 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= EdenteV1 |flux= Istex |étape= Curation |type= RBID |clé= ISTEX:F6A00D29EF6786FF6A04D8706628D149643C161B |texte= Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene }}
This area was generated with Dilib version V0.6.33. |