Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

Identifieur interne : 002795 ( Main/Exploration ); précédent : 002794; suivant : 002796

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Whispering 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.

RBID : ISTEX:F6A00D29EF6786FF6A04D8706628D149643C161B

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

Url:

• https://api.istex.fr/document/F6A00D29EF6786FF6A04D8706628D149643C161B/fulltext/pdf

DOI: 10.1002/ana.23829

Affiliations:

• Allemagne, Australie, Canada, Pays-Bas, Serbie, États-Unis
• District de Cologne, District de Kassel, Groningue (province), Hambourg, Hesse (Land), Hollande-Méridionale, Hollande-Septentrionale, Nouvelle-Galles du Sud, Ontario, Rhénanie-du-Nord-Westphalie, État de New York
• Amsterdam, Bonn, Cassel (Hesse), Groningue, Hambourg, Leyde, Sydney, Toronto
• Université de Toronto

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