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Volumn 73, Issue 4, 2013, Pages 537-545

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

(29)  Lohmann, Katja a   Wilcox, Robert A b   Winkler, Susen a   Ramirez, Alfredo a,c   Rakovic, Aleksandar a   Park, Jin Sung d   Arns, Björn a   Lohnau, Thora a   Groen, Justus e   Kasten, Meike a   Brüggemann, Norbert a   Hagenah, Johann a   Schmidt, Alexander a   Kaiser, Frank J a   Kumar, Kishore R a,d   Zschiedrich, Katja a   Alvarez Fischer, Daniel a   Altenmüller, Eckart f   Ferbert, Andreas g   Lang, Anthony E h   more..


Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; BETA TUBULIN; BETA TUBULIN 4; GLYCINE; MESSENGER RNA; THREONINE; UNCLASSIFIED DRUG;

EID: 84876874253     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.23829     Document Type: Article
Times cited : (126)

References (23)
  • 1
    • 0021816202 scopus 로고
    • Hereditary whispering dysphonia
    • Parker N,. Hereditary whispering dysphonia. J Neurol Neurosurg Psychiatry 1985; 48: 218-224.
    • (1985) J Neurol Neurosurg Psychiatry , vol.48 , pp. 218-224
    • Parker, N.1
  • 2
    • 81955164822 scopus 로고    scopus 로고
    • Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal
    • Wilcox RA, Winkler S, Lohmann K, Klein C,. Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal. Mov Disord 2011; 26: 2404-2408.
    • (2011) Mov Disord , vol.26 , pp. 2404-2408
    • Wilcox, R.A.1    Winkler, S.2    Lohmann, K.3    Klein, C.4
  • 3
    • 0027401233 scopus 로고
    • Evidence for locus heterogeneity in autosomal dominant torsion dystonia
    • Ahmad F, Davis MB, Waddy HM, et al. Evidence for locus heterogeneity in autosomal dominant torsion dystonia. Genomics 1993; 15: 9-12.
    • (1993) Genomics , vol.15 , pp. 9-12
    • Ahmad, F.1    Davis, M.B.2    Waddy, H.M.3
  • 4
    • 64749086402 scopus 로고    scopus 로고
    • Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: A genetic screening study
    • Djarmati A, Schneider SA, Lohmann K, et al. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009; 8: 447-452.
    • (2009) Lancet Neurol , vol.8 , pp. 447-452
    • Djarmati, A.1    Schneider, S.A.2    Lohmann, K.3
  • 6
    • 79960836347 scopus 로고    scopus 로고
    • Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism
    • Park JS, Mehta P, Cooper AA, et al. Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. Hum Mutat 2011; 32: 956-964.
    • (2011) Hum Mutat , vol.32 , pp. 956-964
    • Park, J.S.1    Mehta, P.2    Cooper, A.A.3
  • 7
    • 84875619478 scopus 로고    scopus 로고
    • Cohort profile: A population-based cohort to study non-motor symptoms in parkinsonism (EPIPARK)
    • Dec 19. [Epub ahead of print]; doi: 10.1093/ije/dys202
    • Kasten M, Hagenah J, Graf J, et al. Cohort profile: a population-based cohort to study non-motor symptoms in parkinsonism (EPIPARK). Int J Epidemiol. 2012 Dec 19. [Epub ahead of print]; doi: 10.1093/ije/dys202.
    • (2012) Int J Epidemiol
    • Kasten, M.1    Hagenah, J.2    Graf, J.3
  • 8
    • 24144493144 scopus 로고    scopus 로고
    • EasyLINKAGE-Plus - Automated linkage analyses using large-scale SNP data
    • Hoffmann K, Lindner TH,. easyLINKAGE-Plus-automated linkage analyses using large-scale SNP data. Bioinformatics 2005; 21: 3565-3567.
    • (2005) Bioinformatics , vol.21 , pp. 3565-3567
    • Hoffmann, K.1    Lindner, T.H.2
  • 9
    • 0024291284 scopus 로고
    • Autoregulated instability of beta-tubulin mRNAs by recognition of the nascent amino terminus of beta-tubulin
    • Yen TJ, Machlin PS, Cleveland DW,. Autoregulated instability of beta-tubulin mRNAs by recognition of the nascent amino terminus of beta-tubulin. Nature 1988; 334: 580-585.
    • (1988) Nature , vol.334 , pp. 580-585
    • Yen, T.J.1    MacHlin, P.S.2    Cleveland, D.W.3
  • 10
    • 84860811822 scopus 로고    scopus 로고
    • Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples
    • Marras C, Lohmann K, Lang A, Klein C,. Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples. Neurology 2012; 78: 1016-1024.
    • (2012) Neurology , vol.78 , pp. 1016-1024
    • Marras, C.1    Lohmann, K.2    Lang, A.3    Klein, C.4
  • 12
    • 11144358198 scopus 로고    scopus 로고
    • A gene atlas of the mouse and human protein-encoding transcriptomes
    • Su AI, Wiltshire T, Batalov S, et al. A gene atlas of the mouse and human protein-encoding transcriptomes. Proc Natl Acad Sci U S A 2004; 101: 6062-6067.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 6062-6067
    • Su, A.I.1    Wiltshire, T.2    Batalov, S.3
  • 13
    • 77951136560 scopus 로고    scopus 로고
    • Tumoral and tissue-specific expression of the major human beta-tubulin isotypes
    • Leandro-Garcia LJ, Leskela S, Landa I, et al. Tumoral and tissue-specific expression of the major human beta-tubulin isotypes. Cytoskeleton (Hoboken) 2010; 67: 214-223.
    • (2010) Cytoskeleton (Hoboken) , vol.67 , pp. 214-223
    • Leandro-Garcia, L.J.1    Leskela, S.2    Landa, I.3
  • 14
    • 1642433201 scopus 로고    scopus 로고
    • Mislocalization to the nuclear envelope: An effect of the dystonia-causing torsinA mutation
    • Goodchild RE, Dauer WT,. Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc Natl Acad Sci U S A 2004; 101: 847-852.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 847-852
    • Goodchild, R.E.1    Dauer, W.T.2
  • 15
    • 56349160730 scopus 로고    scopus 로고
    • TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton
    • Nery FC, Zeng J, Niland BP, et al. TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. J Cell Sci 2008; 121: 3476-3486.
    • (2008) J Cell Sci , vol.121 , pp. 3476-3486
    • Nery, F.C.1    Zeng, J.2    Niland, B.P.3
  • 16
    • 78149479301 scopus 로고    scopus 로고
    • The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)
    • Kaiser FJ, Osmanoric A, Rakovic A, et al. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 2010; 68: 554-559.
    • (2010) Ann Neurol , vol.68 , pp. 554-559
    • Kaiser, F.J.1    Osmanoric, A.2    Rakovic, A.3
  • 17
    • 78149483955 scopus 로고    scopus 로고
    • Direct interaction between causative genes of DYT1 and DYT6 primary dystonia
    • Gavarini S, Cayrol C, Fuchs T, et al. Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann Neurol 2010; 68: 549-553.
    • (2010) Ann Neurol , vol.68 , pp. 549-553
    • Gavarini, S.1    Cayrol, C.2    Fuchs, T.3
  • 18
    • 0028151448 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase i gene
    • Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994; 8: 236-242.
    • (1994) Nat Genet , vol.8 , pp. 236-242
    • Ichinose, H.1    Ohye, T.2    Takahashi, E.3
  • 19
    • 2442548666 scopus 로고    scopus 로고
    • The early onset dystonia protein torsinA interacts with kinesin light chain 1
    • Kamm C, Boston H, Hewett J, et al. The early onset dystonia protein torsinA interacts with kinesin light chain 1. J Biol Chem 2004; 279: 19882-19892.
    • (2004) J Biol Chem , vol.279 , pp. 19882-19892
    • Kamm, C.1    Boston, H.2    Hewett, J.3
  • 20
    • 77954745047 scopus 로고    scopus 로고
    • Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: New support for the 'multi-tubulin' hypothesis
    • Tischfield MA, Engle EC,. Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis. Biosci Rep 2010; 30: 319-330.
    • (2010) Biosci Rep , vol.30 , pp. 319-330
    • Tischfield, M.A.1    Engle, E.C.2
  • 21
    • 73149108817 scopus 로고    scopus 로고
    • MicroTUB(B3)ules and brain development
    • Singh KK, Tsai LH,. MicroTUB(B3)ules and brain development. Cell 2010; 140: 30-32.
    • (2010) Cell , vol.140 , pp. 30-32
    • Singh, K.K.1    Tsai, L.H.2
  • 22
    • 73349096922 scopus 로고    scopus 로고
    • Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
    • Tischfield MA, Baris HN, Wu C, et al. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 2010; 140: 74-87.
    • (2010) Cell , vol.140 , pp. 74-87
    • Tischfield, M.A.1    Baris, H.N.2    Wu, C.3
  • 23
    • 84867198044 scopus 로고    scopus 로고
    • Decreased expression of synapse-related genes and loss of synapses in major depressive disorder
    • Kang HJ, Voleti B, Hajszan T, et al. Decreased expression of synapse-related genes and loss of synapses in major depressive disorder. Nat Med 2012; 18: 1413-1417.
    • (2012) Nat Med , vol.18 , pp. 1413-1417
    • Kang, H.J.1    Voleti, B.2    Hajszan, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.