-
1
-
-
0021816202
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
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