Results 1 -
10
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98
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Dystonia 5
- ... commonly, an autosomal dominant pattern of inheritance. DRD Dystonia 5, dopa-responsive type Hereditary progressive dystonia with marked ... due to sepiapterin reductase deficiency Genetic Testing Registry: Dystonia 5 Genetic Testing Registry: Autosomal recessive DOPA responsive dystonia ...
- ... cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5). Chang Gung Med J. 2009 Jan- ...
- ... cause hypomyelination like other TUBB4A gene mutations. beta-5 dystonia 4, torsion (autosomal dominant) DYT4 TUBB4 tubulin beta-4 chain tubulin beta-4A chain isoform 1 tubulin beta-4A chain isoform 2 tubulin beta-4A chain isoform 3 tubulin beta-4A chain isoform 4 tubulin, beta 4 tubulin, beta, 5 ... PubMed TUBULIN, BETA-4A; TUBB4A ...
- ... gene (SPR) in a patient with dopa-responsive dystonia. Neurogenetics. 2004 Sep;5(3):187-90. doi: 10.1007/s10048-004- ...
- ... R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol. 2009 May;8(5):441-6. doi: 10.1016/S1474-4422(09) ... Klein C. Mutations in THAP1 (DYT6) and generalised dystonia with prominent ... study. Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09) ...
- ... R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol. 2009 May;8(5):441-6. doi: 10.1016/S1474-4422(09) ... Klein C. Mutations in THAP1 (DYT6) and generalised dystonia with prominent ... study. Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09) ...
- ... mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. PLoS One. 2010 Sep 23;5(9):e12897. doi: 10.1371/journal.pone.0012897. ...
- ... mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. PLoS One. 2010 Sep 23;5(9):e12897. doi: 10.1371/journal.pone.0012897. ...
- ... are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet. 2008 Nov;83(5):643-8. doi: 10.1016/j.ajhg.2008. ...
- ... are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet. 2008 Nov;83(5):643-8. doi: 10.1016/j.ajhg.2008. ...