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Results 1 - 10 of 58 for Dystonia 5
  1. Dopa-responsive dystonia 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  2. Dystonia 6 
    ... 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) ...
    https://medlineplus.gov/genetics/condition/dystonia-6 - Genetics
  3. Infantile neuroaxonal dystrophy 
    ... mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. PLoS One. 2010 Sep 23;5(9):e12897. doi: 10.1371/journal.pone.0012897. ...
    https://medlineplus.gov/.../infantile-neuroaxonal-dystrophy - Genetics
  4. Fatty acid hydroxylase-associated neurodegeneration 
    ... 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. ...
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
  5. Dystonia 16 
    ... frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. Lancet Neurol. 2008 May;7(5):380-1. doi: 10.1016/S1474-4422(08) ...
    https://medlineplus.gov/genetics/condition/dystonia-16 - Genetics
  6. Benign essential blepharospasm 
    ... A, Hallett M. Do primary adult-onset focal dystonias share aetiological factors? Brain. 2007 May;130(Pt 5):1183-93. doi: 10.1093/brain/awl355. Epub ...
    https://medlineplus.gov/.../condition/benign-essential-blepharospasm - Genetics
  7. Hypermanganesemia with dystonia 
    ... Ibrahim S, Tuschl K, Mills P. Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. Brain Dev. 2016 Oct;38(9):862-5. doi: 10.1016/j.braindev.2016.04.005. ...
    https://medlineplus.gov/.../hypermanganesemia-with-dystonia - Genetics
  8. Dopamine transporter deficiency syndrome 
    ... INFANTILE-ONSET; PKDYS1 PubMed Blackstone C. Infantile parkinsonism-dystonia due to dopamine transporter gene mutations: another genetic twist. Lancet Neurol. 2011 Jan;10(1):24-5. doi: 10.1016/S1474-4422(10)70280-5. ...
    https://medlineplus.gov/.../dopamine-transporter-deficiency-syndrome - Genetics
  9. Rapid-onset dystonia parkinsonism 
    ... Barton DE, King MD, Webb DW. Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred. Neurology. 2000 Oct 10;55(7):991-5. doi: 10.1212/wnl.55.7.991. Citation ...
    https://medlineplus.gov/.../rapid-onset-dystonia-parkinsonism - Genetics
  10. Deafness-dystonia-optic neuronopathy syndrome 
    ... Curran SP, Tranebjaerg L, Koehler CM. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet. 2002 Mar 1;11(5):477-86. doi: 10.1093/hmg/11.5. ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
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