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Results 11 - 20 of 69 for Dystonia 9
  1. Hypermanganesemia with dystonia 
    ... Bonifati V. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet. 2012 Mar 9;90(3):467-77. doi: 10.1016/j. ...
    https://medlineplus.gov/.../hypermanganesemia-with-dystonia - Genetics
  2. SLC30A10 gene 
    ... Bonifati V. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet. 2012 Mar 9;90(3):467-77. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/slc30a10 - Genetics
  3. Task-specific focal dystonia 
    ... related dystonia: a novel presentation of task-specific dystonia. J Neurol. 2012 Oct;259(10):2221-2. doi: 10.1007/s00415-012-6519-1. Epub 2012 May 9. No abstract available. Citation on PubMed Torres-Russotto ...
    https://medlineplus.gov/.../condition/task-specific-focal-dystonia - Genetics
  4. 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)70075-9. No abstract available. Citation on PubMed Vaughn LS, ...
    https://medlineplus.gov/genetics/condition/dystonia-16 - Genetics
  5. PRKRA gene 
    ... of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in ... Front Biol (Beijing). 2014 Oct;9(5):382-388. doi: 10.1007/s11515-014- ...
    https://medlineplus.gov/genetics/gene/prkra - Genetics
  6. GCH1 gene 
    ... 1007/s10545-009-1067-2. Epub 2009 Feb 9. Erratum In: J Inherit Metab Dis. 2009 Jun;32(3):457. Citation on PubMed Muller U, Steinberger D, Topka H. Mutations of GCH1 in Dopa-responsive dystonia. J Neural Transm (Vienna). 2002 Mar;109(3): ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  7. ALS2 gene 
    ... j.ejpn.2013.09.009. Epub 2013 Oct 9. Citation on PubMed Sheerin UM, Schneider SA, Carr L, Deuschl G, Hopfner F, Stamelou M, Wood NW, Bhatia KP. ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology. 2014 Mar 25;82(12):1065-7. ...
    https://medlineplus.gov/genetics/gene/als2 - Genetics
  8. Sepiapterin reductase deficiency 
    ... pattern of involuntary, sustained muscle contractions known as dystonia. Other movement problems can include muscle stiffness (spasticity), ... signs and symptoms of the condition. Dopa-responsive dystonia due to sepiapterin reductase deficiency SPR deficiency Genetic ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
  9. Benign essential blepharospasm 
    ... the eyelids. This condition is a type of dystonia, which is a group of movement disorders that ... people with benign essential blepharospasm, the symptoms of dystonia spread beyond the eyes to affect other facial ...
    https://medlineplus.gov/.../condition/benign-essential-blepharospasm - Genetics
  10. Autosomal dominant nocturnal frontal lobe epilepsy 
    ... acetylcholine receptor (nAChR)". Eur J Paediatr Neurol. 2005;9(2):59-66. doi: 10.1016/j.ejpn. ...
    https://medlineplus.gov/...-dominant-nocturnal-frontal-lobe-epilepsy - Genetics
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