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Results 1 - 10 of 21 for Dystonia 31
  1. Hypermanganesemia with dystonia 
    ... D, Bitner-Glindzicz M, Clayton PT. Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder. J Inherit Metab Dis. 2008 Apr;31(2):151-63. doi: 10.1007/s10545-008- ...
    https://medlineplus.gov/.../hypermanganesemia-with-dystonia - Genetics
  2. Task-specific focal dystonia 
    ... Citation on PubMed Altenmuller E, Jabusch HC. Focal dystonia in musicians: phenomenology, pathophysiology and triggering factors. Eur J Neurol. 2010 Jul;17 Suppl 1:31-6. doi: 10.1111/j.1468-1331.2010. ...
    https://medlineplus.gov/.../condition/task-specific-focal-dystonia - Genetics
  3. Dystonia 16 
    ... of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT. J Biol Chem. 2015 Sep 11;290(37):22543-57. doi: 10.1074/jbc.M115.669408. Epub 2015 Jul 31. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/dystonia-16 - Genetics
  4. Partington syndrome 
    ... into the molecular pathology. Hum Mutat. 2010 Aug;31(8):889-900. doi: 10.1002/humu.21288. ...
    https://medlineplus.gov/genetics/condition/partington-syndrome - Genetics
  5. Autosomal dominant nocturnal frontal lobe epilepsy 
    ... cases. Brain. 1999 Jun;122 ( Pt 6):1017-31. doi: 10.1093/brain/122.6.1017. Citation ...
    https://medlineplus.gov/...-dominant-nocturnal-frontal-lobe-epilepsy - Genetics
  6. Fatty acid hydroxylase-associated neurodegeneration 
    ... hereditary spastic paraplegia (SPG35). Hum Mutat. 2010 Apr;31(4):E1251-60. doi: ... with spastic paraparesis and dystonia. Am J Hum Genet. 2008 Nov;83(5): ...
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
  7. GLUT1 deficiency syndrome 
    ... of GLUT1-deficiency syndrome. Brain Dev. 2009 Aug;31(7):545-52. doi: 10.1016/j.braindev. ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  8. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
    ... of corpus callosum. Metab Brain Dis. 2016 Jun;31(3):717-21. doi: 10.1007/s11011-016- ... Homozygous EARS2 Mutation. J Child Neurol. 2016 Jun;31(7):938-41. doi: 10.1177/0883073816630087. Epub ...
    https://medlineplus.gov/...nd-brainstem-involvement-and-high-lactate - Genetics
  9. Brain-lung-thyroid syndrome 
    ... doi: 10.1093/hmg/ddp162. Epub 2009 Mar 31. Citation on PubMed Gras D, Jonard L, Roze ... Brain-Lung-Thyroid Syndrome". Hum Mutat. 2010 Feb;31(2):E1146-62. doi: 10.1002/humu.21183. ...
    https://medlineplus.gov/.../condition/brain-lung-thyroid-syndrome - Genetics
  10. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... CoA ligase. J Inherit Metab Dis. 2008 Apr;31(2):226-9. doi: 10.1007/s10545-008- ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
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