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Results 1 - 7 of 7 for Torsion dystonia 6
  1. ... mixed type Primary dystonia, DYT6 type THAP1 dystonia Torsion dystonia 6 Genetic Testing Registry: Torsion dystonia 6 Primary dystonia, DYT6 type National Organization for Rare ...
  2. ... group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts.Most of the THAP1 gene mutations that cause dystonia 6 change single protein building blocks (amino acids) in ...
  3. ... for Rare Disorders (NORD) ClinicalTrials.gov ... A. Phenomenology of "Lubag" or X-linked dystonia-parkinsonism. Mov Disord. 2002 Nov;17(6):1271-7. doi: 10.1002/mds.10271. Citation ...
  4. ... National Organization for Rare Disorders (NORD) DYSTONIA 1, TORSION, ... doi: 10.1002/mds.25475. Epub 2013 May 6. Citation on PubMed Artusi CA, Dwivedi A, Romagnolo ...
  5. ... patients. J Neurol Neurosurg Psychiatry. 1988 Jun;51(6):767-72. doi: 10.1136/jnnp.51.6.767. Citation on PubMed or Free article on ...
  6. ... AJ, Gusella JF, Breakefield XO. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat ... Mechanism for Dystonia. Neuron. 2016 Dec 21;92(6):1238-1251. doi: 10.1016/j.neuron.2016. ...
  7. ... hypomyelination like other TUBB4A gene mutations. beta-5 dystonia 4, torsion (autosomal dominant) DYT4 TUBB4 tubulin beta-4 chain ... hereditary spastic paraplegia. Mov Disord. 2015 May;30(6):854-8. doi: 10.1002/mds.26196. Epub ...