نتایج جستجو برای: dyt6 dystonia
تعداد نتایج: 6616 فیلتر نتایج به سال:
Human THAP1 is the prototype of a large family of cellular factors sharing an original THAP zinc-finger motif responsible for DNA binding. Human THAP1 regulates endothelial cell proliferation and G1/S cell-cycle progression, through modulation of pRb/E2F cell-cycle target genes including rrm1. Recently, mutations in THAP1 have been found to cause DYT6 primary torsion dystonia, a human neurologi...
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures. Several causative genes have been identified, but their genetic bases still remain elusive. Primary Torsion Dystonias (PTDs), in which dystonia is the only clinical sign, can be inherited in a monogenic fashion, and...
Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant fashion with reduced penetrance. The DYT1 gene on chromosome 9q34 is responsible for most cases of early limb-onset PTD. Two other PTD loci have been mapped to date. The DYT6 locus on chromosome 8 is associated with a mixed phenotype, whereas the D...
Dystonias represent a group of heterogeneous neurological conditions characterized by sustained simultaneous co-contraction of agonist and antagonist muscles in one or more sites of the body. The resultant repetitive movements and abnormal postures can affect gait and execution of voluntary movements. The pathophysiological mechanisms of dystonia remain to be fully elucidated. Not long ago, dys...
after parkinsonism, dystonia is the movement disorder most commonly encountered in movement disorder clinics. it is defined as a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. dystonia is classified in three ways: age at onset, body distribution of abnormal movements, and etiology. the etiologic classification identifies fou...
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