A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm
暂无分享,去创建一个
K. Bhatia | K. Chaudhuri | A. Misbahuddin | M. Placzek | N. Wood | K. Bhatia | T. Warner | Kallol Ray Chaudhuri | Nicholas W. Wood | Thomas T. Warner | K. Chaudhuri
[1] C. Marsden,et al. Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients. , 1974, Brain : a journal of neurology.
[2] C. Marsden,et al. Tardive dystonia , 1982, Neurology.
[3] R. Tyndale,et al. The human dopamine D5 receptor gene: cloning and characterization of the 5'-flanking and promoter region. , 1995, Biochemistry.
[4] M. A. Basso,et al. Animal model explains the origins of the cranial dystonia benign essential blepharospasm. , 1997, Journal of neurophysiology.
[5] N. Risch,et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein , 1997, Nature Genetics.
[6] J. Penney,et al. Expression of the early‐onset torsion dystonia gene (DYT1) in human brain , 1998, Annals of neurology.
[7] S. Kish,et al. Dopa‐responsive dystonia: Recent advances and remaining issues to be addressed , 1999, Movement disorders : official journal of the Movement Disorder Society.
[8] S Fahn,et al. Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[9] M. Brin,et al. TorsinA accumulation in Lewy bodies in sporadic Parkinson’s disease , 2000, Brain Research.
[10] B. Cravatt,et al. Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. , 2000, The Journal of biological chemistry.
[11] M. Brin,et al. Immunohistochemical localization and distribution of torsinA in normal human and rat brain , 2000, Brain Research.
[12] X. Breakefield,et al. Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. , 2000, Human molecular genetics.
[13] K. Chaudhuri,et al. Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene , 2001, Journal of neurology, neurosurgery, and psychiatry.
[14] S. Pulst,et al. Cellular distribution of torsin A and torsin B in normal human brain. , 2001, Archives of neurology.
[15] Patrick R Hof,et al. Distribution and immunohistochemical characterization of torsinA immunoreactivity in rat brain , 2001, Brain Research.
[16] M. Brin,et al. Severe generalized dystonia due to primary putaminal degeneration: Case report and review of the literature , 2002, Movement disorders : official journal of the Movement Disorder Society.