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Læknablaðið - 15.12.2003, Qupperneq 32

Læknablaðið - 15.12.2003, Qupperneq 32
FRÆÐIGREINAR / VÖÐVASPENNUTRUFLUN 32. Edwards M, Wood N, Bhatia K. Unusual Phenotypes in DYTl Dystonia: A Report of Five Cases and a Review of the Literature. Mov Disord 2003; 18: 706-11. 33. Graeber MB, Kupke KG, Míiller U. Delineation of the dys- tonia-parkinsonism syndrome locus in Xql3. Proc Natl Acad Sci USA 1992; 89: 8245-824. 34. Ahmad F, Davis MB, Waddy HM, Oley CA, Marsden CD, Harding AE. Evidence for locus heterogeneity in autosomal dominant torsion dystonia. Genomics 1992; 15: 9-12. 35. Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, et al. Hereditary progressive dystonia with marked diurnal fluctuations caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994; 8: 236-42. 36. Knappskog P, Flatmark T, Mallet J, Ludecke B, Bartholome K. Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995; 4:1209-12. 37. Almasy L, Bressman SB, Raymond D, Kramer PL, Greene PE, Heiman GA, et al. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol 1997; 42: 670-3. 38. Leube B, Rudnicki D, Ratzlaff T, Kessler KR, Benecke R, Auburger G. Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, auto- somal dominant inheritance and purely focal distribution. Hum Mol Genet 1996; 5:1673-7. 39. Fouad GT, Servidei S, Simon D, Bertini E, Ptacek LJ. A gene for familial paroxysmal dyskinesia (FDPl) maps to chromo- some 2q. Am J Hum Genet 1996; 59:135-9. 40. Auburger G, Ratzlaff T, Lunkes A, Nelles HW, Leube B, Binkfoski F, et al. A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of potas- sium channel gene cluster on chromosome lp, probably within 2 cM between D1S443 and D1S197. Genomics 1996; 31: 90-4. 41. Tomita H, Nagamitsu S, Wakui K, Fukushima Y, Yamada K, Sadamatsu M, et al. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16pll,2-ql2.1. Am J Hum Genet 1999; 65:1688-97. 42. Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, et al. Mutations in the gene encoding epsilon- sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001; 29: 66-9. 43. Kramer PL, Mineta M, Klein C, Schilling K, de Leon D, Far- low MR, et al. Rapid-onset dystonia-parkinsonism: iinkage to chromosome 19ql3. Ann Neurol 1999; 46:176-82. 44. Valente EM, Bentivoglio AR, Cassetta E, Dixon PH, Davis MB, Ferraris A, et al. Dytl3, a novel primary torsion dystonia locus, maps to chromosome lp36.13-36.32 in an Italian family with cranial-cervical or upper limb onset. Ann Neurol 2001; 49: 362-6. 45. Grötzsch H, Pizzolato GP, Ghika J, Schorderet D, Vingerhoets FJ, Landis T, et al. Neuropathology of a case of dopa-respon- sive dystonia associated with a new genetic locus, DYT14. Neurology 2002; 58:1839-42. 46. Richter A, Löscher W. Pathophysiology of idiopathic dysto- nia: findings from genetic animal models. Prog Neurobiol 1999; 54: 633-77. 47. Berardelli A, Curra A. Pathophysiology and treatment of cranial dystonia. Mov Disord 2002; 17: 70-4. 48. Hallett M. Disorder of movement preparation in dystonia. Brain 2000; 122:1765-6. 49. Hummel SM, Líicking CH. Die posttraumatische Dystonie. Ein Uberblick und gutachterliche Aspekte. Nervenarzt 2001; 72: 93-9. 50. Velickovic M, Benabou R, Brin MF. Cervical dystonia patho- physiology and treatment options. Drugs 2001; 61:1921-43. 51. Huang W, Foster JA, Rogachefsky AS. Pharmacology of botulinum toxin. J Am Acad Dermatol 2000; 43: 249-59. 52. Jankovic J, Tintner R. Botulinum toxin for the treatment of cervical dystonia. Expert Opin Pharmacother 2001; 2:1985-94. 53. Vesper J, Klostermann F, Funk T, Bock M. [Chronic high fre- quency deep brain stimulation of the globus pallidus internus for torsion dystonia]. Zentralbl Neurochir 2002; 63:18-22. 54. Hoffman RE, Cavus I. Slow transcranial magnetic stimulation, long-term depotentiation, and brain hyperexcitability disor- ders. Am J Psychiatry 2002; 159:1093-102. 948 Læknablaðið 2003/89
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