Human gene for torsion dystonia located on chromosome 9q32-q34

Neuron

Volumn 2, Issue 5, 1989, Pages 1427-1434

  Ozelius, Laurie ^a,b   Kramer, Patricia L ^c   Moskowitz, Carol B ^d   Kwiatkowski, David J ^c   Brin, Mitchell F ^d   Bressman, Susan B ^d   Schuback, Deborah E ^a   Falk, Catherine T ^e   Risch, Neil ^f   de Leon, Deborah ^d   Burke, Robert E ^d   Haines, Jonathan ^a   Gusella, James F ^a,b   Fahn, Stanley ^d   Breakefield, Xandra O ^a,b,g  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d Dystonia Clinical Research Center Department of Neurology Columbia University College of Physicians and Surgeons New York ^*  (United States)

^e NEW YORK BLOOD CENTER   (United States)

^f YALE UNIVERSITY   (United States)

^g UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; CALCIUM BINDING PROTEIN; CALCIUM BINDING PROTEINS; DIAGNOSTIC AGENT; DOPAMINE BETA MONOOXYGENASE; GELSOLIN;

ARTICLE; CHROMOSOME 9; CHROMOSOME MAP; DNA PROBE; GENETIC LINKAGE; GENETIC MARKER; GENETICS; HUMAN; PEDIGREE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TORSION DYSTONIA;

CALCIUM-BINDING PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; DNA PROBES; DOPAMINE BETA-HYDROXYLASE; DYSTONIA MUSCULORUM DEFORMANS; GELSOLIN; GENETIC MARKERS; HUMAN; LINKAGE (GENETICS); MICROFILAMENT PROTEINS; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0024657745     PISSN: 08966273     EISSN: None     Source Type: Journal    
DOI: 10.1016/0896-6273(89)90188-8     Document Type: Article

References (73)

1. Possible involvement of brain noradrenergic neurons in dystonia
2. Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines
3. Dispersion ofargininosuccinate-synthetase-like human genes to multiple autosomes and the X chromosome
4. Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms
5. Paroxysmal nonkinesigenic dystonia
6. Inheritance of idiopathic torsion dystonia among Ashkenazi Jews
7. Autosomal dominant dystonia in a large North American family: clinical features
8. An analysis of the clinical course of non-Jewish autosomal dominant torsion dystonia
9. Comparison of the clinical course of the Jewish and nonJewish, juvenile-onset, familial torsion dystonias
10. Secondary dystonia
11. Isolation and mapping of a polymorphic DNA sequence pMCT136 on chromosome 9q (D9S10)
12. Localization of the human dopamine beta hydroxylase (DBH) gene to chromosome 9q34
13. The “singles” method for segregation analysis under ascertainment
14. Intracerebral infusion of norepinephrine produces dystonia in the rat
15. Biochemical findings in symptomatic dystonias
16. A genetic linkage map of the human genome
17. Dystonia musculorum-an inherited disease of the nervous system in the mouse
18. The torsion dystonias: literature review: genetic and clinical studies
19. The varied clinical expressions of dystonia
20. Generalized dystonia: concept and treatment
21. X-linked recessive dystonia and Parkinsonism in Filipino males
22. Classification and investigation of dystonia
23. Linkage studies in families with dystonia: linkage analysis as a tool to locate and characterize the gene(s) for dystonia
24. Addendum to “A technique for radiolabeling DNA restriction fragments to high specific activity”
25. Actions of cytochalasins on the organization of actin filaments and microtubules in a neuronal growth cone
26. Autosomal dominant torsion dystonia in a Swedish family
27. Precise localization of human beta-globin gene complex on chromosome 11
28. Primary dystonias: a review of the pathology and suggestions for new directions of study
29. Age-of-onset correction available for linkage analysis (LIPED)
30. Dystrophin: The protein product of the Duchenne muscular dystrophy locus
31. Biochemical evidence for brain neurotransmitter changes in idiopathic torsion dystonia (dystonia musculorum deformans)
32. Postural asymmetry and movement disorder after unilateral microinjection of adrenocorticotropin 1–24 in rat brainstem
33. Brain neurotransmitters in dystonia
34. Hypervariable ‘minisatellite’ regions in human DNA
35. Studies on dystonia musculorum deformans
36. Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p 13q and 21q by multi-point linkage analysis
37. The molecular genetics of an autosomal dominant form of torsion dystonia
38. Isolation and mapping of a polymorphic DNA sequence pEKZ193 on chromosome 9q (D9S17)
39. Myoclonus and dystonia: a family study
40. Genomic organization and biosynthesis of secreted and cytoplasmic forms of gelsolin
41. Muscle is the major source of plasma gelsolin
42. Localization of gelsolin proximal to ABL on chromosome 9
43. The gelsolin cDNA clone from 9q32-34 identifies Bcll and Stul RFLPs
44. The primary structure of human dopamine-beta-hydroxylase: insights into the relationship between the soluble and the membrane-bound forms of the enzyme
45. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes
46. Mapmaker: an interactive computer package for constructing primary genetic linkage map of experimental and natural populations
47. Efficient computations in multi locus linkage analysis
48. A mapped set of genetic markers for human chromosome 9
49. Torsion dystonia in Panay, Philippines
50. The retinoblastoma susceptibility gene encodes a nuclear phosphoprotein associated with DNA binding activity
51. Neuropharmacological correlates ofthe motor syndrome of the genetically dystonic (dt) rat
52. Congenital dopamine-beta-hydroxylase deficiency: a novel orthostatic syndrome
53. The anatomical basis of symptomatic hemidystonia
54. Pieces in the actin-severing protein puzzle
55. Variable number of tandem repeat (VNTR) markers for human gene mapping
56. Multilocus linkage analysis with the human argininosuccinate synthetase gene
57. Lebers disease and dystonia: a mitochondrial disease
58. Doparesponsive dystonia
59. A computer program for linkage analysis of general human pedigrees
60. Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion
61. Isolated failure of autonomic noradrenergic neurotransmission. Evidence for impaired beta-hydroxylation of dopamine
62. Hereditary progressive dystonia with marked diurnal fluctuation
63. Gel electrophoresis of restriction fragments
64. The human as an experimental system in molecular genetics
65. Construction of linkage maps with DNA markers for human chromosomes
66. Linkage of a gene regulating dopamine-beta-hydroxylase activity and the ABO blood group locus
67. Elevated plasma dopamine-beta-hydroxylase activity in autosomal dominant torsion dystonia
68. Gelsolin: a calcium- and polyphosphoinositideregulated actin-modulating protein
69. Control ofcytoplasmic actin gelsol transformation by gelsolin, a calcium-dependent regulatory protein
70. Pathology of the torsion dystonias (dystonia musculorum deformans)
71. Dystonia musculorum defermans: clinical genetic and pathoanatomical studies
72. Plasma norepinephrine and dopamine-hydroxylase in dystonia
73. Inheritance of idiopathic torsion dystonia among Jews