ライフサイエンスコーパス: torsion dystonia

1 l role as a therapeutic agent in early onset torsion dystonia.

2 es dominantly inherited cases of early-onset torsion dystonia.

3 t expressed in mutation carriers for primary torsion dystonia.

4 , and may have implications for the study of torsion dystonia.

5 most cases of autosomal dominant early-onset torsion dystonia.

6 nction in the pathophysiology of early-onset torsion dystonia.

7 is indeed a mutation that causes early-onset torsion dystonia.

8 P1 gene were recently shown to underlie DYT6 torsion dystonia.

9 Torsion dystonia-1 (DYT1) dystonia, the most common inhe

10 enes, the candidate disease gene regions for torsion dystonia 3 and two X-linked mental retardation s

11 Early-onset torsion dystonia, a CNS-based movement disorder, is usua

12 A is mutated in individuals with early-onset torsion dystonia, a neuromuscular disease.

13 -Mennonite families with mixed-onset primary torsion dystonia (also known as DYT6 dystonia).

14 d now includes three mapped loci for primary torsion dystonia, although other susceptibility genes ar

15 Early-onset torsion dystonia, an autosomal dominant disease associat

16 ently arisen Lithuanian mutations, those for torsion dystonia and familial hypercholesterolemia.

17 osome 9q34 in autosomal dominant early-onset torsion dystonia and the detection of linkage for one fo

18 Adult onset primary torsion dystonia (AOPTD) is a poorly penetrant autosomal

19 Most cases of early onset torsion dystonia are caused by a 3-bp deletion (GAG) in

20 ese data support that both the wild type and torsion dystonia-associated forms of torsin A are proper

21 DYT1 early-onset generalized torsion dystonia (DYT1 dystonia) is an inherited movemen

22 tly inherited movement disorder, early onset torsion dystonia (DYT1) are caused by a mutant form of t

23 The gene causing early-onset torsion dystonia (DYT1) has recently been identified, an

24 tions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixe

25 A DeltaE) is the major cause for early-onset torsion dystonia (DYT1).

26 nuclear envelope responsible for early onset torsion dystonia (DYT1).

27 lope, with a mutant form causing early onset torsion dystonia (DYT1).

28 Most cases of early-onset torsion dystonia (EOTD) are caused by a deletion of one

29 Early-onset torsion dystonia (EOTD) is a neurological disorder chara

30 well as the identification of other primary torsion dystonia genes, should help elucidate the mechan

31 mouse models of early-onset DYT1 generalized torsion dystonia; however, the relationship between the

32 common extrapyramidal disorders: idiopathic torsion dystonia, idiopathic Parkinson's disease and Hun

33 be responsible for most cases of early-onset torsion dystonia in both Ashkenazic Jewish (AJ) and non-

34 rsinA cause dominantly inherited early-onset torsion dystonia in humans.

35 ta signaling might also underlie early onset torsion dystonia in humans.

36 Early onset (DYT1) torsion dystonia is a dominantly inherited movement diso

37 Early-onset torsion dystonia is a hereditary movement disorder thoug

38 Early-onset torsion dystonia is a hyperkinetic movement disorder cau

39 Early-onset torsion dystonia is a movement disorder, characterized b

40 Early-onset torsion dystonia is an autosomal dominant hyperkinetic m

41 Torsion dystonia is an autosomal dominant movement disor

42 Early-onset torsion dystonia is an autosomal dominant movement disor

43 Early onset torsion dystonia is characterized by involuntary movemen

44 Primary torsion dystonia is one of the most severe types of inhe

45 Early-onset torsion dystonia is the most severe heritable form of dy

46 another movement disorder termed early-onset torsion dystonia, is highly expressed in DA neurons and

47 tivation studies on patients with idiopathic torsion dystonia (ITD) have shown overactive striatum an

48 Clinical-genetic studies of idiopathic torsion dystonia (ITD) indicate that the DYT1 gene on ch

49 Early-onset idiopathic torsion dystonia (ITD) is an autosomal dominant hyperkin

50 ble for most childhood limb-onset idiopathic torsion dystonia (ITD).

51 Study of one of these primary torsion dystonia loci (DYT1) has culminated in the cloni

52 scribe two patients with typical early-onset torsion dystonia of Swiss-Mennonite and non-Jewish Russi

53 Primary torsion dystonia (PTD) is a clinically and genetically h

54 Only three genes for primary torsion dystonia (PTD), TOR1A (DYT1), THAP1 (DYT6) and C

55 Only three genes for primary torsion dystonia (PTD), TOR1A (DYT1), THAP1 (DYT6) and C

56 The deletion in DYT1 associated with torsion dystonia results in the loss of one of a pair of

57 her mutation in a German family with primary torsion dystonia suggests that THAP1 mutations also caus

58 llular and molecular etiology of early onset torsion dystonia, we have established a Drosophila model

59 n chromosome 9q34 causes early-onset primary torsion dystonia with autosomal dominant inheritance but

60 d in DYT1, the causative gene for idiopathic torsion dystonia with linkage to 9q34.