ライフサイエンスコーパス: primary dystonia

1 results in the genetic neuromuscular disease primary dystonia.

2 lates of tremor in patients with adult-onset primary dystonia.

3 common feature of patients with adult-onset primary dystonia.

4 patients with different types of adult-onset primary dystonia.

5 cues TorsinADeltaE could serve as a cure for primary dystonia.

6 th what has been described in other forms of primary dystonia.

7 he most prevalent form of dystonia syndrome, primary dystonia.

8 ) are the only genes identified thus far for primary dystonia.

9 family member who had early-onset, non-focal primary dystonia.

10 most cases of early onset autosomal dominant primary dystonia.

11 n-genetically characterized individuals with primary dystonia.

12 dysfunction that occurs in PD as well as in primary dystonia.

13 rovide insights into the etiopathogenesis of primary dystonia.

14 most frequent and severe form of hereditary primary dystonia.

15 a unique entity that stands apart from other primary dystonias.

16 p scientists understand the etiology of DYT1 primary dystonia, a movement disorder caused by a single

17 The most common cause of early onset primary dystonia, a neuromuscular disease, is a glutamat

18 ere recently identified as the cause of DYT6 primary dystonia; a founder mutation was detected in Ami

19 of cellular activities) ATPase implicated in primary dystonia, an autosomal-dominant movement disorde

20 tory circuits that differ from those seen in primary dystonia and epilepsy, and which may provide clu

21 mon movement disorders: Parkinson's disease, primary dystonia and essential tremor.

22 nctional magnetic resonance imaging to study primary dystonia and healthy volunteer subjects while th

23 ts into the pathophysiological mechanisms of primary dystonias and their treatment using pallidal dee

24 The vast majority of patients with primary dystonia are adults with focal or segmental dist

25 Pathophysiological deficits in primary dystonia are well characterized and include redu

26 is mutated in DYT1 dystonia, a rare type of primary dystonia, binds to and promotes the degradation

27 of primary motor cortex hyperexcitability in primary dystonia, but several functional imaging studies

28 DYT1 dystonia is a form of primary dystonia caused by an in-frame GAG deletion (Del

29 ear, four new genes have been shown to cause primary dystonia (CIZ1, ANO3, TUBB4A and GNAL), PRRT2 ha

30 ponses to natural versus unnatural motion in primary dystonia differ from normal, we used functional

31 in a broad phenotypic spectrum, ranging from primary dystonia (DYT4), isolated hypomyelination with s

32 Like other genetic primary dystonias, DYT6 patients have no characteristic

33 pathophysiology of writer's cramp and other primary dystonias, endogenous dopamine release during ta

34 After excluding mutations in known primary dystonia genes (TOR1A, THAP1 and CIZ1), whole-ex

35 Primary dystonia has been associated with an underlying

36 g of 760 subjects with familial and sporadic primary dystonia identified three Caucasian pedigrees wi

37 to the understanding of the pathogenesis of primary dystonia in humans and rats.

38 rlie a substantial proportion of early-onset primary dystonia in non-DYT1 families.

39 ndicates an important non-motor component to primary dystonia, including abnormalities in sensory and

40 the first evidence that causative genes for primary dystonia intersect in a common pathway and raise

41 Primary dystonia is a disease characterized by involunta

42 Primary dystonia is a movement disorder characterized by

43 The classical familial form of primary dystonia is caused by the DYT1 (DeltaE) mutation

44 Although primary dystonia is defined by its characteristic motor

45 d phenomenology in patients with adult-onset primary dystonia is limited.

46 Primary dystonia is thought to be a disorder of the basa

47 e lacking clear degenerative neuropathology, primary dystonia is thought to involve microstructural a

48 Primary dystonia is usually of adult onset, can be famil

49 The neuropathology of the primary dystonias is not well understood.

50 dystonia, the most common inherited form of primary dystonia, is a neurodevelopmental disease caused

51 YT1 carriers as well as in carriers of other primary dystonia mutations such as DYT6.

52 were compared with the data of patients with primary dystonia obtained previously.

53 t period between patients with secondary and primary dystonia or healthy controls.

54 We studied a retrospective cohort of 21 DYT1 primary dystonia patients treated for at least 1 year wi

55 nto various aetiological categories, such as primary, dystonia-plus, heredodegenerative, and secondar

56 Five new genes for primary dystonia (PRRT2, CIZ1, ANO3, TUBB4A and GNAL) ha

57 In contrast, patients with primary dystonia showed increased cortical plasticity an

58 In 15 patients with primary dystonia (six cervical and nine generalized dyst

59 Lack of a preclinical model of primary dystonia that exhibits dystonic-like twisting mo

60 Our results establish a genetic model of primary dystonia that is overtly symptomatic, and link t

61 he genetic basis of dystonias, including the primary dystonias, the 'dystonia-plus' syndromes and her

62 g studies have related the motor features of primary dystonia to connectivity changes in cerebello-th

63 es most cases of childhood-onset generalized primary dystonia, was cloned in 1997, and use of cell mo

64 ons with significant connectivity changes in primary dystonia were situated in proximity to normal mo

65 nsecutive patients with medically refractory primary dystonia who underwent pallidal DBS implants.

66 increasingly recognised, most patients have primary dystonia without a specific cause.