ライフサイエンスコーパス: ataxic

1 and in 5 nonprogressive ataxia patients from ATAXIC.

2 veral months, limb movements became severely ataxic.

3 neuromuscular control, could be described as ataxic.

4 he extent of tolerance that developed to the ataxic action of ethanol in experimental designs in whic

5 ring the chronic treatment, tolerance to the ataxic actions of ethanol was unaffected.

6 , nimodipine did not affect tolerance to the ataxic actions of ethanol.

7 ells, and flies that lack Atonal protein are ataxic and blind.

8 tant mouse was first identified based on its ataxic and convulsive phenotype.

9 beta1-/- mice appear ataxic and display spontaneous generalized seizures.

10 Stargazer, an ataxic and epileptic mutant mouse, lacks functional AMPA

11 ing TARPs gamma-2 and gamma-3 are profoundly ataxic and fail to thrive.

12 We found that these mice were ataxic and had a reduction of Purkinje-cell axon termina

13 erebellar deficient folia (cdf) mutation are ataxic and have cerebellar hypoplasia and abnormal lobul

14 Mice homozygous for mutations in Unc5h3 are ataxic and have cerebellar hypoplasia and laminar struct

15 ele at codon 129; 25% of cases displayed the ataxic and kuru-plaque variants, associated to PrP(Sc) t

16 Mutant med mice are ataxic and lack expression of the Scn8a gene, which enco

17 Adult Egr3-deficient mice are ataxic and lack muscle spindle proprioceptors that norma

18 L7-PP2B mice were not ataxic and showed proper basic motor performance during

19 arch for anticonvulsants devoid of sedative, ataxic, and amnestic side effects.

20 idepressant, anti-epileptic, analeptic, anti-ataxic, and anorectic properties.

21 e ethanol (EtOH), has stimulant, anxiolytic, ataxic, and depressant effects.

22 rebellar Purkinje neurons progressively, are ataxic, and show parallel progressive declines in rotoro

23 n reelin, dab1, or both vldlr and apoER2 are ataxic, and they exhibit severe lamination defects withi

24 expressed Dpl at twice the level and became ataxic approximately 5 months earlier.

25 OAZ-deficient mice are ataxic, attributed to the reduction of the cerebellar ve

26 g the pattern of gene expression in the SCA1 ataxic B05-ataxin-1[82Q] transgenic mouse line with thos

27 Heterozygous Lc/+ mice are viable but ataxic because Lc/+ Purkinje cells die by apoptosis with

28 Homozygous weaver mice are profoundly ataxic because of the loss of granule cell neurons durin

29 tion (pcd), was first identified through its ataxic behavior.

30 n of preBotC NK1R neurons results in both an ataxic breathing pattern with markedly altered blood gas

31 s at 9 months of age, although they were not ataxic by cage behavior.

32 r patients in our cohort with a diagnosis of ataxic cerebral palsy.

33 istent with inner ear anomalies, as they are ataxic, circle, display head tilting behavior and do not

34 spasticity, as in those with a dyskinetic or ataxic disability.

35 /ptosis and spastic ataxia, or a progressive ataxic disorder.

36 te how our knowledge of the genetic basis of ataxic disorders has come about by novel techniques in g

37 lastic and 55 patients had nonparaneoplastic ataxic disorders.

38 the practice sessions, the tolerance to the ataxic effect of ethanol was increased.

39 MK-801 potentiated ethanol's ataxic effects in the grid test, but had no effect on to

40 tivity but was devoid of the muscle relaxant/ataxic effects of "classical" 1,4-benzodiazepines (i.e.,

41 ns lead to reduced responsiveness to certain ataxic effects of ethanol without affecting dependence.

42 ntoxicating effects of ethanol and the motor ataxic effects of general anesthetics.

43 I-048A induced sedative, muscle relaxant and ataxic effects, reversed mechanical hyperalgesia 24h aft

44 Ataxic episodes in EA-1 patients are often associated wi

45 exhibit partial epilepsy and myokymia but no ataxic episodes, supporting the suggestion that there is

46 Both animals were ataxic from day 2 onward.

47 ubjects), neuropathic gait (in 11 subjects), ataxic gait (in 10 subjects), parkinsonian gait (in 8 su

48 stantial improvement in myoclonic movements, ataxic gait and dysarthric speech after treatment.

49 nd gives rise to functional deficits such as ataxic gait and trembling in the reeler mutant mouse.

50 Stargazer mice also have an ataxic gait and vestibular problems, including a distinc

51 , affected mutants present with a wide-based ataxic gait and whole body tremor.

52 inhibitory RORbeta IN function result in an ataxic gait characterized by exaggerated flexion movemen

53 ion of the FBXO41 gene results in a severely ataxic gait in mice, which show delayed neuronal migrati

54 lly, this developmental defect results in an ataxic gait in some mice.

55 The severe ataxic gait of the older mice was likely due to the dram

56 argeted mutant mouse appeared normal with no ataxic gait or absence seizures, suggesting that other m

57 hibit growth retardation, reduced life span, ataxic gait with apoptosis of cerebellar granule cells f

58 by severe mental retardation, 'puppet-like' ataxic gait with jerky arm movements, seizures, EEG abno

59 n Chromosome 10 characterized by progressive ataxic gait, dystonic movements, spontaneus seizures, an

60 The animals had ataxic gait, hyperactivity and decreased hearing.

61 genetics in a spontaneous mouse mutant with ataxic gait, upward head-elevating movements (hence the

62 intention tremor, dysarthric speech, and an ataxic gait.

63 nje cell loss as the underlying cause of the ataxic gait.

64 d dystonia, and a characteristic hobby horse ataxic gait.

65 n challenging because of the large number of ataxic genetic syndromes, many of which overlap in their

66 stricted deficits after small focal lesions (ataxic hemiparesis, dysarthria-clumsy hand syndrome, dys

67 ngiform encephalopathy (BSE) are manifest as ataxic illnesses.

68 and slips while traversing a narrow beam of ataxic Kcnc3-null mice were corrected by restoration of

69 nxiolytic-like effects with reduced sedative/ataxic liabilities.

70 sgenic mouse line with those seen in two non-ataxic lines, A02-ataxin-1[30Q] and K772T-[82Q], nine ge

71 were characterized in Purkinje neurons from ataxic mice lacking expression of the sodium channel Scn

72 ivo perfusion of EBIO into the cerebellum of ataxic mice significantly improved motor performance.

73 The scrambler mutation results in ataxic mice that exhibit several neuroanatomic defects r

74 cutely restored normal motor function in the ataxic mice.

75 xed CP (dyskinetic, athetoid, hypotonic, and ataxic) more often had high myopia, CVI, dyskinetic stra

76 chromosome 10 associated with the recessive ataxic mouse mutant jittery.

77 II and methylated H3-K79 are observed in the ataxic mouse mutant robotic, an over-expression model of

78 Here, we describe a severely ataxic mouse strain that harbors a single, destabilizing

79 d as the defective gene in the epileptic and ataxic mouse, stargazer.

80 d that was first identified in the 'lurcher' ataxic mouse.

81 Ataxic movements were less accurate than normal in two w

82 hin-3 (NT-3) mRNA expression patterns in the ataxic mutant mouse stargazer (stg).

83 In the spontaneous ataxic mutant mouse stargazer, there is a selective redu

84 BDNF expression in a related ataxic mutant, tottering, was unaltered.

85 clonal antibodies from patients with chronic ataxic neuropathies and Miller Fisher syndrome were stud

86 Autoimmune ataxic neuropathies are a subset of the sensory ataxic n

87 oglobulin G (IgG) antibodies, and in chronic ataxic neuropathies associated with persistently elevate

88 The major known causes of autoimmune ataxic neuropathies include sensory variants of the Guil

89 The major site of pathology in autoimmune ataxic neuropathies is the dorsal root ganglion, but dor

90 xic neuropathies are a subset of the sensory ataxic neuropathies which are characterized by ataxia as

91 anti-GD1b ganglioside antibody in autoimmune ataxic neuropathies.

92 ole of human anti-GD1b antibodies in sensory ataxic neuropathies.

93 The combination of CPEO and sensory ataxic neuropathy (SANO, incomplete SANDO) was found in

94 Huttenlocher syndrome to adult-onset sensory ataxic neuropathy dysarthria and ophthalmoparesis.

95 c neuropathy syndrome termed chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies is

96 The sensory ataxic neuropathy with dysarthria and ophthalmoparesis (

97 The combination of sensory ataxic neuropathy with ophthalmoparesis (SANO) was obser

98 reviously under the acronym CANOMAD: chronic ataxic neuropathy, ophthalmoplegia, IgM paraprotein, col

99 nction in Purkinje cells are involved in the ataxic null phenotype and motor coordination, but not mo

100 Here we show that in ataxic P/Q channel mutant mice, the precision of Purkinj

101 ntify new mutations in a large population of ataxic patients and to functionally analyze their cellul

102 Our objective was to report 9 ataxic patients carrying 8 novel ANO10 mutations to impr

103 uting for the normal smooth LVOR slow phase, ataxic patients employed catch-up saccades 150-250 ms af

104 In contrast, the LVOR of ataxic patients had normal latency but significantly dec

105 mportant cause, albeit rare, of a late-onset ataxic PEO phenotype due to a disturbance of mtDNA maint

106 Contactin-/- mutants displayed a severe ataxic phenotype consistent with defects in the cerebell

107 bellar BDNF expression may be related to the ataxic phenotype in stg mice.

108 +/du(2J), mice; these data suggest that the ataxic phenotype is associated with lack of precision of

109 rophy (DRPLA), progressive acquirement of an ataxic phenotype is linked to severe cerebellar cellular

110 However, the ataxic phenotype is present from a very early stage (bef

111 To explore the lethal, ataxic phenotype of complex I deficiency in Ndufs4 knock

112 s of type II UBCs may both contribute to the ataxic phenotype of these mice and that different calciu

113 the CSB gene (Csb-/-) exhibit a much milder ataxic phenotype than human patients.

114 vivo loss of TK2 activity leads to a severe ataxic phenotype, accompanied by reduced mtDNA copy numb

115 ased Ca(2)(+) influx in PCs and reversed the ataxic phenotype.

116 ompromised Ca(2)(+) channel activity and the ataxic phenotype.

117 CB1 R deficits may also induce a progressive ataxic phenotype.

118 of the SACS gene, and 156 patients from the ATAXIC project presenting with congenital ataxia were in

119 Analysis of visibly ataxic Purkinje cell degeneration (pcd) mice reveals tha

120 hat ENT1-null mice show reduced hypnotic and ataxic responses to ethanol and greater consumption of a

121 orally, knockout mice are insensitive to the ataxic, sedative, and analgesic effects of the novel hyp

122 Two ataxic siblings and 2 asymptomatic family members were e

123 By week 4, mutant mice were ataxic, some PCs had died, and remaining PC soma and den

124 ied a novel EA2 kindred in which members had ataxic spells induced by fevers or high environmental te

125 Ataxic spells lasting minutes to hours are provoked by s

126 behavioral symptoms: pre-symptomatic stage, ataxic stage, early post-opisthotonus stage, or the late

127 ynaptic plasticity in SCs from epileptic and ataxic stargazer mutant mice.

128 This work is the first to report that the ataxic subtype of cerebral palsy can be caused by de nov

129 As ataxic symptoms occur in other diseases of heme deficien

130 ctive neurodegeneration and suggest that the ataxic symptoms of NPC disease arise from Purkinje cell

131 Thus, Dpl levels in brain and onset of the ataxic syndrome are inversely correlated.

132 More importantly, the history of an ataxic syndrome in a parent does not exclude the diagnos

133 he Prn gene complex, was responsible for the ataxic syndrome, we placed the mouse Dpl coding sequence

134 mice resulted in a phenotypic rescue of the ataxic syndrome, while Dpl overexpression was unchanged.

135 of the arm were examined in 17 patients with ataxic syndromes due to degenerative disease of the cere

136 c lateral sclerosis, prion disease, and many ataxic syndromes, have been found.

137 Homozygous Zfp423 null mice are runted and ataxic, the cerebellum is underdeveloped, and the vermis

138 Mutant mice display an ataxic, unstable gait accompanied by an intention tremor

139 as that with dementia of long duration, the ataxic variant, and the variant with kuru plaques were l

140 r from impaired motor learning without being ataxic, were tested for social behavior using a sociabil