ライフサイエンスコーパス: juvenile-onset

1 me (KRS), a rare parkinsonian phenotype with juvenile onset.

2 RS) is a form of macular degeneration with a juvenile onset.

3 rdt disease, a blindness macular disorder of juvenile onset.

4 en linked to one form of autosomal recessive juvenile onset ALS (ALS2).

5 plex hereditary spastic paraplegia (HSP) and juvenile onset amyotrophic lateral sclerosis (ALS5).

6 the most common cause of autosomal recessive juvenile-onset and young-onset parkinsonism.

7 Patients with juvenile-onset ankylosing spondylitis appear to have poo

8 nant-negative effect that is associated with juvenile-onset ataxia and intellectual disability.

9 One form of juvenile onset autosomal recessive ALS (ALS2) has been l

10 uvenile-onset osteoporosis and congenital or juvenile-onset blindness.

11 uding caudate/putamen, white matter, and, in juvenile-onset cases, also the cerebellum.

12 Juvenile-onset cataracts are distinguished from congenit

13 pedigree, segregating for autosomal dominant juvenile-onset cataracts, identified a locus in chromoso

14 Fxr-/-Shp-/- mice could provide a model for juvenile onset cholestasis.

15 There was an increased incidence of juvenile-onset Crohn's disease in northern compared with

16 The incidence of juvenile-onset Crohn's disease was 2.3 (95% CI: 2.0-2.5)

17 emographic and/or geographic distribution of juvenile=onset Crohn's disease in Scotland.

18 The renal manifestation of JBTS is a juvenile-onset cystic kidney disease, known as nephronop

19 We investigated three siblings with juvenile-onset diabetes and central and peripheral neuro

20 neurodegenerative disorder characterized by juvenile-onset diabetes mellitus and bilateral optic atr

21 nally described as a combination of familial juvenile-onset diabetes mellitus and optic atrophy.

22 rmissive MHC locus, was sufficient to induce juvenile-onset diabetes on an otherwise T1D-resistant ge

23 rapid beta-cell loss, culminating in severe juvenile-onset diabetes.

24 ile separate criteria have been proposed for juvenile onset disease, they remain to be validated.

25 Patients with juvenile-onset disease (n = 143) were evaluated a median

26 mutants causing infantile-onset rather than juvenile-onset disease.

27 onset disease and 6.8 years in patients with juvenile-onset disease.

28 ystrophy is an inherited autosomal dominant, juvenile onset form of macular degeneration caused by mu

29 An autosomal recessive juvenile-onset form of Parkinson's disease (AR-JP) is ca

30 ALS), including some of the most aggressive, juvenile-onset forms of the disease.

31 nd irido-corneal angle are associated with a juvenile-onset glaucoma transmitted as an autosomal domi

32 Compared with the adult-depressed group, the juvenile-onset groups experienced more perinatal insults

33 The 2 juvenile-onset groups had similar high-risk profiles on

34 be1(neo/neo)) exhibit a phenotype similar to juvenile onset GSD IV, with wide spread accumulation of

35 In STHdhQ111 knock-in striatal cells, a juvenile onset HD CAG repeat was associated with low mit

36 neurotrophic factor (BDNF) withdrawal in the juvenile-onset HD (JHD) lines, which appeared to be CAG

37 ll-selective aspects of both adult-onset and juvenile-onset HD pathogenesis and we discuss the implic

38 from individuals with either adult-onset or juvenile-onset HD.

39 However, this deficit was greater for juvenile onset hearing loss (89 Hz) relative to adult on

40 a recent paper, patients with a progressive juvenile-onset hereditary cataract have been reported to

41 tallin (HGD) gene has been associated with a juvenile-onset hereditary cataract.

42 Cross-fostered (CF) mice demonstrated juvenile onset hyperphagia and significantly higher body

43 ed birth patterns in groups of patients with juvenile-onset IIM (n = 307) and controls (n = 3,942) wh

44 and from that of non-Hispanic patients with juvenile-onset IIM (P < 0.001), who had a mean birth dat

45 Hispanic patients with juvenile-onset IIM had a seasonal birth pattern (mean bi

46 DA antibodies was similar to that of classic juvenile-onset insulin-dependent diabetes, and either ph

47 r with age-related onset (AMD) and four with juvenile onset (JMD)-and two age-matched normal vision c

48 s and in peripheral blood from patients with juvenile-onset lupus.

49 Stargardt disease (STGD) is a juvenile-onset macular dystrophy and can be inherited in

50 ecessive retinal disorder characterized by a juvenile-onset macular dystrophy, alterations of the per

51 Family and twin studies suggest that juvenile-onset major depressive disorder (MDD) may be et

52 eration pedigree with an autosomal dominant, juvenile-onset motor-systems disease.

53 fferential diagnosis for both infantile- and juvenile-onset movement disorders, including cerebral pa

54 sive-addition lenses slow the progression of juvenile-onset myopia compared with single-vision lenses

55 trial evaluating the rate of progression of juvenile-onset myopia in children wearing progressive-ad

56 hildren's visual activity levels can predict juvenile-onset myopia.

57 e vision lenses (SVLs) on the progression of juvenile-onset myopia.

58 Juvenile-onset neuronal ceroid lipofuscinosis (JNCL; Bat

59 Batten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is

60 neuro-degenerative disorder associated with juvenile onset non-autoimmune diabetes mellitus and prog

61 N2 variant associated with midapical HCM and juvenile onset of atrial fibrillation, emphasizing the p

62 0 patients from 8 families with childhood or juvenile onset of myopathy, 8 of whom also had rapidly p

63 s that display somatic instability and cause juvenile onset of the disorder.

64 l recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or juvenile-o

65 dopamine transporter deficiency syndrome of juvenile onset (outside infancy) and progressive parkins

66 The spontaneous development of juvenile-onset ovarian granulosa cell tumors in mice of

67 sease-causing defects in autosomal recessive-juvenile onset Parkinson's disease (AR-JP).

68 ve loss of midbrain dopaminergic neurons and juvenile-onset Parkinson's disease (PD).

69 ding Parkin, an E3 ubiquitin ligase, lead to juvenile-onset Parkinson's disease by inducing the selec

70 Kufor-Rakeb syndrome (KRS) characterized by juvenile-onset parkinsonism, pyramidal signs and dementi

71 ions in ATP13A2 (PARK9) and characterized by juvenile-onset parkinsonism, pyramidal signs, and cognit

72 missense mutation (E169K) in 2 patients with juvenile-onset paroxysmal AF (pAF).

73 ction from parkin-linked autosomal recessive juvenile-onset PD brains.

74 the parkin gene produce autosomal recessive juvenile-onset PD.

75 al domain and is associated with the classic juvenile-onset phenotype of Niemann-Pick type C disease.

76 wo members affected by POAG, 6 probands from juvenile-onset POAG families, and 108 control individual

77 y congenital glaucoma, one locus (GLC1A) for juvenile-onset primary open angle glaucoma and a further

78 oncrystallin structural gene that leads to a juvenile-onset, progressive cataract.

79 e IL22 promoter with a strong association to juvenile-onset psoriasis and demonstrate that this risk

80 Juvenile-onset recurrent respiratory papillomatosis (JOR

81 related and HPV-11-related genital warts and juvenile-onset recurrent respiratory papillomatosis by m

82 nt membrane defect that leads to progressive juvenile-onset renal failure.

83 Stargardt disease is a juvenile onset retinal degeneration, associated with ele

84 Individuals with juvenile-onset RRP also mounted a range of VLP responses

85 rders including cognitive disorders, autism, juvenile-onset schizophrenia and encephalopathy with ear

86 s measured in neutrophils from patients with juvenile-onset SLE (n=12), adult-onset SLE (n=6), and pe

87 rophil apoptosis is altered in patients with juvenile-onset SLE as compared with controls.

88 was significantly increased in patients with juvenile-onset SLE as compared with the noninflammatory

89 of neutrophils with sera from patients with juvenile-onset SLE further increased neutrophil apoptosi

90 led together from 3 cohorts of patients with juvenile-onset SLE in 3 different medical centers and fr

91 s (caspase 3, Fas, and FADD) was elevated in juvenile-onset SLE neutrophils, whereas the expression o

92 ndicate that altered neutrophil apoptosis in juvenile-onset SLE patients may play a pathogenic role i

93 al centers and from a miscellaneous group of juvenile-onset SLE patients whose samples were sent by r

94 reased neutrophil apoptosis as compared with juvenile-onset SLE sera alone.

95 of anti-P antibodies in the pooled sample of juvenile-onset SLE sera was 45 of 108, or 42%, while in

96 ddition of GM-CSF to sera from patients with juvenile-onset SLE significantly decreased neutrophil ap

97 to ribosomal P protein are more prevalent in juvenile-onset SLE than in adult-onset SLE.

98 icantly increased in sera from patients with juvenile-onset SLE, whereas interleukin-6, tumor necrosi

99 both neutrophils and sera from patients with juvenile-onset SLE.

100 a domestic cat model of autosomal recessive, juvenile-onset SMA similar to human SMA type III.

101 A syndrome of juvenile-onset SNHL and adult-onset DCM is caused by a m

102 n changes in the classification criteria for juvenile-onset spondyloarthritis and magnetic resonance

103 Juvenile-onset spondyloarthritis has variable clinical f

104 classification, diagnosis and management of juvenile-onset spondyloarthritis.

105 ral forms of macular degeneration, including juvenile onset Stargardt disease, Best vitelliform macul

106 The UK Juvenile-Onset Systemic Lupus Erythematosus (JSLE) Cohor

107 nversely correlated with disease activity in juvenile-onset systemic lupus erythematosus (SLE), sugge

108 The severe but rare juvenile-onset type has previously been mapped to 1q21-q

109 inson disease (PD), Huntington disease (HD), juvenile-onset, type 1 diabetes mellitus (JDM), Down syn

110 Juvenile onset ulcerative colitis did not show north/sou

111 The incidence of juvenile-onset ulcerative colitis did not show north/sou

112 In contrast to the rapid juvenile-onset weight gain seen in diabetes (db) and obe