ライフサイエンスコーパス: juvenile-onset

1 hows repetitive rotations and head tics with juvenile onset.

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

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

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

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

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

7 teral sclerosis-4 (ALS4) is characterized by juvenile onset and slow progression(3).

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

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

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

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

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

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

14 Juvenile-onset cataracts are distinguished from congenit

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

16 istress type 1 (SMARD1), and, more recently, juvenile-onset Charcot-Marie-Tooth disease type 2S (CMT2

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

18 tic cholestasis type 3 (PFIC3), an inherited juvenile-onset, cholestatic liver disease caused by homo

19 uman ABCB4 expression in vivo and to correct juvenile-onset chronic liver disease in a murine model o

20 ecific deletion of the Il10 gene resulted in juvenile onset colitis that was impeded when pups were f

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

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

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

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

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

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

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

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

29 s), and 2016-2018 (ages 34-43 years) without juvenile-onset diabetes or hypertension and with reporte

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

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

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

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

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

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

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

37 cular dystrophy, patients with congenital to juvenile-onset forms of DM1 can present with debilitatin

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

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

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

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

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

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

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

45 ortem tissues from seven adult-onset and one juvenile-onset HD individual.

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

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

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

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

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

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

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

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

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

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

56 f NK cells in the more severe phenotype with juvenile-onset (J)SLE.

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

58 Juvenile-onset lupus nephritis (LN) affects up to 80% of

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

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

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

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

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

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

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

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

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

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

69 Juvenile-onset neuronal ceroid lipofuscinosis (JNCL; Bat

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

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

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

73 0 patients from 8 families with childhood or juvenile onset of myopathy, 8 of whom also had rapidly p

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

75 Patients with juvenile-onset open-angle glaucoma (JOAG) without angle

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

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

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

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

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

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

82 own as PARK9, cause a rare monogenic form of juvenile-onset Parkinson's disease named Kufor-Rakeb syn

83 circDNAJC6, which is transcribed from a juvenile-onset Parkinson's gene, is already dysregulated

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

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

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

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

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

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

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

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

92 ing loss-of-function variants presented with juvenile-onset progressive generalized dystonia, associa

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

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

95 HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to inf

96 Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to inf

97 Juvenile-onset recurrent respiratory papillomatosis (JOR

98 Juvenile-onset recurrent respiratory papillomatosis (JOR

99 Juvenile-onset recurrent respiratory papillomatosis (JRR

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

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

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

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

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

105 Huntington's disease and juvenile-onset schizophrenia have long been regarded as

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

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

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

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

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

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

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

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

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

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

116 trate that CD4(+) T cells from patients with juvenile-onset SLE share phenotypical features with CREM

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

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

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

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

121 pared with CD4(+) T cells from patients with juvenile-onset SLE.

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

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

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

125 Juvenile-onset spondyloarthritis has variable clinical f

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

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

128 l that highly resembles the structure of the juvenile-onset synucleinopathy polymorph found in patien

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

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

131 et lupus nephritis (LN) affects up to 80% of juvenile-onset systemic lupus erythematosus patients (JS

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

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

134 Juvenile onset ulcerative colitis did not show north/sou

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

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