ライフサイエンスコーパス: amaurosis

1 children and adults with Leber's congenital amaurosis.

2 of the childhood blindness Leber congenital amaurosis.

3 e site in two siblings with Leber congenital amaurosis.

4 tential therapies for human Leber congenital amaurosis.

5 out mice and in humans with Leber congenital amaurosis.

6 g disease of infancy called Leber congenital amaurosis.

7 utations in RPGRIP1 cause Leber's congenital amaurosis.

8 Mutations in RPGRIP1 cause Leber congenital amaurosis.

9 ng retinitis pigmentosa and Leber congenital amaurosis.

10 e blinding disease called Leber's congenital amaurosis.

11 s, retinitis pigmentosa and Leber congenital amaurosis.

12 le those in RPGRIP1 lead to Leber congenital amaurosis.

13 d to the retinal dystrophy, Leber congenital amaurosis.

14 s carrying the diagnosis of Leber congenital amaurosis.

15 inal degenerations known as Leber congenital amaurosis.

16 the diagnostic category of Leber congenital amaurosis.

17 dystrophy and with de novo Leber congenital amaurosis.

18 cken is a model for human Leber's congenital amaurosis.

19 degenerations, including Leber's congenital amaurosis.

20 nt retinitis pigmentosa and Leber congenital amaurosis.

21 ng retinitis pigmentosa and Leber congenital amaurosis.

22 Two patients (5.1%) had Leber congenital amaurosis.

23 a phenotype that resembles Leber congenital amaurosis.

24 ss of enzymatic function in Leber congenital amaurosis.

25 described in 1 patient with Leber congenital amaurosis.

26 generation in some forms of Leber congenital amaurosis.

27 6) and recessive forms of Leber's congenital amaurosis.

28 tinal dystrophy, similar to Leber congenital amaurosis.

29 retinitis pigmentosa and Leber's congenital amaurosis.

30 Leber congenital amaurosis 1 (LCA1), caused by mutations in GUCY2D, is a

31 r the clinical treatment of Leber congenital amaurosis-1.

32 65 mutation correction in a Leber congenital amaurosis 2 (LCA2) patient-specific iPSC line using enFn

33 at was recently linked to Leber's congenital amaurosis 3 (LCA).

34 he most severe phenotype of Leber congenital amaurosis, 7 patients with biallelic GUCY2D had a later

35 e-rod dystrophy, 22.2% with Leber congenital amaurosis, 7.4% with early-onset retinitis pigmentosa, a

36 Leber congenital amaurosis 9 (LCA9) is an autosomal recessive retinal deg

37 These conditions range from Leber congenital amaurosis (a severe cone and rod degeneration of childho

38 mouse strain and in human Leber's congenital amaurosis, a congenital retinal dystrophy that results i

39 P1 have been shown to cause Leber congenital amaurosis, a group of retinal dystrophies that represent

40 Mutations in RPE65 cause Leber's congenital amaurosis, a progressive retinal degenerative disease th

41 Mutations in AIPL1 cause Leber congenital amaurosis, a severe early-onset retinopathy that leads t

42 1 gene were associated with Leber congenital amaurosis, a severe retinal degenerative disease that ca

43 A locus (LCA3) for Leber congenital amaurosis, a severe, early-onset form of arRD, maps clos

44 report development of ipsilateral transient amaurosis accompanied with mydriasis and both, direct an

45 ropathy), ocular disorders (Leber congenital amaurosis, age-related macular degeneration [AMD], choro

46 Retinal gene therapy for Leber's congenital amaurosis, an autosomal recessive childhood blindness, h

47 ed congenital infections, Leber's Congenital Amaurosis and Aicardy syndrome.

48 ons within the gene lead to Leber Congenital Amaurosis and autosomal recessive retinitis pigmentosa i

49 he cilia gene RPGRIP1 cause Leber congenital amaurosis and cone-rod dystrophy in humans.

50 rum of TULP1 mutations from Leber congenital amaurosis and early-onset retinitis pigmentosa to cone-d

51 ated in autosomal recessive Leber congenital amaurosis and early-onset retinitis pigmentosa.

52 s triggers a severe form of Leber congenital amaurosis and leads to blindness.

53 n a subset of patients with Leber congenital amaurosis and macular atrophy.

54 hy that is characterized by Leber congenital amaurosis and nephronophthisis.

55 nal degeneration, including Leber congenital amaurosis and Oliver McFarlane syndrome.

56 e Rpe65(-/-) mouse model of Leber congenital amaurosis and reduced the number of TUNEL(+) cells.

57 s in AIPL1 may present with Leber congenital amaurosis and residual ERGs characterized by slow insens

58 nditions in humans, such as Leber congenital amaurosis and retinitis pigmentosa (RP), are attributed

59 ction in some patients with Leber congenital amaurosis and RPE65 and LRAT mutations.

60 ents (aged >/=6 years) with Leber congenital amaurosis and RPE65 or LRAT mutations at McGill Universi

61 mentosa collectively termed Leber congenital amaurosis and segregates naturally in the collie breed o

62 rable models for studies of Leber congenital amaurosis and that the destructive cone opsin mistraffic

63 ential therapies for NMNAT1-Leber congenital amaurosis, and conducting in situ studies on NMNAT1 func

64 tronic mutations that cause Leber congenital amaurosis, and we speculate that reduced dosage of corre

65 One-fifth of all cases of Leber congenital amaurosis are type 1 (LCA1).

66 as retinitis pigmentosa and Leber congenital amaurosis, are a leading cause of untreatable blindness

67 Leber congenital amaurosis associated with GUCY2D caused severe congenita

68 ant retinitis pigmentosa, Leber's congenital amaurosis, autosomal dominant cone degeneration, central

69 urna((R)) for RPE65-related Leber congenital amaurosis before and after therapy.

70 ions in that region causing Leber congenital amaurosis blindness disrupt activation of the cyclase by

71 an Rpe65-/- mouse model of Leber congenital amaurosis but does not protect from cone degeneration.

72 on in humans diagnosed with Leber congenital amaurosis caused by mutations in the RPE65 gene, an inhe

73 Leber congenital amaurosis, caused by mutations in RPE65 and LRAT, is a s

74 attributed previously to Leber's congenital amaurosis, central areolar choroidal dystrophy and domin

75 5(-/-) mouse, a model for Leber's congenital amaurosis, cones degenerate much more rapidly than rods.

76 ving keratoplasty including Leber congenital amaurosis, depression, and diabetes.

77 Leber congenital amaurosis due to CEP290 ciliopathy is being explored by

78 tis pigmentosa, or dominant congenital Leber amaurosis (early-onset retinitis pigmentosa), and we ide

79 Mutations associated with Leber congenital amaurosis/early-onset blindness cause partial to total l

80 unrelated patients who had Leber congenital amaurosis for mutations in RPGRIP1 and found recessive m

81 CI 0.64-1.19; p=0.43), and higher than after amaurosis fugax (4.3% [95% CI 0.6-8.0]; p=0.042).

82 rior ischemic optic neuropathy (NA-AION) and amaurosis fugax (AF).

83 s in the vertebrobasilar territory; atypical amaurosis fugax and limb-shaking as TNAs in the carotid

84 Reoperation was performed for amaurosis fugax and transient ischemic attack (45%), pos

85 t with stroke, transient ischemic attack, or amaurosis fugax had occurred in the neurovascular territ

86 had a stroke, transient ischemic attack, or amaurosis fugax in the 180 days before enrollment) and w

87 ateral stroke, transient ischaemic attack or amaurosis fugax) as potential risks for CHS (all p</=0.1

88 ymptoms (stroke, transient ischemic attacks, amaurosis fugax) than in asymptomatic patients, and expr

89 vents (transient ischemic attack, stroke, or amaurosis fugax), due for carotid endarterectomy, were p

90 vents (transient ischemic attack, stroke, or amaurosis fugax), due for carotid endarterectomy, were p

91 ascular disease, and 26 (24%) presented with amaurosis fugax, 54 (49%) with transient ischemic attack

92 , acute onset of diffuse neurologic deficit, amaurosis fugax, acute renal failure, gut ischemia, live

93 tic or had had a transient ischaemic attack, amaurosis fugax, or a minor stroke were eligible for CRE

94 ut (n = 5222) visual symptoms (eg, diplopia, amaurosis fugax, vision loss).

95 chemic attack, cerebrovascular accident, and amaurosis fugax.

96 rs) with RPE65-associated Leber's congenital amaurosis given one subretinal injection of adeno-associ

97 mouse, used as a model for Leber congenital amaurosis, has slow rod degeneration and rapid cone loss

98 h subretinal injections for Leber congenital amaurosis have been mixed.

99 ials for the treatment of Leber's congenital amaurosis have provided evidence for successful in-vivo

100 -deficient mice, a model of Leber congenital amaurosis, have no rod photopigment and severely impaire

101 1 bp] mutation) and simplex Leber congenital amaurosis in two families (E168 [delta2 bp], G217 [delta

102 resents the case of a patient with bilateral amaurosis in whom the diagnosis of giant cell arteritis

103 ull allele is affected with Leber congenital amaurosis, it was surprising that her father, who had no

104 Rpe65(-/-) mouse model of Lebers congenital amaurosis (LCA) and in a Cpfl1 mouse with Pde6c defect m

105 Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) a

106 Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) a

107 on of Crx that causes human Leber congenital amaurosis (LCA) and resides within the NLS resulted in t

108 degeneration, most commonly Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP).

109 with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration

110 s supporting a diagnosis of Leber congential amaurosis (LCA) as an infant, her level of acuity and fu

111 res for a clinical trial of Leber congenital amaurosis (LCA) associated with mutations in the GUCY2D

112 Leber congenital amaurosis (LCA) associated with retinal pigment epitheli

113 is responsible for >10% of Leber congenital amaurosis (LCA) cases worldwide; LCA is characterized by

114 Leber congenital amaurosis (LCA) caused by mutations in Aryl hydrocarbon

115 subjects and patients with Leber congenital amaurosis (LCA) caused by mutations in GUCY2D, the gene

116 Leber congenital amaurosis (LCA) describes a more severe condition with v

117 Leber congenital amaurosis (LCA) encompasses a set of early-onset blindin

118 in the LCA5 gene underlying Leber congenital amaurosis (LCA) in the Spanish population and to describ

119 an Lrat(-/-) mouse model of Leber congenital amaurosis (LCA) in which retinal light sensitivity and o

120 Leber's congenital amaurosis (LCA) is a group of inherited blinding disease

121 Leber congenital amaurosis (LCA) is a hereditary early-onset retinal dyst

122 Leber's congenital amaurosis (LCA) is a known inherited retinal disease (IR

123 Leber congenital amaurosis (LCA) is a neurodegenerative disease of photor

124 Leber's congenital amaurosis (LCA) is a rare blinding disease, usually inhe

125 Leber congenital amaurosis (LCA) is a rare degenerative eye disease, link

126 Leber congenital amaurosis (LCA) is a severe disorder resulting in visual

127 Leber congenital amaurosis (LCA) is an autosomal recessive retinal dystro

128 Leber congenital amaurosis (LCA) is an early-onset inherited disorder of

129 Leber congenital amaurosis (LCA) is an infantile-onset form of inherited

130 Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that c

131 Gene therapy for Leber congenital amaurosis (LCA) is becoming available, and therefore it

132 Leber congenital amaurosis (LCA) is the most common cause of inherited re

133 Leber congenital amaurosis (LCA) is the most severe inherited retinal dys

134 Leber congenital amaurosis (LCA) patients (n = 10) and one patient with a

135 evastating blinding disease Leber congenital amaurosis (LCA) to Senior-Loken syndrome, Joubert syndro

136 mouse, which is a model of Leber congenital amaurosis (LCA) type 10 caused by mutations in the cilia

137 s typically associated with Leber congenital amaurosis (LCA) type I, with a number of patients retain

138 etinitis pigmentosa (RP) or Leber congenital amaurosis (LCA) using melting curve analysis and DNA seq

139 -deficient mice [a model of Leber congenital amaurosis (LCA) with rapid cone loss] and cone photorece

140 36 patients affected with Leber's congenital amaurosis (LCA), 62 with autosomal recessive retinitis p

141 (Aipl1) are associated with Leber congenital amaurosis (LCA), a childhood blinding disease with early

142 morphic mutations result in Leber congenital amaurosis (LCA), a form of early-onset retinal dystrophy

143 l manifestations, including Leber congenital amaurosis (LCA), a hereditary cause of blindness due to

144 Leber congenital amaurosis (LCA), a severe autosomal recessive childhood

145 gene coding for AIPL1 cause Leber congenital amaurosis (LCA), a severe form of childhood blindness.

146 Loss of RPGRIP causes Leber congenital amaurosis (LCA), a severe form of photoreceptor degenera

147 retinal synthesis and cause Leber congenital amaurosis (LCA), a severe hereditary blindness occurring

148 nsferase (LRAT) genes cause Leber congenital amaurosis (LCA), a severe visual impairment in humans.

149 been found in patients with Leber congenital amaurosis (LCA), a severe, early-onset form of retinal d

150 nd 11-cis-retinal and cause Leber congenital amaurosis (LCA), a severe, early-onset retinal dystrophy

151 as retinitis pigmentosa and Leber congenital amaurosis (LCA), affects approximately 1/3000 of the pop

152 od onset retinal blindness, Leber congenital amaurosis (LCA), and renal disease.

153 ardet Biedl syndrome (BBS), Leber congenital amaurosis (LCA), and retinitis pigmentosa.

154 -deficient mouse models for Leber Congenital Amaurosis (LCA), but exogenous supplementation of the na

155 tinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), comprise a group of disorders showing h

156 rm of blindness at birth, Leber's congenital amaurosis (LCA), is inherited in an autosomal recessive

157 GRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and

158 ed with autosomal recessive Leber congenital amaurosis (LCA), the most severe form of inherited retin

159 retinal recycling and cause Leber congenital amaurosis (LCA), the most severe retinal dystrophy in ea

160 tinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), which all lead to loss of vision.

161 ly disrupted in humans with Leber congenital amaurosis (LCA), which is caused by mutations in RPE65,

162 chicken and in humans with Leber congenital amaurosis (LCA)-1.

163 retinal synthesis and cause Leber congenital amaurosis (LCA).

164 form of retinal dystrophy, Leber congenital amaurosis (LCA).

165 orm of childhood blindness, Leber congenital amaurosis (LCA).

166 al human blindness known as Leber congenital amaurosis (LCA).

167 re a rare cause of dominant Leber congenital amaurosis (LCA).

168 (MD), and 24 patients with Leber congenital amaurosis (LCA).

169 hildhood blindness known as Leber congenital amaurosis (LCA).

170 is pigmentosa 12 (RP12) and Leber congenital amaurosis (LCA).

171 vere retinal degenerations, Leber congenital amaurosis (LCA).

172 (CORD) as well as dominant Leber congenital amaurosis (LCA).

173 RP, and in 45 patients with Leber congenital amaurosis (LCA).

174 n to treat RPE65-associated Leber congenital amaurosis (LCA).

175 childhood blindness due to Leber congenital amaurosis (LCA).

176 observed IRD followed by Leber's congenital amaurosis (LCA).

177 n RPE65 are associated with Leber congenital amaurosis (LCA).

178 inding diseases including Leber's Congenital Amaurosis (LCA).

179 hown to cause non-syndromic Leber congenital amaurosis (LCA).

180 cular diseases, including Leber's congenital amaurosis (LCA).

181 knockin (KI) mouse model of Leber congenital amaurosis (LCA).

182 ltransferase (LRAT) lead to Leber congenital amaurosis (LCA).

183 ndromic blinding disorder Leber's congenital amaurosis (LCA).

184 -nine individuals (88%) had Leber congenital amaurosis (LCA)/early-onset severe retinal dystrophy.

185 Leber congenital amaurosis (LCA, MIM 204000) accounts for at least 5% of

186 strophy (CORD; 10.94%), and Leber congenital amaurosis (LCA; 3.12%).

187 with congenital blindness (Leber congenital amaurosis [LCA] or retinitis pigmentosa [RP]).

188 indness (CSNB), recessive Leber's congenital amaurosis (LCA1), and dominant cone-rod dystrophy-6 (COR

189 J13 gene are known to cause Leber congenital amaurosis (LCA16), an inherited pediatric blindness.

190 Leber congenital amaurosis (LCA4) has been linked to mutations in the pho

191 PGx-001) in LCA5-associated Leber congenital amaurosis (LCA5-LCA), a congenital blindness.

192 retinitis pigmentosa, and Leber's congenital amaurosis matched well with data from previous studies.

193 R 4.87 [95% CI 4.07-5.82]), Leber congenital amaurosis (OR 2.41 [95% CI 1.02-5.71]), sleep apnea (OR

194 tinitis punctata albescens, Leber congenital amaurosis, or a related disease.

195 in retinitis pigmentosa and Leber congenital amaurosis patients did not reveal any obvious disease-ca

196 (GI), and 5 patients had a Leber congenital amaurosis phenotype.

197 W708R and I734T, linked to Leber congenital amaurosis prevented binding of both GCAP1-GFP and GCAP2-

198 suggest a model for INPP5E-Leber congenital amaurosis, proposing how deletion of INPP5E may interrup

199 animal ciliopathy model of Leber congenital amaurosis provides a path for translation to human treat

200 tations in NPHP5, a form of Leber congenital amaurosis, results in abnormal development, dysfunction,

201 lated macular degeneration, Leber congenital amaurosis, retinitis pigmentosa, and cone-rod dystrophy.

202 dness in animal models of Leber's congenital amaurosis, several groups proceeded with adeno-associate

203 d histories consistent with Leber congenital amaurosis (severely reduced vision, poorly responsive pu

204 intellectual disability and Leber congenital amaurosis (SHILCA), as well as some brain anomalies that

205 A Leber's congenital amaurosis, termed LCA1, involves F514S point mutation in

206 gous state in patients with Leber congenital amaurosis than predicted based on its heterozygosity fre

207 one degeneration resembling Leber congenital amaurosis that is nearly completed by postnatal day 21 (

208 f RPE65 are associated with Leber congenital amaurosis that results in rod and cone photoreceptor deg

209 na of two genetic models of Leber congenital amaurosis, the Crb1(rd8/rd8) and Gucy2e(-/-) mouse.

210 (-/-) mice, models of human Leber congenital amaurosis, the retinoid cycle is disrupted and 11-cis-re

211 eterogeneous and present as Leber Congenital Amaurosis, the severest form of early-onset retinal dyst

212 eles of CRX appear to cause Leber congenital amaurosis through a recessive or multigenic mechanism.

213 severe autosomal recessive Leber congenital amaurosis to later onset retinitis pigmentosa.

214 um of CRX-RDs, ranging from Leber congenital amaurosis to mild late-onset maculopathy resembling occu

215 sis of this animal model of Leber congenital amaurosis type 1 (LCA1), a disease that results from nul

216 Mutations in GUCY2D cause Leber congenital amaurosis type 1 (LCA1), an autosomal recessive human re

217 CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting

218 Leber congenital amaurosis type 10 is a severe retinal dystrophy caused b

219 Leber congenital amaurosis type 16 (LCA16) is a rare pediatric blindness

220 d to the congenital disease Leber congenital amaurosis Type 2 (LCA2) characterized by the early onset

221 p of 5 patients affected by Leber congenital amaurosis type 2 (LCA2) treated with a single unilateral

222 ombined Immunodeficiency, Leber's Congenital Amaurosis Type 2 and in cancer immunotherapy trials for

223 lize PDE6 and thereby cause Leber congenital amaurosis type 4 (LCA4), a severe form of childhood blin

224 nherited retinal dystrophy, Leber congenital amaurosis type 4 (LCA4), that manifests as the loss of v

225 epithelium of patients with Leber congenital amaurosis was noted as one of the most important clinica

226 viously was implicated in Leber's congenital amaurosis, was screened for mutations within this family

227 complications such as septal perforation and amaurosis were identified.

228 rly-onset retinal dystrophy Leber congenital amaurosis, whereas RDH11 has not been associated with hu

229 retinitis pigmentosa, and Leber's congenital amaurosis, which lead to loss of vision.

230 reatment of mouse models of Leber congenital amaurosis with 9-cis-BC and 9-cis-retinyl-acetate, a wel

231 e mammalian model of NMNAT1-Leber congenital amaurosis would assist in determining the mechanisms thr

232 for retinitis pigmentosa, Leber's congenital amaurosis, X-linked retinoschisis, Best's disease, Starg