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Leber Congenital Amaurosis 4

Known as: LCA4 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2000-2017
012320002017

Related topics

Related topics

3 relations
Autosomal recessive inheritancePendular Nystagmus

Broader (1)

Leber Congenital Amaurosis

Related mentions per year

Related mentions per year

1937-2018
19401960198020002020
Leber Congenital Amaurosis 4
Autosomal recessive inheritance
Leber Congenital Amaurosis
Pendular Nystagmus

Papers overview

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2014
2014
Early alteration of retinal neurons in Aipl1-/- animals.
PURPOSE Mutations in the photoreceptor cell-specific gene encoding aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1… (More)
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2013
2013
Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety.
Aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) is a photoreceptor specific chaperone of the visual effector enzyme… (More)
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2011
2011
Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy.
PURPOSE To evaluate the suitability of gene delivery-based approaches as potential treatment of Leber congenital amaurosis 4… (More)
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2011
2011
Fighting blindness with adeno-associated virus serotype 8.
The paper by Mihelec and colleagues in the current issue of Human Gene Therapy highlights the potential of adenoassociated virus… (More)
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2005
2005
Gene symbol: AIPL1. Disease: LCA4.
 
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2004
2004
Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase.
Leber congenital amaurosis (LCA4) has been linked to mutations in the photoreceptor-specific gene Aryl hydrocarbon interacting… (More)
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2003
2003
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.
Originally described by Theodore Leber in 1869, Leber congenital amaurosis (LCA, MIM 204000) is the most early and severe form of… (More)
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Highly Cited
2000
Highly Cited
2000
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
Leber congenital amaurosis (LCA, MIM 204000) accounts for at least 5% of all inherited retinal disease and is the most severe… (More)
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2000
2000
A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.
PURPOSE A two-generation consanguineous Pakistani family with autosomal recessive Leber congenital amaurosis (LCA, MIM 204,000… (More)
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Highly Cited
2000
Highly Cited
2000
Prevalence of AIPL1 mutations in inherited retinal degenerative disease.
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy and the most frequent cause of inherited… (More)
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