Works matching DE "LEBER'S congenital amaurosis"
Results: 42
Clinical features and mutation of NPHP5 in two Chinese siblings with Senior- Løken syndrome.
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- Nephrology, 2013, v. 18, n. 12, p. 838, doi. 10.1111/nep.12156
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- Article
Leber's Hereditary Optic Neuropathy-Not Just a Young Men's Disease.
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- 2016
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- Publication type:
- Letter to the Editor
Perioperative management of patients with genetic multisystem diseases associated with pre-excitation.
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- Anaesthesiology Intensive Therapy / Anestezjologia, Intensywna Terapia, 2019, v. 51, n. 2, p. 133, doi. 10.5114/ait.2019.86278
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- Article
Oculodigital Sign: A Clinical Clue for Diagnosis.
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- 2022
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- Publication type:
- Letter to the Editor
Leber's hereditary optic neuropathy: Report of a simple case associated with a rare variant mutation.
- Published in:
- 2017
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- Publication type:
- Case Study
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2016, v. 254, n. 11, p. 2227, doi. 10.1007/s00417-016-3428-5
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- Article
Curing blindness: Vision quest.
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- Nature, 2014, v. 513, n. 7517, p. 160, doi. 10.1038/513160a
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- Article
Antibody neutralization poses a barrier to intravitreal adeno-associated viral vector gene delivery to non-human primates.
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- Gene Therapy, 2015, v. 22, n. 2, p. 116, doi. 10.1038/gt.2014.115
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- Article
Ocular gene therapy: introduction to the special issue.
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- Gene Therapy, 2012, v. 19, n. 2, p. 119, doi. 10.1038/gt.2011.189
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- Article
Gene supplementation therapy for recessive forms of inherited retinal dystrophies.
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- Gene Therapy, 2012, v. 19, n. 2, p. 154, doi. 10.1038/gt.2011.161
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- Article
FDA-approved drug shows promise in lab models for blinding childhood disease.
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- Neonatology Today, 2023, v. 18, n. 4, p. 163
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- Article
Genetic therapies offer new pathways for ophthalmic disorders.
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- Ocular Surgery News, 2017, v. 35, n. 20, p. 17
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- Article
Behind the Lab Door.
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- Ocular Surgery News, 2012, v. 30, n. 12, p. 10
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- Article
Industry Pipeline.
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- Ocular Surgery News, 2011, v. 29, n. 24, p. 22
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- Article
Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis.
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- Frontiers in Molecular Neuroscience, 2014, v. 7, p. 1, doi. 10.3389/fnmol.2014.00044
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- Article
Insights gained from gene therapy in animal models of retGC1 deficiency.
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- Frontiers in Molecular Neuroscience, 2014, v. 7, p. 1, doi. 10.3389/fnmol.2014.00043
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- Publication type:
- Article
One good match permits another—why HLA-matched blood transfusion makes sense.
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- 2013
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- Publication type:
- Case Study
Senior-Loken Syndrome with Rare Manifestations: A Case Report.
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- Eurasian Journal of Medicine, 2013, v. 45, n. 2, p. 128, doi. 10.5152/eajm.2013.25
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- Publication type:
- Article
Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.
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- Journal of Genetics, 2014, v. 93, n. 2, p. 527, doi. 10.1007/s12041-014-0394-8
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- Publication type:
- Article
Retinal structure in Leber's congenital amaurosis caused by RPGRIP1 mutations.
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- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0064-8
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- Article
Plasticity of the human visual system after retinal gene therapy in patients with Leber’s congenital amaurosis.
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- Science Translational Medicine, 2015, v. 7, n. 296, p. 1, doi. 10.1126/scitranslmed.aaa8791
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- Article
The Role of TRiC-enhanced Actin Folding in Leber Congenital Amaurosis.
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- Journal of Ophthalmic & Vision Research, 2023, v. 18, n. 1, p. 60, doi. 10.18502/jovr.v18i1.12726
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- Publication type:
- Article
CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings.
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- Journal of Ophthalmic & Vision Research, 2019, v. 14, n. 4, p. 518, doi. 10.18502/jovr.v14i4.5467
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- Publication type:
- Article
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re‐sequencing.
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- Clinical Genetics, 2018, v. 93, n. 2, p. 329, doi. 10.1111/cge.13159
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- Article
The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.
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- 2016
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- Publication type:
- journal article
Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 3, p. 753, doi. 10.3390/ijms19030753
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- Article
FDA grants rare pediatric disease designation for Leber congenital amaurosis gene therapy.
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- Ocular Surgery News, 2024, v. 42, n. 18, p. 34
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- Article
INDUSTRY PIPELINE.
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- Ocular Surgery News, 2024, v. 42, n. 8, p. 24
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- Article
Positive early safety, efficacy data reported for Leber congenital amaurosis gene therapy.
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- Ocular Surgery News, 2024, v. 42, n. 2, p. 40
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- Article
Safety profile for sepofarsen for Leber congenital amaurosis 'manageable'.
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- Ocular Surgery News, 2021, v. 39, n. 1, p. 8
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- Article
Bilateral VA gains achieved with LHON gene therapy.
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- Ocular Surgery News, 2019, v. 37, n. 22, p. 13
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- Article
Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast.
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- BMC Ophthalmology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12886-015-0085-0
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- Article
Available Evidence on Leber Congenital Amaurosis and Gene Therapy.
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- 2017
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- Publication type:
- journal article
Leber Hereditary Optic Neuropathy.
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- Iranian Journal of Child Neurology, 2013, v. 7, n. 4, p. 24
- Publication type:
- Article
Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7.
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- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-2595-4
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- Publication type:
- Article
OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness.
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- Journal of Clinical Investigation, 2014, v. 124, n. 2, p. 631, doi. 10.1172/JCI72722
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- Article
Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.
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- Documenta Ophthalmologica, 2014, v. 128, n. 3, p. 219, doi. 10.1007/s10633-014-9436-z
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- Article
Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort.
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- Journal of Ophthalmology, 2021, p. 1, doi. 10.1155/2021/9966427
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- Article
Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians.
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- Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. 1, doi. 10.1186/s13052-019-0760-5
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- Article
Gene Therapy Using Neuroprotective Factors in Glaucoma.
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- Journal of Nippon Medical School, 2014, v. 81, n. 1, p. 59, doi. 10.1272/jnms.81.59
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- Article
Therapeutic Options in Hereditary Optic Neuropathies.
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- Drugs, 2021, v. 81, n. 1, p. 57, doi. 10.1007/s40265-020-01428-3
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- Article
Idebenone: A Review in Leber's Hereditary Optic Neuropathy.
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- Drugs, 2016, v. 76, n. 7, p. 805, doi. 10.1007/s40265-016-0574-3
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- Publication type:
- Article