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Single‐base substitutions in the CHM promoter as a cause of choroideremia

Human mutation, 2017-06, Vol.38 (6), p.704-715

2017

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Mitogen and stress-activated kinases 1/2 regulate ischemia-induced hippocampal progenitor cell proliferation and neurogenesis

Neuroscience, 2015-01, Vol.285, p.292-302

2015

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Docosahexaenoic Acid Slows Visual Field Progression in X-Linked Retinitis Pigmentosa: Ancillary Outcomes of the DHAX Trial

Investigative ophthalmology & visual science, 2015-10, Vol.56 (11), p.6646-6653

2015

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Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations

PloS one, 2011-08, Vol.6 (8), p.e23021-e23021

2011

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DIAMOND (DHA Intake And Measurement Of Neural Development) Study: a double-masked, randomized controlled clinical trial of the maturation of infant visual acuity as a function of the dietary level of docosahexaenoic acid

The American journal of clinical nutrition, 2010-04, Vol.91 (4), p.848-859

2010

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Computational Modeling Predicts Simultaneous Targeting of Fibroblasts and Epithelial Cells Is Necessary for Treatment of Pulmonary Fibrosis

Frontiers in pharmacology, 2016-06, Vol.7, p.183-183

2016

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Safety assessment of docosahexaenoic acid in X-linked retinitis pigmentosa: the 4-year DHAX trial

Investigative ophthalmology & visual science, 2014-07, Vol.55 (8), p.4958-4966

2014

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Lung epithelial cell focal adhesion kinase signaling inhibits lung injury and fibrosis

American journal of physiology. Lung cellular and molecular physiology, 2017-05, Vol.312 (5), p.L722-L730

2017

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Rates of Decline in Regions of the Visual Field Defined by Frequency-Domain Optical Coherence Tomography in Patients with RPGR -Mediated X-Linked Retinitis Pigmentosa

Ophthalmology (Rochester, Minn.), 2015-04, Vol.122 (4), p.833-839

2015

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Living With Frontotemporal Degeneration: Diagnostic Journey, Symptom Experiences, and Disease Impact

Journal of geriatric psychiatry and neurology, 2023-05, Vol.36 (3), p.201-214

2023

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Protein Kinase Cδ Blocks Immediate-Early Gene Expression in Senescent Cells by Inactivating Serum Response Factor

Molecular and Cellular Biology, 2004-08, Vol.24 (16), p.7298-7311

2004

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Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa

Investigative ophthalmology & visual science, 2013-02, Vol.54 (2), p.1411-1416

2013

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An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation

Experimental eye research, 2018-06, Vol.171, p.48-53

2018

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Targeting Inhibitor of Apoptosis Proteins Protects from Bleomycin-Induced Lung Fibrosis

American journal of respiratory cell and molecular biology, 2016-04, Vol.54 (4), p.482-492

2016

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The vitronectin RGD motif regulates TGF-β-induced alveolar epithelial cell apoptosis

American journal of physiology. Lung cellular and molecular physiology, 2016-06, Vol.310 (11), p.L1206-L1217

2016

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Four-year placebo-controlled trial of docosahexaenoic acid in X-linked retinitis pigmentosa (DHAX trial): a randomized clinical trial

JAMA ophthalmology, 2014-07, Vol.132 (7), p.866

2014

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Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families

Molecular vision, 2017-07, Vol.23, p.470-481

2017

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North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene

Molecular vision, 2016-10, Vol.22, p.1239-1247

2016

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X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa

Ophthalmology retina, 2020-05, Vol.4 (5), p.510-520

2020

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Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers

Investigative ophthalmology & visual science, 2016-02, Vol.57 (2), p.349-359

2016

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Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP)

Advances in experimental medicine and biology, 2018, Vol.1074, p.237-245

2018

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Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies

JAMA ophthalmology, 2015-05, Vol.133 (5), p.511

2015

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Docosahexaenoic Acid in Red Blood Cells of Term Infants Receiving Two Levels of Long‐Chain Polyunsaturated Fatty Acids

Journal of pediatric gastroenterology and nutrition, 2006-03, Vol.42 (3), p.287-292

2006

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Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP)

Advances in experimental medicine and biology, 2016-01, Vol.854, p.193-200

2016

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Single‐base substitutions in the CHM promoter as a cause of choroideremia

Mitogen and stress-activated kinases 1/2 regulate ischemia-induced hippocampal progenitor cell proliferation and neurogenesis

Docosahexaenoic Acid Slows Visual Field Progression in X-Linked Retinitis Pigmentosa: Ancillary Outcomes of the DHAX Trial

Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations

DIAMOND (DHA Intake And Measurement Of Neural Development) Study: a double-masked, randomized controlled clinical trial of the maturation of infant visual acuity as a function of the dietary level of docosahexaenoic acid

Computational Modeling Predicts Simultaneous Targeting of Fibroblasts and Epithelial Cells Is Necessary for Treatment of Pulmonary Fibrosis

Safety assessment of docosahexaenoic acid in X-linked retinitis pigmentosa: the 4-year DHAX trial

Lung epithelial cell focal adhesion kinase signaling inhibits lung injury and fibrosis

Rates of Decline in Regions of the Visual Field Defined by Frequency-Domain Optical Coherence Tomography in Patients with RPGR -Mediated X-Linked Retinitis Pigmentosa

Living With Frontotemporal Degeneration: Diagnostic Journey, Symptom Experiences, and Disease Impact

Protein Kinase Cδ Blocks Immediate-Early Gene Expression in Senescent Cells by Inactivating Serum Response Factor

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa

An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation

Targeting Inhibitor of Apoptosis Proteins Protects from Bleomycin-Induced Lung Fibrosis

The vitronectin RGD motif regulates TGF-β-induced alveolar epithelial cell apoptosis

Four-year placebo-controlled trial of docosahexaenoic acid in X-linked retinitis pigmentosa (DHAX trial): a randomized clinical trial

Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families

North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene

X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers

Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP)

Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies

Docosahexaenoic Acid in Red Blood Cells of Term Infants Receiving Two Levels of Long‐Chain Polyunsaturated Fatty Acids

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP)

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