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Publications by Neil Ebenezer

Mutations in theUBIAD1Gene on Chromosome Short Arm 1, Region 36, Cause Schnyder Crystalline Corneal Dystrophy

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Related publications

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Multidisciplinary

English

Central Crystalline Corneal Dystrophy.

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Borate Transporter SLC4A11 Mutations Cause Both Harboyan Syndrome and Non-Syndromic Corneal Endothelial Dystrophy

Journal of Medical Genetics

English

Hereditary Crystalline Stromal Dystrophy of Schnyder. I. Clinical Features of a Family With Hyperlipoproteinaemia.

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Clinical Diversity in Patients With Schnyder Corneal Dystrophy—a Novel and Known UBIAD1 Pathogenic Variants

Graefe's Archive for Clinical and Experimental Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Schnyder Corneal Dystrophy-Associated UBIAD1 Is Defective in MK-4 Synthesis and Resists Autophagy-Mediated Degradation

Journal of Lipid Research

English

Linkage Analysis of Two Cloned DNA Sequences Flanking the Duchenne Muscular Dystrophy Locus on the Short Arm of the Human X Chromosome

Nucleic Acids Research

English

Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, With Homoallelism for Mutations in RPE65 or MERTK, Respectively

American Journal of Human Genetics

English

Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

American Journal of Human Genetics

English