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Publications by Mark Samuels

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

Multidisciplinary

English

Des Mutations Dans L’exonHSN2du gèneWNK1causent La Neuropathie Héréditaire Sensitive Et Autonomique De Type 2

Medecine/Sciences

Molecular Biology

English

Related publications

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

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

Central Crystalline Corneal Dystrophy.

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2

American Journal of Human 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

Truncating Mutations in the Carbohydrate Sulfotransferase 6 Gene (CHST6) Result in Macular Corneal Dystrophy

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Mutations in the PCYT1A Gene Are Responsible for Isolated Forms of Retinal Dystrophy

European Journal of Human Genetics

English

Advanced Corneal Imaging for Fuchs Endothelial Corneal Dystrophy

English