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Publications by P Reynier

OPA3 Gene Mutations Responsible for Autosomal Dominant Optic Atrophy and Cataract

Journal of Medical Genetics

English

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Autosomal Recessive Optic Atrophy, OPA7 Type

English

Pattern of Retinal Ganglion Cell Loss in Dominant Optic Atrophy Due to OPA1 Mutations

Sensory Systems

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Autosomal Dominant Hereditary Spastic Paraplegia: Novel Mutations in the REEP1 Gene (SPG31)

BMC Medical Genetics

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Hereditary Optic Atrophy With Dominant Transmission and Early Onset

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

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Electrophysiological and Histologic Assessment of Retinal Ganglion Cell Fate in a Mouse Model forOPA1-Associated Autosomal Dominant Optic Atrophy

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

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Novel Heterozygous C243Y A20/Tnfaip3 Gene Mutation Is Responsible for Chronic Inflammation in Autosomal-Dominant Behçet's Disease

English

A Novel Mutation in the Connexin 46 Gene Causes Autosomal Dominant Congenital Cataract With Incomplete Penetrance

Journal of Medical Genetics

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Mutations in SEC63 Cause Autosomal Dominant Polycystic Liver Disease

Nature Genetics

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Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

American Journal of Human Genetics

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