Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium

Guylène Le Meur, Knut Stieger, Alexander J. Smith, +11

Gene Therapy

BiologyRpe65-deficient Briard DogsOcular DiseasePhotoreceptor CellRetina +8

Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis

Isabelle Perrault, Sylvain Hanein, S. Gerber, +8

The American Journal of Human Genetics

Ocular DiseaseRetinaOphthalmologyGenetic DisorderGenetics +3

ER-mitochondria cross-talk is regulated by the Ca ²⁺ sensor NCS1 and is impaired in Wolfram syndrome

Claire Angebault, Jérémy Fauconnier, Simone Patergnani, +16

Science Signaling

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis

Aurélien Olichon, Thomas Landes, Laetitia Pelloquin, +10

Journal of Cellular Physiology

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

David Baux, Lise Larrieu, Catherine Blanchet, +12

Human Mutation

Usherin GeneDicysteine RepeatsNew Pathogenic AllelesGeneticsPathology +15

Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

Bozena Polok, Pascal Escher, Aude Ambresin, +9

The American Journal of Human Genetics

Genome InstabilityDevelopmental BiologyAmelogenesis ImperfectaGenetic DisorderGenetics +3

Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

David Baux, Catherine Blanchet, Christian Hamel, +10

Human Mutation

GeneticsExtensive Mutational SpectrumMolecular GeneticsDisease Gene IdentificationGenomics +15

Cloning of the Genes Encoding Two Murine and Human Cochlear Unconventional Type I Myosins

Fabien Crozet, A. Amraoui, Stéphane Blanchard, +11

Genomics

Genes Encoding TwoMolecular PhysiologyNatural SciencesGeneticsMolecular Biology +5

The Clinical Phenotype of <i>CNGA3</i> -Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial

Ditta Zobor, Annette Werner, Franco Stanzial, +9

Investigative Ophthalmology & Visual Science

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

Juan Manuel Chao de la Barca, Delphine Mirebeau‐Prunier, Patrizia Amati‐Bonneau, +14

Neurobiology of Disease

Clinical DisordersAutoimmune DiseasePsychiatryClinical ExpressionGenetic Disorder +3