Publications and ressources

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Jean-Michel Rozet, Isabelle Perrault

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IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Isabelle Perrault, Sophie Saunier, Valérie Cormier-Daire, Sophie Thomas, Tania Attié-Bitach, Nathalie Boddaert, Meriem Garfa-Traoré , Jean-Michel Rozet

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Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.

Isabelle Perrault, Arnold Munnich, Jean-Michel Rozet

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Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Isabelle Perrault, Marlène Rio, Nathalie Boddaert, Rima NABBOUT, Giulia Barcia, Arnold Munnich, Jean-Michel Rozet

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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

Isabelle Perrault, Patrick Nitschké, Arnold Munnich, Jean-Michel Rozet

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AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

Isabelle Perrault, Arnold Munnich, Jean-Michel Rozet

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Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Isabelle Perrault, Sophie Saunier, Patrick Nitschké, Arnold Munnich, Corinne Antignac, Valérie Cormier-Daire, Jean-Michel Rozet

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TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

Isabelle Perrault, Marlène Rio, Nathalie Boddaert, Agnès Rötig, Arnold Munnich, Jean-Michel Rozet

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Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

Isabelle Perrault, Arnold Munnich, Jean-Michel Rozet

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Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial.

Isabelle Perrault, Jean-Michel Rozet, Arnold Munnich

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