Résultat de recherche

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

Marlène Rio, Nathalie Boddaert, Rima NABBOUT, Giulia Barcia, 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.

Arnold Munnich, Jean-Michel Rozet

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ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

Christine Bole, Patrick Nitschké, Arnold Munnich, Stanislas Lyonnet, Jean-Michel Rozet

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Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Jean-Michel Rozet

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

Patrick Nitschké, Arnold Munnich, Jean-Michel Rozet

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

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.

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

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

Arnold Munnich, Jean-Michel Rozet

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The ABCA4 gene in autosomal recessive cone-rod dystrophies.

Jean-Michel Rozet, Arnold Munnich

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Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.

Marion Coolen, Nami Altin, Karthyayani Rajamani , Giulia Barcia, Aurore POULIET, Patrick Nitschké, Nathalie Boddaert, Antonio Rausell, Lydie Burglen, Vincent Cantagrel

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