Publications and ressources

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Luís Seabra, Yanick Crow , Marie-Louise Frémond, Alice Lepelley, Isabelle Melki

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Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

Sophie Saunier

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Hematopoietic Stem Cell Transplant for the Treatment of X-MAID.

Chantal LAGRESLE-PEYROU, Bénédicte Neven

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Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.

Isabelle PERRAULT, Marlène Rio, Jean-Michel Rozet

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Recent advances in the understanding and therapeutic management of mastocytosis.

Laura Polivka, Leila Maouche-Chrétien, Laurent Frenzel, Olivier Hermine

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Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.

Sandrine Marlin, Jean-Michel Rozet, Isabelle PERRAULT

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Lessons to Learn From Low-Dose Cyclosporin-A: A New Approach for Unexpected Clinical Applications.

Olivier Hermine

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Diacerein orphan drug development for epidermolysis bullosa simplex: A phase 2/3 randomized, placebo-controlled, double-blind clinical trial.

Alain Hovnanian

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AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.

Patrick Nitschké, Karine Siquier

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NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

Giulia Barcia, Agnès Rötig

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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Benedetta RUZZENENTE, Arnold Munnich, Agnès Rötig, Metodi METODIEV

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Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Floriane PETIT, Chris OTTOLENGHI, Metodi METODIEV, Arnold Munnich, Agnès Rötig

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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

Johanne Dubail, Céline Huber, Jeanne Amiel, Arnold Munnich, Muriel de la Dure-Molla, Valérie Cormier-Daire, Chris Gordon

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Left-right asymmetry in heart development and disease: forming the right loop.

Audrey Desgrange, Sigolène Meilhac

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Genetic diagnosis of Mendelian disorders via RNA sequencing.

Agnès Rötig

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