Résultat de recherche

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Vincent Cantagrel, Stanislas Lyonnet

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

Vincent Cantagrel, Jean-Laurent CASANOVA

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AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.

Vincent Cantagrel

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CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

Vincent Cantagrel

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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

Céline Huber, Meriem Garfa-Traoré , Christine Bole, Patrick Nitschké, Françoise Clerget-Darpoux, Arnold Munnich, Stanislas Lyonnet, Sophie Saunier, Valérie Cormier-Daire, Tania Attié-Bitach, Sophie Thomas

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Cilia in hereditary cerebral anomalies.

Sophie Thomas, Lucile Boutaud, Alexandre Benmerah

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Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.

Tania Attié-Bitach, Sophie Thomas

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TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Sophie Thomas, Sophie Saunier, Tania Attié-Bitach

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A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.

Sophie Thomas, Jeanne Amiel, Jean-Laurent CASANOVA , Nathalie Boddaert, Stanislas Lyonnet, Arnold Munnich, Lydie Burglen, Sophie Saunier, Tania Attié-Bitach

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Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Marlène Rio, Sophie Thomas, Tania Attié-Bitach, Jean-Michel Rozet

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TCTN3 mutations cause Mohr-Majewski syndrome.

Sophie Thomas, Sophie Saunier, Yves Ville, Patrick Nitschké, Stanislas Lyonnet, Arnold Munnich, Valérie Cormier-Daire, Tania Attié-Bitach

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