Résultat de recherche

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Jeanne Amiel, Jean-Michel Rozet, Jean-Michel Rozet

Source :

Pmid / DOI:

Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.

Jean-Michel Rozet

Source :

Pmid / DOI:

Risk of Tuberculosis Infection among Healthcare Workers in a Tertiary Care Hospital in Bengaluru City.

Source :

Pmid / DOI:

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.

Jean-Michel Rozet

Source :

Pmid / DOI:

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.

Laurence Hubert, Jean-Michel Rozet, Arnold Munnich, Claude Besmond

Source :

Pmid / DOI:

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Olivier Pellé, Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Jean-Michel Rozet

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

Reply: The expanding neurological phenotype of DNM1L-related disorders.

Nathalie Boddaert, Marlène Rio, Jean-Michel Rozet

Source :

Pmid / DOI:

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Jean-Michel Rozet

Source :

Pmid / DOI:

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Meriem Garfa-Traoré , Aurore POULIET, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet, Sandrine Marlin

Source :

Pmid / DOI:

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

Nathalie Boddaert, Marlène Rio, Jean-Michel Rozet

Source :

Pmid / DOI: