Informazioni sui membri
Pr Isabelle MEUNIER
Francia
Team
Centro HCP
contatti
Reference Center Rare Diseases ‘Genetic Sensory Diseases’, MAOLYA, Montpellier, France
Test clinici
A Multicenter Prospective Observational « Natural History » Study in Patients With Choroideremia.
Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci/Genes.
Gene therapy study on choroideremia : to assess the safety and tolerability of the AAV.REP1 vector, administered at two different doses to the retina in patients with a diagnosis of choroideremia.
Safety and Efficacy of a Unilateral Subretinal Administration of HORA-PDE6B in Patients With Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6ß Expression
Natural history of the progression of X-linked retinitis pigmentosa.
A pivotal, international, randomised, double-blind, efficacy and safety trial of sodium valporate in paediatric and adult patients with Wolfram Syndrome
Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RetinitisPigmentosa Due to Mutations in Exon 13 of the USH2A Gene (Stellar)
Natural History of the Progression of Choroideremia Study NSR-CHM-OS1.
A Long-term Follow-up Study to Evaluate the Safety and efficacy of Retinal Gene Therapy in Subjects with choroideremia treated previously with Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) in an Antecedent Study.
Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy.
A Prospective Observational Study of Patients Receiving Dupixent® for Atopic Dermatitis
Pubblicazioni scientifiche
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
L'acromatopsia (ACHM) è un disturbo ereditario dei fotorecettori dei coni caratterizzato dall'incapacità di discriminare i colori, nistagmo, fotofobia,...
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders
Uno studio completo che applica il sequenziamento diretto di Sanger delle regioni codificanti il gene, il sequenziamento dell'esoma e del genoma applicato a un'ampia coorte di...
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Utilizzando ipotesi parsimoniose, abbiamo ricostruito la composizione e il numero di copie del cluster di geni OPN1LW/OPN1MW prima dell'evento di mutazione...
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort
Il nostro studio supporta precedenti segnalazioni di una sindrome da disfunzione RP-olfattiva autosomica recessiva in associazione con alcune malattie che causano...