Hamel, Christian P.

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Delettre, C., Lenaers, G., Griffoin, J.-M., Gigarel, N., Lorenzo, C., Belenguer, P., Pelloquin, L., Grosgeorge, J., Turc-Carel, C., Perret, E., et al. (2000) · Nature Genetics

Mitochondrial Function and PathologyHereditary Neurological Disorders

Cited by 1,446

Retinitis pigmentosa

Hamel, C. (2006) · Orphanet Journal of Rare Diseases

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 962

Mutations in RPE65 cause Leber's congenital amaurosis

Marlhens, F., Bareil, C., Griffoin, J.-M., Zrenner, E., Amalric, P., Eliaou, C., Liu, S.-Y., Harris, E., Redmond, T. M., Arnaud, B., et al. (1997) · Nature Genetics

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 606

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Barbet, F., Ducroq, D., Calvas, P., Dollfus, H., Hamel, C., Lopponen, T., et al. (2004) · Human Mutation

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 350

Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65

Lorenz, B., Wabbels, B., Wegscheider, E., Hamel, C. P., Drexler, W., & Preising, M. N. (2004) · Ophthalmology

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 172

Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient

Cereso, N., Pequignot, M. O., Robert, L., Becker, F., De Luca, V., Nabholz, N., Rigau, V., De Vos, J., Hamel, C. P., & Kalatzis, V. (2014) · Molecular Therapy - Methods & Clinical Development

Retinal Development and DisordersVirus-based gene therapy research

Cited by 72

Screening genes of the retinoid metabolism: Novel LRAT mutation in leber congenital amaurosis

Sénéchal, A., Humbert, G., Surget, M.-O., Bazalgette, C., Bazalgette, C., Arnaud, B., Arndt, C., Laurent, E., Brabet, P., & Hamel, C. P. (2006) · American Journal of Ophthalmology

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 46

Early-Onset Foveal Involvement in Retinitis Punctata Albescens With Mutations in RLBP1

Dessalces, E., Bocquet, B., Bourien, J., Zanlonghi, X., Verdet, R., Meunier, I., & Hamel, C. P. (2013) · JAMA Ophthalmology

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 41

A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium

Meunier, I., Lenaers, G., Bocquet, B., Baudoin, C., Piro-Megy, C., Cubizolle, A., Quilès, M., Jean-Charles, A., Cohen, S. Y., Merle, H., et al. (2016) · Human Molecular Genetics

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 16