Kaplan, Josseline

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

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Defective myosin VIIA gene responsible for Usher syndrome type IB

Well, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., et al. (1995) · Nature

Retinal Development and DisordersGenetic and Kidney Cyst Diseases

Cited by 1,068

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

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The γ e4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration

Souied, E. H., Benlian, P., Amouyel, P., Feingold, J., Lagarde, J.-P., Munnich, A., Kaplan, J., Coscas, G., & Soubrane, G. (1998) · American Journal of Ophthalmology

Retinal Diseases and TreatmentsLipoproteins and Cardiovascular Health

Cited by 292

FDXR mutations cause sensorial neuropathies and expand the spectrum of mitochondrial Fe-S-synthesis diseases

Paul, A., Drecourt, A., Petit, F., Deguine, D. D., Vasnier, C., Oufadem, M., Masson, C., Bonnet, C., Masmoudi, S., Mosnier, I., et al. (2017) · The American Journal of Human Genetics

Mitochondrial Function and PathologyHereditary Neurological Disorders

Cited by 95

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

Perrault, I., Hamdan, F. F., Rio, M., Capo-Chichi, J.-M., Boddaert, N., Décarie, J.-C., Maranda, B., Nabbout, R., Sylvain, M., Lortie, A., et al. (2014) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

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