Jean‐Claude Kaplan
Délégation Paris 5(FR)Université Paris Cité(FR)Sorbonne Paris Cité(FR)Hôpital Cochin(FR)Assistance Publique – Hôpitaux de Paris(FR)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Neonatal Health and Biochemistry, Neurogenetic and Muscular Disorders Research, Erythrocyte Function and Pathophysiology, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism(1994)768 cited
- → Rescue of Dystrophic Muscle Through U7 snRNA-Mediated Exon Skipping(2004)474 cited
- Phenotypic Characterization of Individuals with 30–40 CAG Repeats in the Huntington Disease (HD) Gene Reveals HD Cases with 36 Repeats and Apparently Normal Elderly Individuals with 36–39 Repeats(1996)
- → Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy(1994)456 cited
- → Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase(2009)365 cited
- → Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle(1991)262 cited