Laporte, Jocelyn Franck

Top Publications

Top Publications Authored or Co-Authored by "Laporte, Jocelyn Franck"

• Guidelines for the use and interpretation of assays for monitoring autophagy

  Autophagy, Volume 8, No. 4, Year 2012, Citations 2851
• Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

  American Journal of Human Genetics, Volume 72, No. 5, Year 2003, Citations 278
• Mutation spectrum in the large gtpase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

  Human Mutation, Volume 33, No. 6, Year 2012, Citations 116
• GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

  Annals of Neurology, Volume 88, No. 2, Year 2020, Citations 34