Hopital de L'antiquaille

Top Publications

Top Publications Authored or Co-Authored in "Hopital de L'antiquaille"

• Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

  Nature Genetics, Volume 34, No. 2, Year 2003, Citations 2691
• Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

  American Journal of Human Genetics, Volume 70, No. 3, Year 2002, Citations 565
• Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)

  Cytogenetics and Cell Genetics, Volume 65, No. 4, Year 1994, Citations 53
• Post-prandial metabolism of triglyceride-rich lipoproteins in non-insulin-dependent diabetic patients before and after bezafibrate treatment

  European Journal of Clinical Investigation, Volume 27, No. 1, Year 1997, Citations 30