Gugenheim, Michel

Top Publications

Top Publications Authored or Co-Authored by "Gugenheim, Michel"

• Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases

  Brain, Volume 120, No. 5, Year 1997, Citations 250
• X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: Clinical and electrophysiologic study

  Neurology, Volume 50, No. 4, Year 1998, Citations 167
• Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion

  Neurology, Volume 45, No. 11, Year 1995, Citations 128
• Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 Cx32 mutations in 35 families

  Human Mutation, Volume 10, No. 6, Year 1997, Citations 63
• Recombination hot spot in a 3.2-kb Region of the Charcot-Marie-Tooth type 1A repeat sequences: New tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A

  American Journal of Human Genetics, Volume 58, No. 6, Year 1996, Citations 59