Fischbeck, Kenneth H.

Top Publications

Top Publications Authored or Co-Authored by "Fischbeck, Kenneth H."

• Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

  Nature Genetics, Volume 42, No. 2, Year 2010, Citations 290
• Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations

  Annals of Neurology, Volume 49, No. 6, Year 2001, Citations 236
• Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

  American Journal of Human Genetics, Volume 91, No. 6, Year 2012, Citations 127
• Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

  Brain, Volume 133, No. 6, Year 2010, Citations 103
• Hereditary spastic paraplegia Type 43 (SPG43) is caused by mutation in C19orf12

  Human Mutation, Volume 34, No. 10, Year 2013, Citations 71