Papers: 10.1186/s13023-014-0141-5

https://doi.org/10.1186/s13023-014-0141-5

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

Cited by: 25
Author(s): Sylvia Stöckler, Silvia Corvera, David G. Lambright, Kevin E. Fogarty, Ekaterina Nosova, Deborah Marie Leonard, Robert Steinfeld, Cameron Ackerley, Casper Shyr, Nicholas Au, Kathrin Selby, Margot Van Allen, Hilary Vallance, Ron A. Wevers, David Watkins, David S. Rosenblatt, Colin J.D. Ross, Elizabeth Conibear, Wyeth W. Wasserman, Clara van Karnebeek
Published: almost 11 years ago

Software Mentions 1