Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

This publication has 23 references indexed in Scilit:

• Molecular basis of muscular dystrophies
  Muscle & Nerve, 2000
• Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate Gene
  American Journal of Human Genetics, 2000
• A Tripartite Nuclear Localization Signal in the PDZ-domain Protein L-periaxin
  Published by Elsevier ,2000
• Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
  Human Mutation, 1999
• Protein modules as organizers of membrane structure
  Current Opinion in Cell Biology, 1999
• Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
  Nature Genetics, 1998
• Rho, Rac and Cdc42 GTPases regulate the organization of the actin cytoskeleton
  Current Opinion in Cell Biology, 1997
• Periaxin, a novel protein of myelinating schwann cells with a possible role in axonal ensheathment
  Published by Elsevier ,1994
• Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
  Nature Genetics, 1993
• De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III)
  Nature Genetics, 1993