Azzedine, Hamid

Top Publications

Top Publications Authored or Co-Authored by "Azzedine, Hamid"

• Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

  Nature Genetics, Volume 39, No. 3, Year 2007, Citations 309
• Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

  American Journal of Human Genetics, Volume 72, No. 5, Year 2003, Citations 278
• Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

  Brain, Volume 131, No. 3, Year 2008, Citations 213
• Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

  Neurology, Volume 67, No. 4, Year 2006, Citations 102
• Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C

  Brain, Volume 127, No. 1, Year 2004, Citations 81