Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver Syndrome
Windpassinger C, Auer-Grumbach M, Irobi J, et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver Syndrome, flat Genet. 2004;36:271-276.
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
Dürr A, Camuzat A, Colin E, et al. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol. 2004;61:1867-1872.
Cellular localization, oligomerization and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin
Zhu PP, Patterson A, Lavoie B, et al. Cellular localization, oligomerization and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. J Biol Chem. 2003;278:49063-49071.
Novel mutations in the atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus
Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J. Novel mutations in the atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat. 2004;23:98-104.
Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A
Xia CH, Roberts EA, Her LS, et al. Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A. J Cell Biol. 2003;161:55-66.