Re-analysis of an originalCMTX3family using exome sequencing identifies a knownBSCL2mutation

N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress

(2011) Takuya Yagi et al.   HUMAN MOLECULAR GENETICS

Characterization of inclusion bodies with cytoprotective properties formed by seipinopathy-linked mutant seipin

(2011) Daisuke Ito et al.   HUMAN MOLECULAR GENETICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

(2010) H. Skre   CLINICAL GENETICS

Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17

(2008) Daisuke Ito et al.   NEUROBIOLOGY OF DISEASE

Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region

(2008) Megan Brewer et al.   NEUROGENETICS