Disease: Charcot-Marie-Tooth disease- Type 4B2
- A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)
- An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination
- Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families
- Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans
- Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing <em>SBF2 (MTMR13)</em> genetic variant: a new spontaneous clinical model
- Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2
- Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing
- Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice
- Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15
- Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2
- Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth