Associated Papers
Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR.
Minaidou A et al.
Plos One, 2019
LRSAM1 Depletion Affects Neuroblastoma SH-SY5Y Cell Growth and Morphology: The LRSAM1 c.2047-1G>A Loss-of-Function Variant Fails to Rescue The Phenotype.
Minaidou A et al.
Cell Journal, 2018
A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease.
Zhao G et al.
Journal of the Peripheral Nervous System : Jpns, 2018
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF et al.
Journal of Neurochemistry, 2017
A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance.
Engeholm M et al.
Bmc Neurology, 2014
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.
Nicolaou P et al.
European Journal of Human Genetics : Ejhg, 2013
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