Associated Papers
Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.
Reilich P et al.
Neuromuscular Disorders : Nmd, 2021
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
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.
Hakonen JE et al.
Human Molecular Genetics, 2017
A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance.
Engeholm M et al.
Bmc Neurology, 2014
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