Associated Papers
LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond.
Palaima P et al.
Orphanet Journal of Rare Diseases, 2021
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 Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype.
Peddareddygari LR et al.
Case Reports in Neurology, 0
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