Associated Papers
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
Geroldi A et al.
Journal of Medical Genetics, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
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 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
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
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.
Hakonen JE et al.
Human Molecular Genetics, 2017
Genetic Spectrum of Inherited Neuropathies in India.
Sharma S et al.
Annals of Indian Academy of Neurology, 0
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