A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
Statland JM, Barohn RJ, McVey AL, Katz JS, Dimachkie MM. Patterns of weakness, classification of motor neuron disease,…
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle
Kampinga HH, Andreasson C, Barducci A, Cheetham ME, Cyr D, Emanuelsson C, et al. Function, evolution, and structure…