Associated Papers
Expression of amyotrophic lateral sclerosis associated protein disulfide isomerase A3 D217N variant recapitulates early morphological alterations at the neuromuscular junction.
Sepulveda M et al.
Neurobiology of Disease, 2025
Expression of protein disulfide isomerase A3Q481K variant associated with amyotrophic lateral sclerosis triggers disease features in mice.
Sepulveda M et al.
Neurobiology of Disease, 2025
ALS-linked protein disulfide isomerase variants cause motor dysfunction.
Woehlbier U et al.
The Embo Journal, 2016
Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients.
Gonzalez-Perez P et al.
Gene, 2015
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