Martin PB, et al. (2020) NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun 11(1):4625 PMID:32934225
Akizu N, et al. (2013) AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 154(3):505-17 PMID:23911318