Associated Papers
Exome sequencing identifies novel and known mutations in families with intellectual disability.
Rasheed M et al.
Bmc Medical Genomics, 2021
Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives.
Keskin I et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
Huppke P et al.
Human Mutation, 2012
Select a paper to view details