Associated Papers
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Fernández-Eulate G et al.
Neurology. Genetics, 2023
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M et al.
European Journal of Neurology, 2021
Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.
Martinez-Carrera LA et al.
Frontiers in Neuroscience, 2015
Select a paper to view details