Associated Papers
The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Diers A et al.
Acta Neuropathologica, 2005
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
Maystadt I et al.
Human Mutation, 2004
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K et al.
Annals of Neurology, 2003
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Grohmann K et al.
Nature Genetics, 2001
Select a paper to view details