Associated Papers
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Perego MGL et al.
Cellular and Molecular Life Sciences : Cmls, 2020
The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.
Lim SC et al.
Nucleic Acids Research, 2012
IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).
Guenther UP et al.
Human Molecular Genetics, 2009
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K et al.
Annals of Neurology, 2003
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