Associated Papers
Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review.
Tian Y et al.
Frontiers in Neuroscience, 2023
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
Guenther UP et al.
Journal of Molecular Medicine (berlin, Germany), 2009
Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.
Guenther UP et al.
Human Genetics, 2004
Select a paper to view details