Associated Papers
Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model.
Rzepnikowska W et al.
International Journal of Molecular Sciences, 2022
Charcot-Marie-Tooth disease type 2S: identical novel missense mutation of IGHMBP2 gene in two unrelated families.
Chandrasekharan SV et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.
Luan X et al.
Brain & Development, 2016
Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.
Stalpers XL et al.
Neuromuscular Disorders : Nmd, 2013
The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.
Lim SC et al.
Nucleic Acids Research, 2012
Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.
Pierson TM et al.
Neuromuscular Disorders : Nmd, 2011
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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