Associated Papers
RNA helicase IGHMBP2 regulates THO complex to ensure cellular mRNA homeostasis.
Prusty AB et al.
Cell Reports, 2024
In Vitro Modeling as a Tool for Testing Therapeutics for Spinal Muscular Atrophy and IGHMBP2-Related Disorders.
Sierra-Delgado JA et al.
Biology, 2023
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
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired.
Taiana M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2022
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
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
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T et al.
Bmc Medical Genetics, 2015
26392352 (PubMed )
Supplement: 12881_2015_224_MOESM1_ESM.xlsx › ST1
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
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
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
Guenther UP et al.
Human Mutation, 2007
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K et al.
Annals of Neurology, 2003
Select a paper to view details