Disease: Spinal muscular atrophy with respiratory distress 1
- ABT1 modifies SMARD1 pathology via interactions with IGHMBP2 and stimulation of ATPase and helicase activity
- Acquired Bartter-like Syndrome Presenting with Polyuria and Reversible Hypokalemia Associated with Colistin Use in a Critically Ill Pediatric Patient
- Clinically relevant mouse models of Charcot-Marie-Tooth type 2S
- Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1
- CSF transplantation of a specific iPSC-derived neural stem cell subpopulation ameliorates the disease phenotype in a mouse model of spinal muscular atrophy with respiratory distress type 1
- Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1)
- Defining the optimal dose and therapeutic window in SMA with respiratory distress type I model mice, FVB/NJ-<em>Ighmpb2</em> <sup><em>nmd-2J</em></sup>
- Development of a novel severe mouse model of spinal muscular atrophy with respiratory distress type 1: FVB-nmd
- Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1
- Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulism
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- Models for IGHMBP2-associated diseases: an overview and a roadmap for the future
- Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired
- Muscle fiber-type selective propensity to pathology in the nmd mouse model of SMARD1
- Persistent respiratory distress or something else?
- Point-of-care lung and diaphragm ultrasound in a patient with spinal muscular atrophy with respiratory distress type 1
- RNA helicase IGHMBP2 regulates THO complex to ensure cellular mRNA homeostasis
- Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
- Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked <em>LAS1L</em> Gene
- Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants
- Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights
- Spinal Muscular Atrophy with Respiratory Distress<br /> Type 1: A Novel Variant of IGHMBP2 Gene
- The contribution and therapeutic implications of IGHMBP2 mutations on IGHMBP2 biochemical activity and ABT1 association
- The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects
- Validation of the Pathogenic Effect of <em>IGHMBP2</em> Gene Mutations Based on Yeast <em>S. cerevisiae</em> Model
- Variant analysis and prenatal diagnosis for two Chinese pedigrees affected with Spinal muscular atrophy with respiratory distress type 1