Pages that link to "Q28214767"
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The following pages link to Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1 (Q28214767):
Displaying 50 items.
- autosomal recessive distal spinal muscular atrophy 1 (Q5282845) (← links)
- Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) (Q24298002) (← links)
- Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3 (Q24300595) (← links)
- Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination (Q24307617) (← links)
- Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage (Q24309516) (← links)
- IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1) (Q24319069) (← links)
- Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery (Q24322719) (← links)
- Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation (Q24337706) (← links)
- DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) (Q24533845) (← links)
- Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease (Q24674193) (← links)
- Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease (Q26991754) (← links)
- Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model (Q27342271) (← links)
- Solution structure of the R3H domain from human Smubp-2 (Q27640355) (← links)
- The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1 (Q27672895) (← links)
- Saccharomyces cerevisiae Sen1 Helicase Domain Exhibits 5'- to 3'-Helicase Activity with a Preference for Translocation on DNA Rather than RNA (Q27939217) (← links)
- (Q28183198) (redirect page) (← links)
- Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy (Q28259704) (← links)
- Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1 (Q28275326) (← links)
- Consensus Statement for Standard of Care in Spinal Muscular Atrophy (Q29028573) (← links)
- RNA processing and its regulation: global insights into biological networks (Q29615182) (← links)
- miRNA malfunction causes spinal motor neuron disease (Q30495998) (← links)
- Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent. (Q30761984) (← links)
- Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy (Q33786829) (← links)
- A yeast model of FUS/TLS-dependent cytotoxicity (Q33889537) (← links)
- The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases (Q33903384) (← links)
- Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. (Q34053293) (← links)
- iPSC-Derived neural stem cells act via kinase inhibition to exert neuroprotective effects in spinal muscular atrophy with respiratory distress type 1 (Q34250426) (← links)
- Contrasting pathology of the stress granule proteins TIA-1 and G3BP in tauopathies (Q34281671) (← links)
- Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). (Q34284670) (← links)
- Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. (Q34295566) (← links)
- Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival (Q34311152) (← links)
- Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy (Q34311332) (← links)
- Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies (Q34399213) (← links)
- Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. (Q34478330) (← links)
- Genetic rodent models of amyotrophic lateral sclerosis (Q34497123) (← links)
- Unraveling the genetics of distal hereditary motor neuronopathies (Q34538342) (← links)
- Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1. (Q34565092) (← links)
- Spinal muscular atrophy with respiratory distress type 1 (SMARD1). (Q34748653) (← links)
- Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man. (Q34900946) (← links)
- Hereditary motor neuropathies and motor neuron diseases: which is which. (Q35113116) (← links)
- The Genetics of Spinal Muscular Atrophy: Progress and Challenges (Q35501975) (← links)
- Pathways to motor incoordination: the inherited ataxias (Q35841041) (← links)
- Recessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation (Q35904780) (← links)
- The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset (Q38636550) (← links)
- Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 (Q36057444) (← links)
- Autosomal-recessive Charcot-Marie-Tooth diseases (Q36126350) (← links)
- Emerging pathways for hereditary axonopathies (Q36245379) (← links)
- Genome-wide approaches to dissect the roles of RNA binding proteins in translational control: implications for neurological diseases (Q36291543) (← links)
- Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2. (Q36337699) (← links)
- Molecular biology of amyotrophic lateral sclerosis: insights from genetics (Q36573336) (← links)