Pages that link to "Q33840923"
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The following pages link to An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). (Q33840923):
Displaying 50 items.
- Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study (Q21091059) (← links)
- Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy (Q21144988) (← links)
- Spinal muscular atrophy (Q21202863) (← links)
- Modeling spinal muscular atrophy in Drosophila (Q21562542) (← links)
- Survival motor neuron protein regulates stem cell division, proliferation, and differentiation in Drosophila (Q21563387) (← links)
- Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins. (Q24536283) (← links)
- Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition (Q24655533) (← links)
- SMN1 dosage analysis in spinal muscular atrophy from India (Q24816138) (← links)
- Human induced pluripotent stem cells for monogenic disease modelling and therapy (Q26750393) (← links)
- Amyotrophic Lateral Sclerosis: New Perpectives and Update (Q26781051) (← links)
- Differentiating lower motor neuron syndromes (Q28070092) (← links)
- Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy (Q28142479) (← links)
- Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1 (Q28206060) (← links)
- The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells (Q28242279) (← links)
- Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts (Q28261807) (← links)
- Multiple therapeutic effects of valproic acid in spinal muscular atrophy model mice (Q28288250) (← links)
- Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice (Q28289944) (← links)
- Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo (Q30486481) (← links)
- The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models (Q30546337) (← links)
- Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR (Q33629502) (← links)
- Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population (Q33685609) (← links)
- Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late (Q33797677) (← links)
- Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa (Q33957888) (← links)
- Assays for the identification and prioritization of drug candidates for spinal muscular atrophy (Q34082155) (← links)
- Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death (Q34099265) (← links)
- Therapy development in spinal muscular atrophy (Q34122981) (← links)
- Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy (Q34311332) (← links)
- SMN-inducing compounds for the treatment of spinal muscular atrophy (Q34312156) (← links)
- Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population (Q34329535) (← links)
- Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy (Q34353103) (← links)
- Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies (Q34399213) (← links)
- Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy (Q34540158) (← links)
- ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy (Q34555103) (← links)
- Antisense therapy in neurology (Q34608717) (← links)
- Repair of pre-mRNA splicing: prospects for a therapy for spinal muscular atrophy. (Q34762623) (← links)
- An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival (Q35012989) (← links)
- Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy (Q35106119) (← links)
- Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2) (Q35210565) (← links)
- A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites (Q35303941) (← links)
- The Genetics of Spinal Muscular Atrophy: Progress and Challenges (Q35501975) (← links)
- ECG in neonate mice with spinal muscular atrophy allows assessment of drug efficacy. (Q35530447) (← links)
- Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice (Q35618849) (← links)
- Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy. (Q35623453) (← links)
- Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA. (Q35683524) (← links)
- Genetically engineered pig models for human diseases (Q35700104) (← links)
- Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study. (Q35758534) (← links)
- Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project. (Q35824759) (← links)
- Spinal muscular atrophy genetic testing experience at an academic medical center. (Q35869354) (← links)
- Reconstitution of the human U snRNP assembly machinery reveals stepwise Sm protein organization (Q35991646) (← links)
- Therapy development for spinal muscular atrophy in SMN independent targets. (Q36014761) (← links)