Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
about
Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort studyEvaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acidModeling spinal muscular atrophy in DrosophilaThe zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy.Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomicsIntragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophyIndoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanismA positive modifier of spinal muscular atrophy in the SMN2 geneSurvival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibitionA SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA miceSMN1 dosage analysis in spinal muscular atrophy from India.Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesMolecular Mechanisms of Neurodegeneration in Spinal Muscular AtrophySpinal muscular atrophy: from gene discovery to clinical trialsSpinal muscular atrophy: development and implementation of potential treatmentsApplicability of histone deacetylase inhibition for the treatment of spinal muscular atrophySplicing therapy for neuromuscular diseaseAbnormal fatty acid metabolism in childhood spinal muscular atrophyPhenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophyProlactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway.Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimensThe SMN structure reveals its crucial role in snRNP assemblyRepeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic responseSAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophyEarly heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN deliveryCarrier screening for spinal muscular atrophyChondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophyA role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophyEvaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical studyA single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophySpinal muscular atrophy variant with congenital fractures.Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysisTranslational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivoA novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophyEffects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophyThe DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models.Pathological impact of SMN2 mis-splicing in adult SMA miceRequirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation.Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.
P2860
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P2860
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Identification of proximal spi ...... SMNT and SMNC gene copy number
@ast
Identification of proximal spi ...... SMNT and SMNC gene copy number
@en
type
label
Identification of proximal spi ...... SMNT and SMNC gene copy number
@ast
Identification of proximal spi ...... SMNT and SMNC gene copy number
@en
prefLabel
Identification of proximal spi ...... SMNT and SMNC gene copy number
@ast
Identification of proximal spi ...... SMNT and SMNC gene copy number
@en
P2093
P2860
P356
P1476
Identification of proximal spi ...... SMNT and SMNC gene copy number
@en
P2093
McAndrew PE
Mendell JR
Parsons DW
Rochette C
P2860
P304
P356
10.1086/515465
P407
P50
P577
1997-06-01T00:00:00Z