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. - sprookjes - yvandenbroek - TriplyDB

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.

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.

http://www.wikidata.org/entity/Q34353103

about

Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study Spinal muscular atrophy SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy Modeling spinal muscular atrophy in Drosophila Drug treatment for spinal muscular atrophy types II and III Drug treatment for spinal muscular atrophy type I Drug treatment for spinal muscular atrophy types II and III Drug treatment for spinal muscular atrophy type I Drug treatment for spinal muscular atrophy type I Drug treatment for spinal muscular atrophy types II and III SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy A positive modifier of spinal muscular atrophy in the SMN2 gene The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition A microarray configuration to quantify expression levels and relative abundance of splice variants.SMN1 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 Diseases Neuromuscular Junctions as Key Contributors and Therapeutic Targets in Spinal Muscular Atrophy Spinal muscular atrophy: from gene discovery to clinical trials Histone deacetylase inhibitors as potential treatment for spinal muscular atrophy Applicability of histone deacetylase inhibition for the treatment of spinal muscular atrophy Stem cell transplantation for motor neuron disease: current approaches and future perspectives Modeling neurological disorders by human induced pluripotent stem cells Skeletal muscle DNA damage precedes spinal motor neuron DNA damage in a mouse model of Spinal Muscular Atrophy (SMA)Characterization of the RNA recognition mode of hnRNP G extends its role in SMN2 splicing regulation Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy.Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation Regulation of SMN protein stability Phase II open label study of valproic acid in spinal muscular atrophy Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study

P2860

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P2860

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.

http://www.wikidata.org/entity/Q34353103

description

2001 nî lūn-bûn

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2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年论文

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name

Quantitative analyses of SMN1 ...... ty of spinal muscular atrophy.

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Quantitative analyses of SMN1 ...... ty of spinal muscular atrophy.

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Quantitative analyses of SMN1 ...... ty of spinal muscular atrophy.

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type

label

Quantitative analyses of SMN1 ...... ty of spinal muscular atrophy.

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Quantitative analyses of SMN1 ...... ty of spinal muscular atrophy.

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Quantitative analyses of SMN1 ...... ty of spinal muscular atrophy.

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prefLabel

Quantitative analyses of SMN1 ...... ty of spinal muscular atrophy.

@ast

Quantitative analyses of SMN1 ...... ty of spinal muscular atrophy.

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Quantitative analyses of SMN1 ...... ty of spinal muscular atrophy.

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P1433

American Journal of Human Genetics

P1476

Quantitative analyses of SMN1 ...... ty of spinal muscular atrophy.

@en

P2093

Brunhilde Wirth

http://www.w3.org/2001/XMLSchema#string

Markus Feldkötter

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Radu Wirth

http://www.w3.org/2001/XMLSchema#string

Thomas F Wienker

http://www.w3.org/2001/XMLSchema#string

Verena Schwarzer

http://www.w3.org/2001/XMLSchema#string

P2860

A simple salting out procedure for extracting DNA from human nucleated cells

An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)

Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy

Identification and characterization of a spinal muscular atrophy-determining gene

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

Treatment of spinal muscular atrophy by sodium butyrate.

Best practice guidelines for molecular analysis in spinal muscular atrophy.

P304

358-368

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scholarly article

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10.1086/338627

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P433

2

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70

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2001-12-21T00:00:00Z

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11567826

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11791208

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spinal muscular atrophy

P932

419987

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