(Q33345749)

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Spinal muscular atrophy.

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Europe PubMed Central

PubMed publication ID

26 July 2017

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Europe PubMed Central

Spinal muscular atrophy. (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

spinal muscular atrophy

1 reference

based on heuristic

inferred from title

muscular atrophy

1 reference

based on heuristic

inferred from title

Mitchell R. Lunn

object named as

Mitchell R Lunn

1

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author name string

Ching H Wang

2

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Europe PubMed Central

PubMed publication ID

26 July 2017

language of work or name

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publication date

1 June 2008

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Europe PubMed Central

PubMed publication ID

26 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

371

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

9630

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

2120-2133

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Classification of spinal muscular atrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic risk assessment in carrier testing for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Electromyography and muscle biopsy in infantile spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

International collaborative study of the spinal muscular atrophies. Part 1. Analysis of clinical and laboratory data

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Spinal muscular atrophy: clinical classification and disease heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Spinal muscular atrophy in the neonate

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

The DNA sequence and comparative analysis of human chromosome 5

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

When is a deletion not a deletion? When it is converted

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure and organization of the human survival motor neurone (SMN) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

The survival motor neuron protein of Schizosacharomyces pombe. Conservation of survival motor neuron interaction domains in divergent organisms

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Refined characterization of the expression and stability of the SMN gene products.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Degradation of survival motor neuron (SMN) protein is mediated via the ubiquitin/proteasome pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Differential SMN2 expression associated with SMA severity

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

An intronic element contributes to splicing repression in spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

The survival motor neuron protein in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel nuclear structure containing the survival of motor neurons protein

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

The spinal muscular atrophy disease gene product, SMN: A link between snRNP biogenesis and the Cajal (coiled) body

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A comprehensive interaction map of the human survival of motor neuron (SMN) complex

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Essential role for the SMN complex in the specificity of snRNP assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

SMN tudor domain structure and its interaction with the Sm proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A common set of gene regulatory networks links metabolism and growth inhibition

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

An initial blueprint for myogenic differentiation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

SMN interacts with a novel family of hnRNP and spliceosomal proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Profilin II is alternatively spliced, resulting in profilin isoforms that are differentially expressed and have distinct biochemical properties

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Hypomutability at the polyadenine tract in SMN intron 3 shows the invariability of the a-SMN protein structure.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuromuscular defects in a Drosophila survival motor neuron gene mutant.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Animal models of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A mouse model for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Establishing a standardized therapeutic testing protocol for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Progressive and selective degeneration of motoneurons in a mouse model of SMA.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

The role of the SMN gene in proximal spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Allele-specific amplification of exon 7 in the survival motor neuron (SMN) genes for molecular diagnosis of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Correlation between severity and SMN protein level in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

SMN dosage analysis and risk assessment for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal diagnosis of spinal muscular atrophy: Indian scenario

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Six unaffected livebirths following preimplantation diagnosis for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A feasibility study for the newborn screening of spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Treatment of spinal muscular atrophy by sodium butyrate

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Alleviating neurodegeneration by an anticancer agent: an Hsp90 inhibitor (17-AAG).

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

What's up and down with histone deacetylation and transcription?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Histone deacetylase inhibitors

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A new antifungal antibiotic, trichostatin

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Riluzole attenuates spinal muscular atrophy disease progression in a mouse model.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Induction of full-length survival motor neuron by polyphenol botanical compounds

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

The SMN complex, an assemblyosome of ribonucleoproteins

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Modulation of SMN nuclear foci and cytoplasmic localization by its C-terminus

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Readthrough of dystrophin stop codon mutations induced by aminoglycosides

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Modification of MyD88 mRNA splicing and inhibition of IL-1beta signaling in cell culture and in mice with a 2'-O-methoxyethyl-modified oligonucleotide

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Correction of disease-associated exon skipping by synthetic exon-specific activators

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Pilot trial of albuterol in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Efficacy of thyrotropin-releasing hormone in the treatment of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Pilot trial of phenylbutyrate in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A placebo-controlled trial of gabapentin in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A Phase 1 Trial of Riluzole in Spinal Muscular Atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

The effect of hydroxyurea in spinal muscular atrophy cells and patients

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A study of thyrotropin-releasing hormone for the treatment of spinal muscular atrophy: a preliminary report

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Chemical genetics and orphan genetic diseases.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Gemins modulate the expression and activity of the SMN complex

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Restoration of SMN function: delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Directed differentiation of embryonic stem cells into motor neurons

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

An SMA project report: neural cell-based assays derived from human embryonic stem cells

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Human embryonic germ cell derivatives facilitate motor recovery of rats with diffuse motor neuron injury.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Axonal growth of embryonic stem cell-derived motoneurons in vitro and in motoneuron-injured adult rats

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Issues in SMA clinical trial design. The International Coordinating Committee (ICC) for SMA Subcommittee on SMA Clinical Trial Design

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Reliability of hand-held dynamometry in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Outcome measures for pediatric spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Reliability of 4 outcome measures in pediatric spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2960921-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0140-6736(08)60921-6

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

ResearchGate publication ID

0 references

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