Spinal muscular atrophy. (Q33345749)

26 July 2017

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title

Spinal muscular atrophy. (English)

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26 July 2017

spinal muscular atrophy

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1 reference

Mitchell R Lunn

1

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author name string

Ching H Wang

series ordinal

2

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PubMed ID

18572081

26 July 2017

language of work or name

English

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publication date

1 June 2008

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26 July 2017

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26 July 2017

371

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26 July 2017

2120-2133

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26 July 2017

9630

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Classification of spinal muscular atrophies

26 July 2017

1 reference

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

7 January 2021

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

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

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

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

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

Spinal muscular atrophy in the neonate

1 reference

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

7 January 2021

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Differential SMN2 expression associated with SMA severity

1 reference

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

7 January 2021

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

An initial blueprint for myogenic differentiation

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

7 January 2021

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Animal models of spinal muscular atrophy

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

7 January 2021

A mouse model for spinal muscular atrophy

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

7 January 2021

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Histone deacetylase inhibitors

1 reference

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

7 January 2021

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

A new antifungal antibiotic, trichostatin

1 reference

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

7 January 2021

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

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

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

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

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

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

The SMN complex, an assemblyosome of ribonucleoproteins

1 reference

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

7 January 2021

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Chemical genetics and orphan genetic diseases.

1 reference

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

7 January 2021

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

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

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

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

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

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

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

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

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

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

Outcome measures for pediatric spinal muscular atrophy.

1 reference

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

7 January 2021

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

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

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

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

10.1016/S0140-6736(08)60921-6

Identifiers

DOI

1 reference

26 July 2017

1 reference

PubMed ID

18572081