Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy (Q26741506)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27460292%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

review article

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title

Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27460292%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

main subject

spinal muscular atrophy

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1 reference

Joseph K Burns

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27460292%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

publication date

23 June 2016

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19 March 2020

published in

Neuromuscular Disorders

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19 March 2020

volume

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19 March 2020

issue

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19 March 2020

page(s)

551-559

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Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females.

19 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Glucose metabolism and pancreatic defects in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

A novel nuclear structure containing the survival of motor neurons protein

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Cost of illness for neuromuscular diseases in the United States

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Spinal muscular atrophy: the natural course of disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

The prenatal diagnosis of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

The neurobiology of childhood spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Spinal Muscular Atrophy Therapeutics: Where do we Stand?

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Chaos in classification of the spinal muscular atrophies of childhood

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Chaos in the classification of SMA: a possible resolution.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

The natural history of type I (severe) spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

The cost-effectiveness of prenatal screening for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

An SMN-dependent U12 splicing event essential for motor circuit function

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Vascular perfusion abnormalities in infants with spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Defects in neuromuscular junction remodelling in the Smn(2B/-) mouse model of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Ramblings in the history of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

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%2FJ.NMD.2016.06.459

7 January 2021

A mouse model for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Correlation between severity and SMN protein level in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

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%2FJ.NMD.2016.06.459

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%2FJ.NMD.2016.06.459

7 January 2021

Spinal muscular atrophy--recent therapeutic advances for an old challenge.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Newborn screening for spinal muscular atrophy: Anticipating an imminent need

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

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%2FJ.NMD.2016.06.459

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%2FJ.NMD.2016.06.459

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%2FJ.NMD.2016.06.459

7 January 2021

Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3' splice site pairing

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Identification of a cis-acting element for the regulation of SMN exon 7 splicing

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

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%2FJ.NMD.2016.06.459

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%2FJ.NMD.2016.06.459

7 January 2021

hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

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%2FJ.NMD.2016.06.459

7 January 2021

The survival motor neuron protein in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Embryonic motor axon development in the severe SMA mouse

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

A novel function for the survival motoneuron protein as a translational regulator

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Astrocytes influence the severity of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

ACOG committee opinion No. 432: spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Carrier screening for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Spinal muscular atrophy: from gene discovery to clinical trials

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Regulation of SMN protein stability

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Molecular functions of the SMN complex

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Spinal muscular atrophy: clinical classification and disease heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Intrathecal Injections in Children With Spinal Muscular Atrophy: Nusinersen Clinical Trial Experience

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Spinal muscular atrophy: new thoughts on the pathogenesis and classification schema

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Rapid diagnosis of spinal muscular atrophy using high-resolution melting analysis

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Observational study of spinal muscular atrophy type I and implications for clinical trials.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Prospective cohort study of spinal muscular atrophy types 2 and 3.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

The spinal muscular atrophy disease protein SMN is linked to the Golgi network

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

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%2FJ.NMD.2016.06.459

7 January 2021

Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

At the "junction" of spinal muscular atrophy pathogenesis: the role of neuromuscular junction dysfunction in SMA disease progression.

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

1 reference

https://api.crossref.org/works/10.1016%2FJ.NMD.2016.06.459

7 January 2021

10.1016/J.NMD.2016.06.459

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27460292%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27460292%20AND%20SRC:MED&resulttype=core&format=json