(Q41440571)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28768735%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

review article

0 references

title

Therapeutic strategies for spinal muscular atrophy: SMN and beyond (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28768735%20AND%20SRC:MED&resulttype=core&format=json

spinal muscular atrophies

26 March 2020

main subject

1 reference

3 August 2019

1 reference

20 December 2019

spinal muscular atrophy

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28768735%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Rafael J Yáñez-Muñoz

3

1 reference

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26 March 2020

Ke Ning

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28768735%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Matthew J. Wood

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28768735%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Thomas H. Gillingwater

6

1 reference

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26 March 2020

Kevin Talbot

7

1 reference

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26 March 2020

author name string

Catherina G Becker

2

1 reference

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26 March 2020

UK SMA Research Consortium

8

1 reference

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26 March 2020

language of work or name

1 reference

1 August 2017

5 references

25 April 2019

3 August 2019

28 November 2019

20 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28768735%20AND%20SRC:MED&resulttype=core&format=json

Disease Models & Mechanisms

26 March 2020

published in

5 references

25 April 2019

3 August 2019

28 November 2019

20 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28768735%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

volume

10

1 reference

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26 March 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28768735%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

page(s)

943-954

1 reference

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Creative Commons Attribution

26 March 2020

copyright license

4 references

25 April 2019

3 August 2019

28 November 2019

20 December 2019

0 references

on focus list of Wikimedia project

ScienceSource

0 references

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1 October 2017

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Activin Receptor Type IIB Inhibition Improves Muscle Phenotype and Function in a Mouse Model of Spinal Muscular Atrophy

1 October 2017

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Olesoxime (TRO19622): A Novel Mitochondrial-Targeted Neuroprotective Compound

1 October 2017

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Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy

1 October 2017

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Survival Motor Neuron (SMN) protein is required for normal mouse liver development.

1 October 2017

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Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy.

1 October 2017

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Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy

1 October 2017

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RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

1 October 2017

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The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

1 October 2017

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1 October 2017

Troponin and exercise

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Human induced pluripotent stem cells: A disruptive innovation.

1 October 2017

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

1 October 2017

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A role for the survival of motor neuron protein in mRNP assembly and transport

1 October 2017

1 reference

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Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.

1 October 2017

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UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration

1 October 2017

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1 October 2017

Focus on PTEN Regulation

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Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response

1 October 2017

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

1 October 2017

1 reference

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Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons.

1 October 2017

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Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy.

1 October 2017

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Spinal Muscular Atrophy Therapeutics: Where do we Stand?

1 October 2017

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A large animal model of spinal muscular atrophy and correction of phenotype

1 October 2017

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PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy

1 October 2017

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Cell-Mediated Immunity to AAV Vectors, Evolving Concepts and Potential Solutions

1 October 2017

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Genetic background drives transcriptional variation in human induced pluripotent stem cells

1 October 2017

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Fast skeletal muscle troponin activator tirasemtiv increases muscle function and performance in the B6SJL-SOD1G93A ALS mouse model

1 October 2017

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SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease.

1 October 2017

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Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

1 October 2017

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A retinoic acid-enhanced, multicellular human blood-brain barrier model derived from stem cell sources.

1 October 2017

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

1 October 2017

1 reference

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Bilateral crosstalk of rho- and extracellular-signal-regulated-kinase (ERK) pathways is confined to an unidirectional mode in spinal muscular atrophy (SMA).

1 October 2017

1 reference

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Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy

1 October 2017

1 reference

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Splicing therapy for neuromuscular disease

1 October 2017

1 reference

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Blood-brain barrier structure and function and the challenges for CNS drug delivery

1 October 2017

1 reference

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Temporal requirement for SMN in motoneuron development.

1 October 2017

1 reference

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Fast skeletal muscle troponin activation increases force of mouse fast skeletal muscle and ameliorates weakness due to nebulin-deficiency

1 October 2017

1 reference

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Spinal muscular atrophy: going beyond the motor neuron

1 October 2017

1 reference

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

1 October 2017

1 reference

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Glucose metabolism and pancreatic defects in spinal muscular atrophy

1 October 2017

1 reference

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A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects.

1 October 2017

1 reference

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Survival motor neuron affects plastin 3 protein levels leading to motor defects

1 October 2017

1 reference

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Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Activation of fast skeletal muscle troponin as a potential therapeutic approach for treating neuromuscular diseases

1 October 2017

1 reference

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Induced pluripotent stem cells as a disease modeling and drug screening platform

1 October 2017

1 reference

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A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology.

1 October 2017

1 reference

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Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy

1 October 2017

1 reference

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Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late

1 October 2017

1 reference

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Cardiac defects contribute to the pathology of spinal muscular atrophy models

1 October 2017

1 reference

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Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

High-efficiency transfection of cultured primary motor neurons to study protein localization, trafficking, and function

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Inhibition of myostatin with emphasis on follistatin as a therapy for muscle disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Induced pluripotent stem cells from a spinal muscular atrophy patient

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Modeling spinal muscular atrophy in Drosophila

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Caenorhabditis elegans in the study of SMN-interacting proteins: a role for SMI-1, an orthologue of human Gemin2 and the identification of novel components of the SMN complex

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

The blood-brain barrier: bottleneck in brain drug development

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

PTEN regulation of neural development and CNS stem cells

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Regulation of myostatin activity and muscle growth

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Spliceosomal UsnRNP biogenesis, structure and function

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

A role for nuclear PTEN in neuronal differentiation.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

A mouse model for spinal muscular atrophy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

PTEN interactions with focal adhesion kinase and suppression of the extracellular matrix-dependent phosphatidylinositol 3-kinase/Akt cell survival pathway

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Rho family GTP-binding proteins in growth cone signalling

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

A novel nuclear structure containing the survival of motor neurons protein

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Identification and characterization of a spinal muscular atrophy-determining gene

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Motoneuron development influences dorsal root ganglia survival and Schwann cell development in a vertebrate model of spinal muscular atrophy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila.

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Pip6-PMO, A New Generation of Peptide-oligonucleotide Conjugates With Improved Cardiac Exon Skipping Activity for DMD Treatment.

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Generation and Characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene.

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

The neurobiology of childhood spinal muscular atrophy.

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Discovery of a Novel Class of Survival Motor Neuron 2 Splicing Modifiers for the Treatment of Spinal Muscular Atrophy.

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Dawn of a new therapeutic era for spinal muscular atrophy.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Survival of motor neurone protein is required for normal postnatal development of the spleen.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Specific Correction of Alternative Survival Motor Neuron 2 Splicing by Small Molecules: Discovery of a Potential Novel Medicine To Treat Spinal Muscular Atrophy.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

The small-molecule fast skeletal troponin activator, CK-2127107, improves exercise tolerance in a rat model of heart failure

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

SMN deficiency attenuates migration of U87MG astroglioma cells through the activation of RhoA.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Efficient transduction of non-human primate motor neurons after intramuscular delivery of recombinant AAV serotype 6.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Childhood spinal muscular atrophy induces alterations in contractile and regulatory protein isoform expressions.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Neuromuscular defects in a Drosophila survival motor neuron gene mutant.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Survival motor neuron protein in the nucleolus of mammalian neurons.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Differential expression of MMAC/PTEN in glioblastoma multiforme: relationship to localization and prognosis.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5560066

Label-Free Quantitative Proteomic Profiling Identifies Disruption of Ubiquitin Homeostasis As a Key Driver of Schwann Cell Defects in Spinal Muscular Atrophy

2 December 2018

1 reference

12 December 2020

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

1 reference

12 December 2020

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

1 reference

12 December 2020

Transgenic inactivation of murine myostatin does not decrease the severity of disease in a model of Spinal Muscular Atrophy

1 reference

12 December 2020

Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity

1 reference

12 December 2020

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy

1 reference

12 December 2020

Classification of spinal muscular atrophies

1 reference

12 December 2020

Polyarginine enters cells more efficiently than other polycationic homopolymers

1 reference

12 December 2020

Selective loss of alpha motor neurons with sparing of gamma motor neurons and spinal cord cholinergic neurons in a mouse model of spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1242/DMM.030148

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28768735%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28768735%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

PubMed publication ID

28768735

1 reference