(Q37556531)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

Electrophysiological Biomarkers in Spinal Muscular Atrophy: Preclinical Proof of Concept (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

main subject

biomarker

0 references

spinal muscular atrophy

1 reference

1 reference

1 reference

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

author name string

W David Arnold

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Paul N Porensky

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Vicki L McGovern

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Chitra C Iyer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Sandra Duque

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Xiaobai Li

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Kathrin Meyer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Leah Schmelzer

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Brian K Kaspar

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Stephen J Kolb

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

John T Kissel

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

publication date

1 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

Annals of clinical and translational neurology

7 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

page(s)

34-44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons

7 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Spinal muscular atrophy: development and implementation of potential treatments

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Temporal requirement for high SMN expression in SMA mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Compound muscle action potential and motor function in children with spinal muscular atrophy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Dorsal caudal tail and sciatic motor nerve conduction studies in adult mice: technical aspects and normative data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Regulation of SMN protein stability

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Chaperoning ribonucleoprotein biogenesis in health and disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Identification and characterization of a spinal muscular atrophy-determining gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

The neurobiology of childhood spinal muscular atrophy.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Electromyography and muscle biopsy in infantile spinal muscular atrophy

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

The genetic component in child mortality

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

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 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Contribution of reference electrode to the compound muscle action potential.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

Electrophysiologic correlates of peripheral nervous system maturation in infancy and childhood

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3914317

SMN oligomerization defect correlates with spinal muscular atrophy severity

3 December 2018

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

Regression of polyneural innervation in the human psoas muscle

1 reference

12 December 2020

Pervasive synaptic branch removal in the mammalian neuromuscular system at birth

1 reference

12 December 2020

Motor unit number estimation predicts disease onset and survival in a transgenic mouse model of amyotrophic lateral sclerosis

1 reference

12 December 2020

Comparison of incremental with multipoint MUNE methods in transgenic ALS mice

1 reference

12 December 2020

Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy

1 reference

12 December 2020

Identifiers

DOI

10.1002/ACN3.23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

PubMed publication ID

24511555

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24511555%20AND%20SRC:MED&resulttype=core&format=json