Electrophysiological Biomarkers in Spinal Muscular Atrophy: Preclinical Proof of Concept. (Q37556531)

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7 March 2020

title

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

1 reference

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7 March 2020

main subject

biomarker

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spinal muscular atrophy

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1 reference

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12

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7 March 2020

author name string

W David Arnold

1

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7 March 2020

Paul N Porensky

2

1 reference

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7 March 2020

Vicki L McGovern

3

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7 March 2020

Chitra C Iyer

4

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7 March 2020

Sandra Duque

5

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7 March 2020

Xiaobai Li

6

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7 March 2020

Kathrin Meyer

7

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7 March 2020

Leah Schmelzer

8

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7 March 2020

Brian K Kaspar

9

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7 March 2020

Stephen J Kolb

10

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7 March 2020

John T Kissel

11

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7 March 2020

publication date

1 January 2014

1 reference

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Annals of clinical and translational neurology

7 March 2020

published in

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volume

1

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7 March 2020

issue

1

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7 March 2020

page(s)

34-44

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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

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

23 August 2017

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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

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Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy

23 August 2017

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

23 August 2017

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23 August 2017

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

23 August 2017

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

23 August 2017

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

23 August 2017

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

23 August 2017

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Regulation of SMN protein stability

23 August 2017

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

23 August 2017

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

23 August 2017

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Chaperoning ribonucleoprotein biogenesis in health and disease

23 August 2017

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

23 August 2017

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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

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

23 August 2017

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

23 August 2017

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

23 August 2017

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

23 August 2017

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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

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

23 August 2017

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23 August 2017

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

23 August 2017

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

6 September 2017

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28 September 2017

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28 September 2017

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25 June 2018

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Electromyography and muscle biopsy in infantile spinal muscular atrophy

25 June 2018

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25 June 2018

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

25 June 2018

1 reference

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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

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Contribution of reference electrode to the compound muscle action potential

1 September 2018

1 reference

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Electrophysiologic correlates of peripheral nervous system maturation in infancy and childhood

1 September 2018

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SMN oligomerization defect correlates with spinal muscular atrophy severity

3 December 2018

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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

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12 December 2020

Regression of polyneural innervation in the human psoas muscle

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12 December 2020

Pervasive synaptic branch removal in the mammalian neuromuscular system at birth

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12 December 2020

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

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12 December 2020

Comparison of incremental with multipoint MUNE methods in transgenic ALS mice

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

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12 December 2020

Identifiers

DOI

10.1002/ACN3.23

1 reference

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

7 March 2020

1 reference

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