(Q47322638)

14 January 2018

title

Synaptic defects in type I spinal muscular atrophy in human development (English)

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14 January 2018

main subject

spinal muscular atrophy

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Rebeca Martínez-Hernández

1

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14 January 2018

Sara Bernal

2

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14 January 2018

Eva Also-Rallo

3

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14 January 2018

Laura Alías

4

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14 January 2018

María Jesús Barceló

5

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14 January 2018

Marta Hereu

6

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14 January 2018

Josep E Esquerda

7

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14 January 2018

Eduardo F Tizzano

8

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14 January 2018

publication date

1 January 2013

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14 January 2018

published in

Journal of Pathology

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14 January 2018

volume

229

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14 January 2018

issue

1

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14 January 2018

page(s)

49-61

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14 January 2018

Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling

cites work

1 reference

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

21 January 2018

1 reference

The neurobiology of childhood spinal muscular atrophy.

21 January 2018

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Chromatolytic neurons in Werdnig-Hoffmann disease contain phosphorylated neurofilaments.

21 January 2018

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Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

Copies of the survival motor neuron gene in spinal muscular atrophy: the more, the better

21 January 2018

1 reference

The survival motor neuron protein in spinal muscular atrophy

21 January 2018

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Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?

21 January 2018

1 reference

Spinal muscular atrophy: a delayed development hypothesis

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Disturbances of neuromuscular interaction may contribute to muscle weakness in spinal muscular atrophy

21 January 2018

1 reference

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy

21 January 2018

1 reference

Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors.

21 January 2018

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Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning

21 January 2018

1 reference

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.

21 January 2018

1 reference

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

21 January 2018

1 reference

Induction, assembly, maturation and maintenance of a postsynaptic apparatus

21 January 2018

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Development of the neuromuscular junction

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.

21 January 2018

1 reference

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

21 January 2018

1 reference

Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons

21 January 2018

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Expression of foetal type acetylcholine receptor is restricted to type 1 muscle fibres in human neuromuscular disorders

21 January 2018

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Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients.

21 January 2018

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

21 January 2018

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

21 January 2018

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Embryonic motor axon development in the severe SMA mouse

21 January 2018

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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

21 January 2018

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Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

1 reference

Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN

21 January 2018

1 reference

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

21 January 2018

1 reference

Dependence of postnatal motoneurones on their targets: review and hypothesis

21 January 2018

1 reference

Ciliary neurotrophic factor prevents the degeneration of motor neurons after axotomy.

21 January 2018

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Downregulation of Bcl-2 proteins in type I spinal muscular atrophy motor neurons during fetal development.

21 January 2018

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Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord.

21 January 2018

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Defective Neuromuscular Junction Organization and Postnatal Myogenesis in Mice With Severe Spinal Muscular Atrophy

21 January 2018

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Reduction of multiaxonal innervation at the neuromuscular junction of the rat during development

21 January 2018

1 reference

5 June 2022

https://opencitations.net/index/coci/api/v1/citations/10.1113/JPHYSIOL.1977.SP011953

Identifiers

DOI

10.1002/PATH.4080

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14 January 2018

PubMed ID

22847626

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14 January 2018