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

RA Powis, TH Gillingwater - Journal of anatomy, 2016 - Wiley Online Library
Spinal muscular atrophy (SMA) is a neuromuscular disease characterised primarily by loss
of lower motor neurons from the ventral grey horn of the spinal cord and proximal muscle …

Morphological characteristics of motor neurons do not determine their relative susceptibility to degeneration in a mouse model of severe spinal muscular atrophy

SR Thomson, JE Nahon, CA Mutsaers, D Thomson… - PloS one, 2012 - journals.plos.org
Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, resulting
primarily from the degeneration and loss of lower motor neurons. Studies using mouse …

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

G Hunter, A Aghamaleky Sarvestany… - Human molecular …, 2014 - academic.oup.com
Low levels of survival of motor neuron (SMN) protein lead to spinal muscular atrophy (SMA).
The major pathological hallmark of SMA is a loss of lower motor neurons from spinal cord …

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

RG Gogliotti, KA Quinlan, CB Barlow… - Journal of …, 2012 - Soc Neuroscience
The loss of motor neurons (MNs) is a hallmark of the neuromuscular disease spinal
muscular atrophy (SMA); however, it is unclear whether this phenotype autonomously …

Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models

Y Hua, YH Liu, K Sahashi, F Rigo… - Genes & …, 2015 - genesdev.cshlp.org
Survival of motor neuron (SMN) deficiency causes spinal muscular atrophy (SMA), but the
pathogenesis mechanisms remain elusive. Restoring SMN in motor neurons only partially …

Functional abnormalities of cerebellum and motor cortex in spinal muscular atrophy mice

A Tharaneetharan, M Cole, B Norman, NC Romero… - Neuroscience, 2021 - Elsevier
Spinal muscular atrophy (SMA) is a devastating genetic neuromuscular disease. Diffuse
neuropathology has been reported in SMA patients and mouse models, however, functional …

Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy

LI Schmitt, C David, R Steffen, S Hezel, A Roos… - Acta …, 2023 - Springer
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by a loss of
the survival of motor neuron 1 (SMN1) gene, resulting in a loss of spinal motor neurons …

Mechanisms involved in spinal cord central synapse loss in a mouse model of spinal muscular atrophy

O Tarabal, V Caraballo-Miralles… - … of Neuropathology & …, 2014 - academic.oup.com
Motoneuron (MN) cell death is the histopathologic hallmark of spinal muscular atrophy
(SMA), although MN loss seems to be a late event. Conversely, disruption of afferent …

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

X Paez-Colasante, B Seaberg, TL Martinez, L Kong… - PloS one, 2013 - journals.plos.org
In the inherited childhood neuromuscular disease spinal muscular atrophy (SMA), lower
motor neuron death and severe muscle weakness result from the reduction of the …

Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

LM Murray, S Lee, D Bäumer, SH Parson… - Human molecular …, 2010 - academic.oup.com
The childhood motor neuron disease spinal muscular atrophy (SMA) results from reduced
expression of the survival motor neuron (SMN) gene. Previous studies using in vitro model …