Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model
M Bowerman, A Beauvais, CL Anderson… - Human molecular …, 2010 - academic.oup.com
Spinal muscular atrophy (SMA) is an inherited disease resulting in the highest mortality of
children under the age of two. SMA is caused by mutations or deletions in the survival motor …
children under the age of two. SMA is caused by mutations or deletions in the survival motor …
Glucose metabolism and pancreatic defects in spinal muscular atrophy
…, GS Wang, C Reeks, A Beauvais… - Annals of …, 2012 - Wiley Online Library
Objective: Spinal muscular atrophy (SMA) is the number 1 genetic killer of young children. It
is caused by mutation or deletion of the survival motor neuron 1 (SMN1) gene. Although …
is caused by mutation or deletion of the survival motor neuron 1 (SMN1) gene. Although …
SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis
M Bowerman, CL Anderson, A Beauvais… - Molecular and Cellular …, 2009 - Elsevier
Spinal muscular atrophy (SMA) is the most common human genetic disease resulting in infant
mortality. SMA is caused by mutations or deletions in the ubiquitously expressed survival …
mortality. SMA is caused by mutations or deletions in the ubiquitously expressed survival …
A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology
M Bowerman, LM Murray, A Beauvais, B Pinheiro… - Neuromuscular …, 2012 - Elsevier
Spinal muscular atrophy (SMA) is caused by mutations/deletions within the SMN1 gene and
characterized by loss of lower motor neurons and skeletal muscle atrophy. SMA is clinically …
characterized by loss of lower motor neurons and skeletal muscle atrophy. SMA is clinically …
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy
…, G Baranello, C Mastella, A Beauvais… - Annals of clinical …, 2019 - Wiley Online Library
Objective Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder leading to
paralysis and subsequent death in young children. Initially considered a motor neuron …
paralysis and subsequent death in young children. Initially considered a motor neuron …
[HTML][HTML] Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn 2b/- mouse model of …
LM Murray, A Beauvais, S Gibeault… - Acta neuropathologica …, 2015 - Springer
Introduction The term motor neuron disease encompasses a spectrum of disorders in which
motor neurons are the lost. Importantly, while some motor neurons are lost early in disease …
motor neurons are the lost. Importantly, while some motor neurons are lost early in disease …
[HTML][HTML] Mouse Survival Motor Neuron Alleles That Mimic SMN2 Splicing and Are Inducible Rescue Embryonic Lethality Early in Development but Not Late
SM Hammond, RG Gogliotti, V Rao, A Beauvais… - PloS one, 2010 - journals.plos.org
Spinal muscular atrophy (SMA) is caused by low survival motor neuron (SMN) levels and
patients represent a clinical spectrum due primarily to varying copies of the survival motor …
patients represent a clinical spectrum due primarily to varying copies of the survival motor …
Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology
M Bowerman, JP Michalski, A Beauvais… - Human molecular …, 2014 - academic.oup.com
Spinal muscular atrophy (SMA) is characterized by motor neuron loss, caused by mutations
or deletions in the ubiquitously expressed survival motor neuron 1 (SMN1) gene. We …
or deletions in the ubiquitously expressed survival motor neuron 1 (SMN1) gene. We …
Defects in neuromuscular junction remodelling in the Smn2B/− mouse model of spinal muscular atrophy
LM Murray, A Beauvais, K Bhanot, R Kothary - Neurobiology of disease, 2013 - Elsevier
Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease caused by
mutations and deletions within the survival motor neuron 1 (SMN1) gene. Although other …
mutations and deletions within the survival motor neuron 1 (SMN1) gene. Although other …
[HTML][HTML] The proteolipid protein promoter drives expression outside of the oligodendrocyte lineage during embryonic and early postnatal development
JP Michalski, C Anderson, A Beauvais… - PloS one, 2011 - journals.plos.org
The proteolipid protein (Plp) gene promoter is responsible for driving expression of one of
the major components of myelin – PLP and its splice variant DM-20. Both products are …
the major components of myelin – PLP and its splice variant DM-20. Both products are …