Publications related to Spinal muscular atrophies

AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn(2B/-) spinal muscular atrophy mice

Structural, functional and molecular cardiac defects have been reported in spinal muscular atrophy (SMA) patients and mouse models. Previous quantitative proteomics analyses demonstrated widespread molecular defects in the severe Taiwanese SMA mouse model. ...

Oxford University Press2023

Lack of effect on ambulation of dalfampridine-ER (4-AP) treatment in adult SMA patients

Brian Donal McCabe

SMA is a genetically determined motor system disorder that results in muscle weakness, selective motor neuron death, muscle atrophy, and impaired functional mobility. In SMA model systems, long-term treatment with 4-aminopyridine (4-AP) has been shown to i ...

PERGAMON-ELSEVIER SCIENCE LTD2020

Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development

Bernard Schneider

Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are the two most common motoneuron disorders, which share typical pathological hallmarks while remaining genetically distinct. Indeed, SMA is caused by deletions or mutations in the surv ...

ELSEVIER SCIENCE BV2018

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models

Brian Donal McCabe

SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death. Although SMN is required in every cell for proper RNA metabolism, the re ...

Academic Press Inc Elsevier Science2017

Efficient transduction of non-human primate motor neurons after intramuscular delivery of recombinant AAV serotype 6

Patrick Aebischer, Bernard Schneider, Christopher Towne

Retrograde transport of viral vectors in the rodent spinal cord provides a powerful means to administer a therapeutic transgene from the innervated musculature. With the aim of scaling up this approach to non-human primates, we have injected recombinant ad ...

2010

Adeno-Associated Virus-Mediated Gene Delivery for the Treatment of Amyotrophic Lateral Sclerosis and other Motor Neuron Disorders

Christopher Towne

The delivery of molecules and genes to the central nervous system (CNS) poses a major challenge for the treatment of neurodegenerative diseases. CNS disorders require long-term intervention and the presence of the blood-brain barrier (BBB) restricts the pe ...

EPFL2010