Metabolic dysfunction in spinal muscular atrophy

MO Deguise, L Chehade, R Kothary - International Journal of Molecular …, 2021 - mdpi.com
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder leading to
paralysis, muscle atrophy, and death. Significant advances in antisense oligonucleotide …

Time is motor neuron: therapeutic window and its correlation with pathogenetic mechanisms in spinal muscular atrophy

A Govoni, D Gagliardi, GP Comi, S Corti - Molecular neurobiology, 2018 - Springer
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder
characterized by the degeneration of lower motor neurons (MNs) in the spinal cord and …

The relationship between body composition, fatty acid metabolism and diet in spinal muscular atrophy

KS Watson, I Boukhloufi, M Bowerman, SH Parson - Brain Sciences, 2021 - mdpi.com
Spinal muscular atrophy (SMA) is an autosomal recessive condition that results in
pathological deficiency of the survival motor neuron (SMN) protein. SMA most frequently …

[HTML][HTML] Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease

UR Monani - Neuron, 2005 - cell.com
Spinal muscular atrophy (SMA) is a neurodegenerative disease in humans and the most
common genetic cause of infant mortality. The disease results in motor neuron loss and …

Spinal muscular atrophy: more than a disease of motor neurons?

LA Nash, JK Burns, J Warman Chardon… - Current molecular …, 2016 - ingentaconnect.com
Spinal muscular atrophy (SMA) is the most common genetically inherited neurodegenerative
disease resulting in infant mortality. SMA is caused by genetic deletion or mutation in the …

Spinal muscular atrophy—recent therapeutic advances for an old challenge

I Faravelli, M Nizzardo, GP Comi, S Corti - Nature Reviews Neurology, 2015 - nature.com
In the past decade, improved understanding of spinal muscular atrophy (SMA)
aetiopathogenesis has brought us to a historical turning point: we are at the verge of …

Spinal muscular atrophy: a timely review

SJ Kolb, JT Kissel - Archives of neurology, 2011 - jamanetwork.com
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by loss of
motor neurons in the anterior horn of the spinal cord and resultant weakness. The most …

Spinal muscular atrophy: from animal model to clinical trial

MD Edmar Zanoteli, UC Reed… - Functional …, 2010 - search.proquest.com
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by
degeneration and loss of lower motor neurons in the spinal cord and brainstem. Clinically …

[HTML][HTML] The genetics of spinal muscular atrophy: progress and challenges

MA Farrar, MC Kiernan - Neurotherapeutics, 2015 - Elsevier
Spinal muscular atrophies (SMAs) are a group of inherited disorders characterized by motor
neuron loss in the spinal cord and lower brainstem, muscle weakness, and atrophy. The …

[HTML][HTML] Spinal muscular atrophy: journeying from bench to bedside

T Awano, JK Kim, UR Monani - Neurotherapeutics, 2014 - Elsevier
Spinal muscular atrophy (SMA) is a frequently fatal neuromuscular disorder and the most
common inherited cause of infant mortality. SMA results from reduced levels of the survival …