The promise and perils of HDAC inhibitors in neurodegeneration
A Didonna, P Opal - Annals of clinical and translational …, 2015 - Wiley Online Library
Histone deacetylases (HDAC s) represent emerging therapeutic targets in the context of
neurodegeneration. Indeed, pharmacologic inhibition of HDAC s activity in the nervous …
neurodegeneration. Indeed, pharmacologic inhibition of HDAC s activity in the nervous …
Spinal muscular atrophy
ES Arnold, KH Fischbeck - Handbook of clinical neurology, 2018 - Elsevier
Autosomal-recessive proximal spinal muscular atrophy (Werdnig–Hoffmann, Kugelberg–
Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with …
Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with …
209th ENMC international workshop: outcome measures and clinical trial readiness in spinal muscular atrophy 7–9 November 2014, Heemskerk, The Netherlands
2. Background Spinal muscular atrophy (SMA) is one of the most common neuromuscular
diseases. While SMA is a monogenic disorder, there is a broad range of phenotypes from …
diseases. While SMA is a monogenic disorder, there is a broad range of phenotypes from …
Drug treatment for spinal muscular atrophy types II and III
RI Wadman, WL van der Pol… - Cochrane Database …, 2020 - cochranelibrary.com
Background Spinal muscular atrophy (SMA) is caused by a homozygous deletion of the
survival motor neuron 1 (SMN1) gene on chromosome 5, or a heterozygous deletion in …
survival motor neuron 1 (SMN1) gene on chromosome 5, or a heterozygous deletion in …
Overview of current drugs and molecules in development for spinal muscular atrophy therapy
Spinal muscular atrophy (SMA) is a neurodegenerative disease primarily characterized by a
loss of spinal motor neurons, leading to progressive paralysis and premature death in the …
loss of spinal motor neurons, leading to progressive paralysis and premature death in the …
The identification of novel biomarkers is required to improve adult SMA patient stratification, diagnosis and treatment
Spinal muscular atrophy (SMA) is currently classified into five different subtypes, from the
most severe (type 0) to the mildest (type 4) depending on age at onset, best motor function …
most severe (type 0) to the mildest (type 4) depending on age at onset, best motor function …
SMA valiant trial: a prospective, double‐blind, placebo‐controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy
JT Kissel, B Elsheikh, WM King, M Freimer… - Muscle & …, 2014 - Wiley Online Library
Introduction: An open‐label trial suggested that valproic acid (VPA) improved strength in
adults with spinal muscular atrophy (SMA). We report a 12‐month, double‐blind, cross‐over …
adults with spinal muscular atrophy (SMA). We report a 12‐month, double‐blind, cross‐over …
Drug treatment for spinal muscular atrophy type I
RI Wadman, WL van der Pol… - Cochrane Database …, 2019 - cochranelibrary.com
Background Spinal muscular atrophy (SMA) is caused by a homozygous deletion of the
survival motor neuron 1 (SMN1) gene on chromosome 5, or a heterozygous deletion in …
survival motor neuron 1 (SMN1) gene on chromosome 5, or a heterozygous deletion in …
[HTML][HTML] Spinal muscular atrophy: an update on therapeutic progress
Humans have two nearly identical copies of survival motor neuron gene: SMN1 and SMN2.
Deletion or mutation of SMN1 combined with the inability of SMN2 to compensate for the …
Deletion or mutation of SMN1 combined with the inability of SMN2 to compensate for the …
Advances and challenges in developing a therapy for spinal muscular atrophy
RS Anderton, FL Mastaglia - Expert review of neurotherapeutics, 2015 - Taylor & Francis
Spinal muscular atrophy (SMA) is a debilitating and incurable childhood onset disease
characterized by the degeneration of motor neurons in the spinal cord resulting in muscular …
characterized by the degeneration of motor neurons in the spinal cord resulting in muscular …