|2.||Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
|3.||Huntington Disease (Huntington's Disease)
|4.||Neurodegenerative Diseases (Neurodegenerative Disease)
|5.||Muscular Dystrophies (Muscular Dystrophy)
|1.||Wirth, Brunhilde: 18 articles (01/2015 - 03/2006)|
|2.||Swoboda, Kathryn J: 14 articles (12/2015 - 05/2005)|
|3.||Corti, Stefania: 9 articles (09/2015 - 01/2006)|
|4.||Sumner, Charlotte J: 9 articles (04/2015 - 11/2003)|
|5.||Jablonka, Sibylle: 9 articles (05/2014 - 01/2002)|
|6.||Crawford, Thomas O: 8 articles (04/2015 - 08/2007)|
|7.||Riessland, Markus: 8 articles (01/2015 - 07/2006)|
|8.||Prior, Thomas W: 8 articles (02/2014 - 05/2005)|
|9.||Bassell, Gary J: 8 articles (06/2012 - 10/2004)|
|10.||Rossoll, Wilfried: 8 articles (06/2012 - 01/2002)|
|1.||Histone Deacetylase InhibitorsIBA
06/07/2013 - "Increasing SMN levels using the histone deacetylase inhibitor SAHA ameliorates defects in skeletal muscle microvasculature in a mouse model of severe spinal muscular atrophy."
09/01/2013 - "HDAC inhibitors (HDACIs) are a group of small molecules that promote gene transcription by chromatin remodeling and have been extensively studied as potential drugs for treating of spinal muscular atrophy. "
09/01/2013 - "Histone deacetylase inhibitors as potential treatment for spinal muscular atrophy."
03/01/2009 - "Currently, the most promising therapeutic strategy for spinal muscular atrophy is induction of SMN2 gene expression by histone deacetylase inhibitors. "
10/01/2008 - "Early spinal muscular atrophy disease detection and treatment initiation combined with aggressive ancillary care may be integral to the optimization of histone deacetylase inhibitor treatment in human patients."
|2.||Thyrotropin-Releasing Hormone (Protirelin)FDA Link
07/01/1994 - "Efficacy of thyrotropin-releasing hormone in the treatment of spinal muscular atrophy."
09/01/2000 - "To determine whether thyrotropin-releasing hormone (TRH) can increase muscle strength in children with spinal muscular atrophy types 2 and 3. A randomized, double-blinded, controlled, 5-wk drug trial of six subjects and three controls. "
09/01/2000 - "A study of thyrotropin-releasing hormone for the treatment of spinal muscular atrophy: a preliminary report."
07/01/1994 - "Thyrotropin-releasing hormone has a neurotrophic effect on the spinal anterior motor neurons of spinal muscular atrophy patients and thus may be warranted for the management of spinal muscular atrophy."
07/01/1994 - "Children with spinal muscular atrophy were treated by the administration of thyrotropin-releasing hormone. "
|3.||Valproic Acid (Valproate, Semisodium)FDA LinkGeneric
02/01/2014 - "An open-label trial suggested that valproic acid (VPA) improved strength in adults with spinal muscular atrophy (SMA). "
02/01/2014 - "SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy."
11/01/2012 - "Valproic acid (VPA) dosing strategies used in recent clinical trials in patients with spinal muscular atrophy (SMA) have utilized a paradigm of monitoring trough levels to estimate drug exposure with subsequent dose titration. "
01/01/2009 - "Preliminary in vitro and in vivo studies with valproic acid (VPA) in cell lines and patients with spinal muscular atrophy (SMA) demonstrate increased expression of SMN, supporting the possibility of therapeutic benefit. "
01/01/2009 - "Phase II open label study of valproic acid in spinal muscular atrophy."
|4.||gabapentin (Neurontin)FDA LinkGeneric
10/15/2001 - "To evaluate the efficacy of gabapentin in increasing muscle strength of patients with spinal muscular atrophy (SMA). "
08/01/2003 - "Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study."
10/15/2001 - "A placebo-controlled trial of gabapentin in spinal muscular atrophy."
08/01/2003 - "We carried out a multicenter, randomized, controlled trial of gabapentin versus no treatment in 120 patients with type II or III spinal muscular atrophy for 12 months. "
05/01/2013 - "Antisense oligonucleotides for the treatment of spinal muscular atrophy."
01/01/2012 - "Antisense oligonucleotides shed new light on the pathogenesis and treatment of spinal muscular atrophy."
03/02/2011 - "Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy."
08/01/2010 - "Antisense oligonucleotides and spinal muscular atrophy: skipping along."
06/29/2015 - "There has been a recent revival of interest in the use of antisense oligonucleotides to treat several neurodegenerative disorders using different approaches to prevent disease onset or halt disease progression and the first clinical trials for spinal muscular atrophy and amyotrophic lateral sclerosis showing promising results. "
|6.||Hydroxyurea (Hydrea)FDA LinkGeneric
12/14/2010 - "The purpose of this study was to evaluate the safety and efficacy of hydroxyurea (HU) in spinal muscular atrophy (SMA) in a randomized, double-blind, placebo-controlled trial. "
12/14/2010 - "Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy."
05/15/2008 - "The effect of hydroxyurea in spinal muscular atrophy cells and patients."
08/01/2005 - "Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells."
11/01/2011 - "This study was a retrospective chart review of 16 patients with spinal muscular atrophy type 1 under 3 yrs of age consecutively referred for respiratory decompensations resulting in continuous NIV dependence and oxyhemoglobin desaturation. "
11/01/2011 - "A protocol including high span bilevel positive airway pressure along with MAC to expel airway secretions and normalize oxyhemoglobin saturation can be used by trained caregivers to avoid episodes of acute respiratory failure and hospitalization for children with spinal muscular atrophy type 1 under 3 yrs of age."
03/01/2007 - "Our aim was to assess the efficacy of noninvasive ventilation (NIV) for the treatment of thoracoabdominal asynchrony during sleep in children with spinal muscular atrophy (SMA) types 1 and 2. Nine subjects underwent assessment for sleep apnea/hypopnea index (AHI), mean oxyhemoglobin saturation (SpO2), oxygen desaturation index, transcutaneous carbon dioxide tension (tcpCO2), and mean phase angle during sleep as a measure of thoracoabdominal coordination. "
|8.||Insulin (Novolin)FDA Link
08/01/2014 - "In this study, we evaluated the efficacy of intravenous administration of a recombinant adeno-associated virus (AAV1) vector encoding human insulin-like growth factor-1 (IGF-1) in a severe mouse model of spinal muscular atrophy. "
08/26/2015 - "Recent evidence of IGF-1 axis alteration in spinal muscular atrophy (SMA), a very severe neurodegenerative disease affecting specifically the motor neurons, have triggered a renewed interest in insulin-like growth factor-1 (IGF-1) pathway activation as a potential therapeutic approach for motor neuron diseases. "
|9.||RNA Precursors (Precursor, mRNA)IBA
03/01/2011 - "Prevention of skipping of exon 7 during pre-mRNA splicing of Survival Motor Neuron 2 (SMN2) holds the promise for cure of spinal muscular atrophy (SMA), a leading genetic cause of infant mortality. "
07/01/2010 - "Repair of pre-mRNA splicing: prospects for a therapy for spinal muscular atrophy."
11/25/1998 - "A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing."
02/01/2014 - "In particular, the use of AONs for exon skipping, by targeting pre-mRNA, is proving to be a highly promising therapy for some genetic disorders like Duchenne muscular dystrophy and spinal muscular atrophy. "
08/11/2015 - "In this report, we show that U2AF(65) stimulates alternative exon skipping in spinal muscular atrophy (SMA)-related survival motor neuron (SMN) pre-mRNA. "
04/01/2013 - "Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality."
01/01/2015 - "Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse."
04/15/2014 - "The actin-binding and bundling protein, plastin 3 (PLS3), was identified as a protective modifier of spinal muscular atrophy (SMA) in some patient populations and as a disease modifier in animal models of SMA. "
06/01/2011 - "Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings."
10/01/2010 - "To investigate the potential association of plastin 3 (PLS3) expression levels in the blood with disease severity in spinal muscular atrophy (SMA). "
04/01/2013 - "The purpose of this study was to examine the correlations between change scores on the Manual Muscle Test for muscle strength and the Gross Motor Function Measure for motor function in individuals with spinal muscular atrophy type 2 and type 3. The specific aims were to reveal any differences in correlations between younger (children) and older (adolescents and adults) individuals and also between walkers and nonwalkers with spinal muscular atrophy. "
08/01/2003 - "Pre-natal screening has dramatically reduced the incidence of spina bifida in the UK and subsequently swivel walkers have been used in a wider range of pathology, including spinal muscular atrophy, multiple sclerosis, muscular dystrophy and other neurological conditions that lead to lower limb dysfunction. "
08/01/2009 - "Oral administration of this thyrotropin-releasing hormone analogue should be noted as a promising therapy for spinal muscular atrophy."
08/01/2009 - "Oral administration of the thyrotropin-releasing hormone (TRH) analogue, taltireline hydrate, in spinal muscular atrophy."
08/01/2009 - "There is no definitive treatment for spinal muscular atrophy, but recent reports have indicated the efficacy of intravenous injection, but not oral administration, of thyrotropin-releasing hormone (TRH). "
|4.||Mechanical Ventilators (Ventilator)
05/01/2007 - "To report long-term survival of spinal muscular atrophy type 1 (SMA 1) and consequences on speech and ventilator dependence as a function of mode of ventilator use. "
06/01/1994 - "Six ventilator-assisted individuals (VAIs) with spinal muscular atrophy (SMA) are described. "
04/01/1973 - "[Nursing of patients with myelogenic progressive muscular atrophy being dependent on a respirator for a prolonged period]."
07/01/2002 - "Our objectives were to describe survival, hospitalization, speech, and outcomes related to respirator needs for spinal muscular atrophy type 1 (SMA1) patients, using noninvasive or tracheostomy ventilation. "
11/01/2011 - "The aim of this study was to report the outcomes of an oximetry protocol using up to continuous full ventilator-setting noninvasive ventilation (NIV) and mechanically assisted coughing (MAC) to avoid episodes of acute respiratory failure and hospitalizations for children with spinal muscular atrophy type 1 under 3 yrs of age. "
01/01/2004 - "Various animal models have been developed to study the pathogenesis of spinal muscular atrophy, as well as to test novel therapeutics. "
04/01/2015 - "Spinal Muscular Atrophy Therapeutics: Where do we Stand?"
12/01/2014 - "[The role of RNA splicing in the pathogenesis of spinal muscular atrophy and development of its therapeutics]."
02/01/2014 - "SMN-targeted therapeutics for spinal muscular atrophy: are we SMArt enough yet?"
02/01/2012 - "Of these, spinal muscular atrophy (SMA) is perhaps the best poised to capitalize on advances in targeted therapeutics development over the next few years. "