Amy Bartlett
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Assessment of safety and efficacy of risdiplam treatment in adults with spinal muscular atrophy Open
Introduction Risdiplam has been shown to be safe, well tolerated, and improves or stabilizes motor function in individuals with SMA, but limited published data exists for adults. The aim of this study was to assess the efficacy, safety, an…
Neuromuscular transmission deficits in patients with <span>CMT</span> and <span>ClC</span>‐1 inhibition in <span>CMT</span> animal models Open
Objective Charcot–Marie Tooth (CMT) is a hereditary neuropathy characterized by muscle weakness and fatigue with no approved therapies. Preclinical studies implicate neuromuscular junction (NMJ) transmission deficits in muscle dysfunction …
View article: Safety and Efficacy of Topiramate in Individuals With Cryptogenic Sensory Peripheral Neuropathy With Metabolic Syndrome
Safety and Efficacy of Topiramate in Individuals With Cryptogenic Sensory Peripheral Neuropathy With Metabolic Syndrome Open
Importance Cryptogenic sensory peripheral neuropathy (CSPN) is highly prevalent and often disabling due to neuropathic pain. Metabolic syndrome and its components increase neuropathy risk. Diet and exercise have shown promise but are limit…
Differential impact on motor unit characteristics across severities of adult spinal muscular atrophy Open
Objective To test the hypotheses that decomposition electromyography (dEMG) motor unit action potential (MUAP) amplitude and firing rate are altered in SMA; dEMG parameters are associated with strength and function; dEMG parameters are cor…
View article: Operation Moonshot: rapid translation of a SARS-CoV-2 targeted peptide immunoaffinity liquid chromatography-tandem mass spectrometry test from research into routine clinical use
Operation Moonshot: rapid translation of a SARS-CoV-2 targeted peptide immunoaffinity liquid chromatography-tandem mass spectrometry test from research into routine clinical use Open
Objectives During 2020, the UK’s Department of Health and Social Care (DHSC) established the Moonshot programme to fund various diagnostic approaches for the detection of SARS-CoV-2, the pathogen behind the COVID-19 pandemic. Mass spectrom…
Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen Open
Objective Spinal muscular atrophy (SMA) is a motor neuron disease caused by low levels of survival motor neuron (SMN) protein. Prior work in models and patients has demonstrated electrophysiological and morphological defects at the neuromu…
View article: Rapid and Sensitive Detection of SARS-CoV-2 Infection Using Quantitative Peptide Enrichment LC-MS Analysis
Rapid and Sensitive Detection of SARS-CoV-2 Infection Using Quantitative Peptide Enrichment LC-MS Analysis Open
Reliable, robust, large-scale molecular testing for SARS-CoV-2 is essential for monitoring the ongoing Covid-19 pandemic. We have developed a scalable analytical approach to detect viral proteins based on peptide immunoaffinity enrichment …
Safety, Tolerability, and Effect of Nusinersen Treatment in Ambulatory Adults With 5q-SMA Open
Objective: To determine the safety and tolerability of nusinersen treatment in ambulatory adults with spinal muscular atrophy (SMA) and investigate the treatment effect on muscle strength, physical function, and motor unit physiology. Meth…
Safety, Tolerability, and Effect of Nusinersen in Non-ambulatory Adults With Spinal Muscular Atrophy Open
Objective: Investigation of the safety, tolerability, and treatment effect of nusinersen treatment in non-ambulatory adults with spinal muscular atrophy (SMA). Methods: Non-ambulatory individuals, aged 18 years or older with genetically co…
View article: Seven-Year Experience From the National Institute of Neurological Disorders and Stroke–Supported Network for Excellence in Neuroscience Clinical Trials
Seven-Year Experience From the National Institute of Neurological Disorders and Stroke–Supported Network for Excellence in Neuroscience Clinical Trials Open
NeuroNEXT initiated 8 studies, successfully enrolled participants at or ahead of schedule, collected high-quality data, published primary results in high-impact journals, and provided mentorship, expert statistical, and trial management su…
View article: Open‐label trial of ranolazine for the treatment of paramyotonia congenita
Open‐label trial of ranolazine for the treatment of paramyotonia congenita Open
Introduction Paramyotonia congenita (PMC) is a nondystrophic myotonic disorder that is believed to be caused by a defect in Na v 1.4 sodium channel inactivation. Ranolazine, which acts by enhancing slow inactivation of sodium channels, has…
Motor Function Test Reliability During the NeuroNEXT Spinal Muscular Atrophy Infant Biomarker Study Open
Reliability of scores across evaluators was demonstrated for all three study MFTs and scores were reproducible on repeated administration. Evaluator experience had no effect on reliability.
Natural history of infantile‐onset spinal muscular atrophy Open
Objective Infantile‐onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death preceding age 2. Clinical trials in this population require an understanding of disease progression …
Open-label trial of ranolazine for the treatment of myotonia congenita Open
This study provides Class IV evidence that ranolazine improves myotonia in myotonia congenita.
View article: A randomized controlled trial of methotrexate for patients with generalized myasthenia gravis
A randomized controlled trial of methotrexate for patients with generalized myasthenia gravis Open
This study provides Class I evidence that for patients with generalized MG MTX does not significantly reduce the prednisone AUDTC over 12 months of therapy.
Baseline results of the Neuro<span>NEXT</span> spinal muscular atrophy infant biomarker study Open
Objective This study prospectively assessed putative promising biomarkers for use in assessing infants with spinal muscular atrophy ( SMA ). Methods This prospective, multi‐center natural history study targeted the enrollment of SMA infant…