Search Results - "Schrader, Rachel"
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132 Caregivers Perspectives on Multidisciplinary Clinic Visits for Duchenne and Becker Muscular Dystrophy
Published in Journal of clinical and translational science (01-04-2023)“…OBJECTIVES/GOALS: This study surveyed parents and/or caregivers of children with Duchenne and Becker muscular dystrophy (DBMD) to obtain their perspectives on…”
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Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
Published in International journal of neonatal screening (15-04-2024)“…Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder diagnosed in childhood. Limited newborn screening in the US often delays diagnosis. With…”
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Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
Published in Annals of the Child Neurology Society (01-09-2024)Get full text
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Healthcare Providers’ Practice and Perception on Discussing Life Expectancy with Duchenne Patients and Caregivers: A Mixed Quantitative/Qualitative Survey (P10-8.008)
Published in Neurology (09-04-2024)“…Abstract only…”
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Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-06-2022)“…Duchenne muscular dystrophy (DMD) is a progressive, fatal neuromuscular disorder typically diagnosed between 4 and 5 years of age. DMD currently has five FDA…”
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Caregivers Perspectives on Multidisciplinary Clinic Visits for Duchenne and Becker Muscular Dystrophy (P5-8.015)
Published in Neurology (25-04-2023)“…Abstract only…”
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Disease Progression Stages and Burden in Patients with Duchenne Muscular Dystrophy Using Administrative Claims Supplemented by Electronic Medical Records
Published in Advances in therapy (01-06-2022)“…Introduction This study aims to identify stages of Duchenne muscular dystrophy (DMD) and assess the disease burden by progression stage using real-world…”
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Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic
Published in Neuropediatrics (01-04-2019)“…Next-generation sequencing is a powerful diagnostic tool, yet it has proven inadequate to establish a diagnosis in all cases of congenital hypotonia or…”
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Development and electronic health record validation of an algorithm for identifying patients with Duchenne muscular dystrophy in US administrative claims
Published in Journal of managed care & specialty pharmacy (01-09-2023)“…BACKGROUND: Muscular dystrophies (MDs) comprise a heterogenous group of genetically inherited conditions characterized by progressive muscle weakness and…”
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Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia
Published in Human mutation (01-03-2020)“…Hereditary spastic paraplegia (HSP) is a group of disorders with predominant symptoms of lower‐extremity weakness and spasticity. Despite the delineation of…”
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Moving Beyond the 2018 Minimum International Care Considerations for Osteoporosis Management in Duchenne Muscular Dystrophy (DMD): Meeting Report from the 3rd International Muscle-Bone Interactions Meeting 7th and 14th November 2022
Published in Journal of neuromuscular diseases (02-01-2024)Get more information
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