spinal-muscular-atrophy

Documents about spinal-muscular-atrophy

• Behavioral barriers in the management of spinal muscular atrophy: The role of procrastination, regret, and burnout#251484PLOS
• A Study to Assess the Clinical Validity of Konectom™ in Adults Living With Neuromuscular Disorders#806057ClinicalTrials.gov
• Measuring Levels of SMN in Blood Samples of SMA Patients#910083ClinicalTrials.gov
• Progress and challenges in intrathecal gene therapy for neurological disorders#227266Europe PMC
• Twelve-Month Outcomes of Intrathecal Vesemnogene Lantuparvovec for Spinal Muscular Atrophy in Children Younger than 24 Months in Low- and Middle- Income Countries#319779bioRxiv / medRxiv
• Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey.#444522AVESIS
• Intervención desde terapia ocupacional con exoesqueleto pediátrico orientado a mejorar la autonomía en las actividades de la vida diaria (AVD): estudio de caso clínico#367174Gestión del Repositorio Documental de la Universidad de Salamanca
• Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA#284485IRIS
• Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders#804447ClinicalTrials.gov
• Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease#846330ClinicalTrials.gov
• A Study to Investigate the Effect of Hepatic Impairment on the Pharmacokinetics and Safety and Tolerability of a Single Oral Dose of Risdiplam Compared to Matched Healthy Participants With Normal Hepatic Function#835207ClinicalTrials.gov
• Safety and Efficacy of Vesemnogene Lantuparvovec, an AAV-Based Gene Therapy in Young Children Under 24 Months with Spinal Muscular Atrophy in Low- and-Middle- Income Countries. Second Interim Report (August 2025).#314159bioRxiv / medRxiv
• Early Check: Expanded Screening in Newborns#892967ClinicalTrials.gov