spinal-muscular-atrophy

Documents about spinal-muscular-atrophy

• Telerehabilitation in Proximal Muscle Weakness#870199ClinicalTrials.gov
• A Registry Based Randomized-Controlled Trial of an Upper Limb Exergaming Intervention for Children and Adolescents With Spinal Muscular Atrophy#840556ClinicalTrials.gov
• Spinal muscular atrophy: Biology, pathogenesis, and therapeutic advances.#785698NCBI PubMed Central
• Adults With SMA Treated With Nusinersen#813489ClinicalTrials.gov
• An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy Who Previously Participated in ISIS 396443-CS1 (NCT01494701)#883993ClinicalTrials.gov
• Chinese Regional Spinal Muscular Atrophy Patient Registration Study#1010016ClinicalTrials.gov
• National Registry for Egyptian Pediatric Neuromuscular Diseases#864818ClinicalTrials.gov
• Development of patient-reported outcome for spinal and bulbar muscular atrophy#424120bioRxiv / medRxiv
• Mechanisms and Treatment of Exercise Intolerance and Persistent Fatigue in Spinal Muscular Atrophy#808065ClinicalTrials.gov
• A Study to Learn About the Long-Term Safety of Higher Doses of Nusinersen (BIIB058) Given as Injections to Participants With Spinal Muscular Atrophy (SMA) Who Took Part in an Earlier Nusinersen Trial (ONWARD)#855737ClinicalTrials.gov
• Safety and Efficacy Evaluation of GC101 Gene Therapy Via Intrathecal (IT) Injectionin the Treatment of Patients With Type 2 Spinal Muscular Atrophy (SMA) - Phase III#994354ClinicalTrials.gov
• Reciprocating Gait Orthoses for Paraplegia Patients#980082ClinicalTrials.gov
• A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France#231651HAL (France)
• Pathophysiology and Management of Fatigue in Neuromuscular Diseases#330438IRIS
• Optimum Insufflation Capacity in NMD#860868ClinicalTrials.gov
• Multi-Omics Landscape of Paraspinal Muscles in Spinal Muscular Atrophy With Scoliosis.#351578NCBI PubMed Central
• A Study to Learn About the Safety of BIIB115 Injections and How BIIB115 is Processed in the Bodies of Healthy Adult Male Volunteers and of Pediatric Participants With Spinal Muscular Atrophy Who Previously Took Onasemnogene Abeparvovec#916888ClinicalTrials.gov
• Exploring the phenotypic and genotypic spectrum of spinal muscular atrophy in Bangladeshi children.#334939NCBI PubMed Central
• Humanistic and Economic Burden of Spinal Muscular Atrophy in the Gulf Region.#662899NCBI PubMed Central
• Addressing the Global Disparities in Access to Treatment in Spinal Muscular Atrophy.#671033NCBI PubMed Central
• Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1#325999HAL (France)
• Identification of a Biomarker Associated With Cis-duplication of the SMN1 Gene#892790ClinicalTrials.gov
• EAP of Apitegromab for Patients With Spinal Muscular Atrophy#1008222ClinicalTrials.gov
• Observational Study to Observe Variations of Gait Parameters in Patients With Neuromuscular Diseases#840057ClinicalTrials.gov
• Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA#1031805ClinicalTrials.gov
• The alternative androgen receptor isoform a mitigates toxicity of polyglutamine-elongated mutant androgen receptor in spinal and bulbar muscular atrophy#254370IRIS
• Impact of Home-Based Respiratory Physiotherapy in Nusinersen-Treated Patients with Spinal Muscular Atrophy.#507NCBI PubMed Central
• Behavioral barriers in the management of spinal muscular atrophy: The role of procrastination, regret, and burnout.#255129NCBI PubMed Central
• Long Term Trajectories of SMA Patients Receiving or Not Disease-modifying Treatments#892389ClinicalTrials.gov
• COMMAND Early Feasibility Study: Implantable BCI to Control a Digital Device for People With Paralysis#899910ClinicalTrials.gov
• Self-Efficacy Enhancement Using a Multicomponent Support Group for Caregivers of Children With DMD/SMA#837754ClinicalTrials.gov
• ยารับประทาน Risdiplam ทางเลือกของการรักษาโรคกล้ามเนื้ออ่อนแรง Risdiplam in Spinal Muscular Atrophy (SMA): Therapeutic Alternatives#328120SWU eJournals System
• Adeno-Associated Virus Gene Therapy for Spinal Muscular Atrophy Induces Hepatotoxicity via Cytokine and Macrophage Activation.#342608NCBI PubMed Central
• Early loss of axons limits the therapeutic window in a mouse model of spinal muscular atrophy#374141Europe PMC
• Nanotube-Assisted Motor Neuron and Neuromuscular Junction Stabilization in Spinal Muscular Atrophy: A Hypothesis for Adjunctive Therapy.#232288NCBI PubMed Central
• A <i>C. elegans</i> Model for Spinal Muscular Atrophy Reveals Neuron Specific Developmental and Degenerative Defects#291353Europe PMC
• Using wearable sensors during the timed up and go and 6-minute walk test in Spinal Bulbar Muscular Atrophy.#182270NCBI PubMed Central
• SWITCH II Early Feasibility Study: Implantable BCI to Control a Digital Device for People With Paralysis#1009519ClinicalTrials.gov
• The Effect of a Muscle-mimicking, Fabric-type Shoulder Orthosis on Functional Movements of the Upper Limb in Patients With Neuromuscular Disorder#812631ClinicalTrials.gov
• Modifying disease registries to address the evolving field in rare diseases: the iSMAc/ITASMAc experience in spinal muscular atrophy.#335044NCBI PubMed Central
• Understanding the experiences of adults with spinal muscular atrophy & their transition to an adult program: A mixed methods study.#433707NCBI PubMed Central
• Gene therapy benefits in a small cohort of symptomatic 5q spinal muscular atrophy patients and real world pediatric outcomes.#923681NCBI PubMed Central
• Responsiveness and Validation Study of MFM-20 in SMA Patients Treated With Nusinersen#967568ClinicalTrials.gov
• Efficacy and Usability of the EXPLORER Exoskeleton in Children With Neurodevelopmental Disorders in Natural Environments#886549ClinicalTrials.gov
• Spiritual well-being, caregiver burden, depression, and quality of life in parents of children with spinal muscular atrophy: A cross-sectional study.#305431NCBI PubMed Central
• Glymphatic Dysfunction in Children With Type 2 and 3 Spinal Muscular Atrophy#651793Europe PMC
• Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe Disease#886602ClinicalTrials.gov
• Impairments of Neuro-muscular Communication in Motor-Neuron Disease: A Bio-Marker for Early and Personalised Diagnosis#842923ClinicalTrials.gov
• International SBMA Project (KDA)#880977ClinicalTrials.gov
• AveXis Managed Access Program Cohort for Access to AVXS-101#915775ClinicalTrials.gov