• 'Reading the palm' - A pilot study of grip and finger flexion strength as an outcome measure in 5q spinal muscular atrophy
• 2024 update: European consensus statement on gene therapy for spinal muscular atrophy
• A case series evaluating patient perceptions after switching from nusinersen to risdiplam for spinal muscular atrophy
• A Post-Marketing Surveillance Study of Nusinersen for Spinal Muscular Atrophy in Routine Medical Practice in China: Interim Results
• Acetaminophen treatment in children and adults with spinal muscular atrophy: a lower tolerance and higher risk of hepatotoxicity
• Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy
• An updated systematic review on spinal muscular atrophy patients treated with nusinersen, onasemnogene abeparvovec (at least 24 months), risdiplam (at least 12 months) or combination therapies
• Analysis of the efficacy and adverse effects of nusinersen in the treatment of children with spinal muscular atrophy in China
• Assessment of the upper limb function, strength, and mobility in treatment-naive children with spinal muscular atrophy Types 2 and 3
• Brazilian version of the CHOP INTEND scale: cross-cultural adaptation and validation
• Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data
• Cardiac function evaluation in children with spinal muscular atrophy: A case-control study
• Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA
• Changes in electrophysiological findings of spinal muscular atrophy type I after the administration of nusinersen and onasemnogene abeparvovec: two case reports
• Changes in pNFH Levels in Cerebrospinal Fluid and Motor Evolution after the Loading Dose with Nusinersen in Different Types of Spinal Muscular Atrophy
• Clinical efficacy of nusinersen sodium in the treatment of children with spinal muscular atrophy
• Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life
• Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study
• Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio
• Correlations between clinical motor scores and CMAP in patients with type 2 spinal muscular amyotrophy treated with nusinersen
• Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study
• Digital measures of respiratory and upper limb function in spinal muscular atrophy: design, feasibility, reliability, and preliminary validity of a smartphone sensor-based assessment suite
• Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3
• Disrupted individual-level morphological brain network in spinal muscular atrophy types 2 and 3
• Effect of nusinersen treatment on quality of life and motor function in adult patients with spinal muscular atrophy
• Effect on maximal mouth opening in children with spinal muscular atrophy treated with onasemnogene abeparvovec
• Efficacy and safety of onasemnogene abeparvovec for the treatment of patients with spinal muscular atrophy type 1: A systematic review with meta-analysis
• Efficacy and safety of salbutamol in treatment of children with later-onset spinal muscular atrophy
• Evaluation of risdiplam efficacy in 5q spinal muscular atrophy: A systematic comparison of electrophysiologic with clinical outcome measures
• Evaluation of the neurofilament light chain as a biomarker in children with spinal muscular atrophy treated with nusinersen
• Experience of the treatment of spinal muscular atrophy type 3 Kugelberg-Welander with Nusinersen
• Exploring functional strength changes during nusinersen treatment in symptomatic children with SMA types 2 and 3
• Feasibility and utility of in-home body weight support harness system use in young children treated for spinal muscular atrophy: A single-arm prospective cohort study
• Gene replacement therapy for spinal muscular atrophy: safety and preliminary efficacy in a Brazilian cohort
• Global Risdiplam Compassionate Use Program for Patients with Type 1 or 2 Spinal Muscular Atrophy
• Hip Displacement in Spinal Muscular Atrophy: The Influences of Genetic Severity, Functional Level, and Disease-modifying Treatments
• Hirayama disease in a teenager with severe hand weakness
• Hirayama Disease: The Role of the Neuroradiologist to Confirm the Diagnosis and Correlation with Electromyography
• Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study
• Impact of Spinal Surgery on Intrathecal Nusinersen Injections in Pediatric Spinal Muscular Atrophy
• Impaired diaphragmatic motility in treatment-naive adult patients with spinal muscular atrophy improved during nusinersen treatment
• Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening
• Laminoplasty with tented duraplasty for Hirayama disease
• Long term quality of life follow-up and functional impairment study in patients with Hirayama disease
• Long-Term Comparative Efficacy and Safety of Risdiplam and Nusinersen in Children with Type 1 Spinal Muscular Atrophy
• Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience
• Low bone mineral density and reduced bone-specific alkaline phosphatase in 5q spinal muscular atrophy type 2 and type 3: A 2-year prospective study of bone health
• Malnutrition in Spinal Muscular Atrophy Type I: Case Report of a Novel Nutritional Intervention With Improved Growth and Function While Receiving Parallel Gene Splicing Therapies
• Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III
• Methadone for the management of complex pain and opioid-induced hyperalgesia in a child with Spinal Muscular Atrophy Type 2
• Monitoring spinal muscular atrophy with three-dimensional optoacoustic imaging
• Monoclonal antibodies to Respiratory Syncytial Virus (RSV) in patients with Spinal Muscular Atrophy Type 1
• Monomelic amyotrophy
• Motor unit number estimation via MScanFit MUNE in spinal muscular atrophy
• Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study
• Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
• Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3
• Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen
• Neurofilament light chain and profilin-1 dynamics in 30 spinal muscular atrophy type 3 patients treated with nusinersen
• Neurophysiological Characteristics in Type II and Type III 5q Spinal Muscular Atrophy Patients: Impact of Nusinersen Treatment
• Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China
• Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea
• Nusinersen in adults with type 3 spinal muscular atrophy: long-term outcomes on motor and respiratory function
• Nusinersen in the treatment of 4 children with presymptomatic spinal muscular atrophy
• Nusinersen induces detectable changes in compound motor action potential response in spinal muscular atrophy type 1 patients with severe impairment of motor function
• Nusinersen Initiation After Onset of Weakness Does Not Prevent Progression of Hip Instability
• Nutritional rickets masquerading as spinal muscular atrophy type III
• Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial
• Oral disease-modifying therapy for adult patients with spinal muscular atrophy type 2
• Patient and Caregiver Outcomes After Onasemnogene Abeparvovec Treatment: Findings from the Cure SMA 2021 Membership Survey
• Polyminimyoclonus in Hirayama Disease
• Polysomnography findings and respiratory muscle function in infants with early onset spinal muscular atrophy after gene replacement as monotherapy: A prospective study
• Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophy
• Pregnancy experience in women with spinal muscular atrophy: a case series
• Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?
• Pseudo-obstructive sleep disordered breathing - definition and progression in Spinal Muscular Atrophy
• Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy
• Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
• RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy
• Risdiplam improves subjective swallowing quality in non-ambulatory adult patients with 5q-spinal muscular atrophy despite advanced motor impairment
• Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain
• Risdiplam Real World Data - Looking Beyond Motor Neurons and Motor Function Measures
• Risdiplam therapy in adults with 5q-SMA: observational study on motor function and treatment satisfaction
• Safety and Efficacy of Apitegromab in Patients With Spinal Muscular Atrophy Types 2 and 3: The Phase 2 TOPAZ Study
• Sequential treatment with nusinersen, Zolgensma^® and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report
• Sleep architecture and Nusinersen therapy in children with Spinal Muscular Atrophy type 1
• Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy
• Smartphone measures motor and respiratory function in spinal muscular atrophy
• Spinal adhesive arachnoiditis in an adult patient with spinal muscular atrophy type 3 treated with intrathecal therapy
• Spinal muscular atrophy in Ghanaian children confirmed by molecular genetic testing: a case series
• Spinal muscular atrophy: Should we prescribe approved drugs to cohorts of patients in which they are unproven?
• Study of monomelic amyotrophy of the lower limbs in the territory of the Western Balkans: Case series
• Successful treatment of respiratory failure in Hirayama disease
• Systematic Literature Review of the Natural History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures
• The Impact of Nusinersen and Risdiplam on Motor Function for Spinal Muscular Atrophy Type 2 and 3: A Meta-Analysis
• Treatment of SMA type 1 infants using a single-dose AAV9-mediated gene therapy via intrathecal injection of GC101: An open-label, single-arm study
• Treatment of Symptomatic Spinal Muscular Atrophy with Nusinersen: A Prospective Longitudinal Study on Scoliosis Progression
• Troponin T in spinal and bulbar muscular atrophy (SBMA)
• Unilateral interlaminar fenestration on the convex side provides a reliable access for intrathecal administration of nusinersen in spinal muscular atrophy: a retrospective study
• Vaccination proposal for patients on onasemnogene abeparvovec therapy