Disease: Spinal muscular atrophy type 2
- 'Reading the palm' - A pilot study of grip and finger flexion strength as an outcome measure in 5q spinal muscular atrophy
- A case series evaluating patient perceptions after switching from nusinersen to risdiplam for spinal muscular atrophy
- A real-world study of Nusinersen effects in adults with spinal muscular atrophy type 2 and 3
- 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 observational cohort study on pulmonary function in adult patients with 5q-spinal muscular atrophy under nusinersen therapy
- Assessment of the upper limb function, strength, and mobility in treatment-naive children with spinal muscular atrophy Types 2 and 3
- Barriers and facilitating factors of care coordination for children with spinal muscular atrophy type I and II from the caregivers' perspective: an interview study
- Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review
- 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
- 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
- Cognitive performance of adult patients with SMA before and after treatment initiation with nusinersen
- Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE 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
- 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
- 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 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
- 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
- Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen
- Gene transfer therapy in children with spinal muscular atrophy: A single-center experience with a cohort of 25 children
- Hip Displacement in Spinal Muscular Atrophy: The Influences of Genetic Severity, Functional Level, and Disease-modifying Treatments
- Hirayama Disease: A Rare Case Report and Review
- Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study
- Immunization status of patients with spinal muscular atrophy receiving nusinersen therapy
- Impaired diaphragmatic motility in treatment-naive adult patients with spinal muscular atrophy improved during nusinersen treatment
- 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 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
- Medical rehabilitation of patients with spinal muscular atrophy
- 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
- Monomelic amyotrophy
- Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
- Multiple Lower Limb Fractures in a Child With Spinal Muscular Atrophy Type 2: A Preventable Complication
- Necrotizing Enterocolitis following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series
- Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen
- Neurophysiological Characteristics in Type II and Type III 5q Spinal Muscular Atrophy Patients: Impact of Nusinersen Treatment
- Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea
- Nusinersen induces detectable changes in compound motor action potential response in spinal muscular atrophy type 1 patients with severe impairment of motor function
- Nutritional rickets masquerading as spinal muscular atrophy type III
- Objective measurement of oral function in adults with spinal muscular atrophy
- 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
- Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment
- 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-Life Outcome After Gene Replacement Therapy for Spinal Muscular Atrophy: A Multicenter Experience
- 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
- Respiratory and sleep outcomes in children with SMA treated with nusinersen - real world experience
- 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<sup>®</sup> and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report
- Sex Difference in Spinal Muscular Atrophy Patients - are Males More Vulnerable?
- 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
- Spectrum of sleep-disordered breathing and quality of sleep in adolescent and adult patients with 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 Type III Recognized After Delayed Recovery From Neuromuscular Blockade After an Orthognathic Surgery
- 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
- Translating fatigability in spinal muscular atrophy to clinical trials and management
- Treatment of Symptomatic Spinal Muscular Atrophy with Nusinersen: A Prospective Longitudinal Study on Scoliosis Progression
- Troponin T in spinal and bulbar muscular atrophy (SBMA)
- Understanding caregiver experiences with disease-modifying therapies for spinal muscular atrophy: a qualitative study
- Unilateral interlaminar fenestration on the convex side provides a reliable access for intrathecal administration of nusinersen in spinal muscular atrophy: a retrospective study