Disease: Werdnig-Hoffmann disease
- '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
- Anterior cervical discectomy and fusion for the treatment of pediatric Hirayama disease
- 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
- Clinical efficacy of nusinersen sodium in the treatment of children with spinal muscular atrophy
- Clinical Outcomes of Anterior Cervical Decompression and Fusion Therapy for Patients With Hirayama Disease
- 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
- 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
- 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
- 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
- Impact of Spinal Surgery on Intrathecal Nusinersen Injections in Pediatric Spinal Muscular Atrophy
- 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
- 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
- Minipolymyoclonus revealing Hirayama disease
- 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
- Monomelic Amyotrophy/Hirayama Disease: Surgical Outcome in a Large Cohort of Indian Patients
- Motor unit number estimation via MScanFit MUNE in spinal muscular atrophy
- Multidisciplinary physical rehabilitation program of individuals with spinal muscular atrophy in an inclusive school setting
- 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
- 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
- Onasemnogene Abeparvovec Treatment after Nusinersen in an Infant with Spinal Muscular Atrophy Type 1
- 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
- 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
- Results of neonatal screening for spinal muscular atrophy in Hungary in 2023
- 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
- Sequential treatment with nusinersen, Zolgensma<sup>®</sup> and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report
- 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 Muscle Atrophy
- Spinal muscular atrophy in Ghanaian children confirmed by molecular genetic testing: a case series
- Spinal Muscular Atrophy Mortality Despite Novel Medications: Case Reports
- Spinal Muscular Atrophy Type 1 Survival Without New Pharmacotherapies: Two Treatment Paradigms
- Spinal muscular atrophy type 1: A fatal case in a 1-year-old girl with delayed diagnosis
- 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 emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy
- 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
- Werdnig-Hoffmann Disease