Risdiplam Impact in Treatment Naïve and Non-Naïve Pediatric and Adult Patients With Spinal Muscular Atrophy.

[Comparison of MRI of Paraspinal Muscles in Patients after Open and Minimally Invasive Percutaneous Stabilisation of Thoracic and Lumbar Spine Fractures].

Quantitative Whole-Body Muscle MRI in Adults With Spinal Muscular Atrophy-A Sensitive Tool for Long-Time Evaluation of Disease Progression.

Hirayama disease: an uncommon cause of motor neuron disease.

Evaluating effects of risdiplam in adults with spinal muscular atrophy: a monocentric study.

Sexual health in neuromuscular diseases: Neglected challenges revealed by a scoping review.

Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophy.

A prospective, multi-center, observational study of the safety, tolerability and effectiveness of Nusinersen in adult patients with spinal muscular atrophy.

[Clinical characteristics and genetic analysis of a patient with Kennedy disease with secondary infertility as the initial symptom].

Workshop report: Findings from the 2025 Italian SMAkers Educational Initiative on SMA management in Italy.

Electrophysiological assessment of motor unit loss in adult spinal muscular atrophy types III and IV: a multicenter national study comparing MUNIX, CMAP, and MUSIX.

Administration practice and adherence of nusinersen in adults with 5q-spinal muscular atrophy in China: an ambispective multicenter study.

Development and validation of novel cognitive tests in Mandarin-speaking older Americans.

Outcomes of the national premarital genetic screening program for cystic fibrosis, homocystinuria, and spinal muscular atrophy in Qatar.

Adult Survival in SMA Type 1: A 23-Year Journey With Home Ventilation and Multidisciplinary Support.

Medical Absenteeism and Premature Death in Spinal Muscular Atrophy in Sweden: A Population-Based Matched Register Study of People of Working Age.

Clinical outcome and efficacy of nusinersen in Korean adult patients with 5q spinal muscular atrophy: Nationwide multicenter retrospective study.

CSF and plasma GFAP and VEGF in adult type 3 spinal muscular atrophy patients treated with nusinersen.

From policy to practice: premarital spinal muscular atrophy screening as a public health initiative in northern Türkiye.

A real-world, multicentre, epidemiological study in Czech and Slovak adults with spinal muscular atrophy treated with risdiplam.

Targeted knockdown of Smn in muscle stem cells induces non-cell autonomous loss of motor neurons.

High-dose nusinersen for spinal muscular atrophy: a phase 3 randomized trial.

How to Best Measure Disease Progression in Adult Spinal Muscular Atrophy Patients: A Clinical and Neurophysiological Study.

Assessment of safety and efficacy of risdiplam treatment in adults with spinal muscular atrophy.

The spinal and bulbar muscular atrophy-health index: a disease-specific outcome measure.

Effectiveness of Risdiplam Treatment in Adult Patients With Spinal Muscular Atrophy Type IIb-III.

Circulating Tau Profiles in Pediatric and Adult Patients with Spinal Muscular Atrophy.

Population Physiologically-Based Pharmacokinetic Modeling to Determine Ontogeny: A Quantitative Clinical Pharmacology Example in Pediatric Rare Disease.

Evaluation of Different Controllers for Sensing-Based Movement Intention Estimation and Safe Tracking in a Simulated LSTM Network-Based Elbow Exoskeleton Robot.

Insights into the human pharmacokinetics and metabolism of branaplam, a splicing modulator of a survival motor neuron-2 and huntingtin pre-mRNAs, in infants and adults.

A type IV spinal muscular atrophy with gastrocnemius pseudohypertrophy caused by SMN1 deletion: a case report and literature review.

Motor unit magnetic resonance imaging (MUMRI) as a novel biomarker of muscle activity in spinal muscular atrophy.

Mapping the patient journey of adult patients with Spinal Muscular Atrophy in Greece: key challenges and priorities for action.

Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System.

Pregnancy in women with spinal muscular atrophy (SMA): maternal and neonatal outcomes with multi-speciality management.

Choosing the optimal mouse model for the study of late-onset spinal muscular atrophy: Why the 4-copy SMN2 model offers ideal translational relevance.

Heterogeneous phenotype and cardiovascular comorbidities in Swedish patients with spinobulbar muscular atrophy.

Demographic, clinical and genetic characteristics of patients with amyotrophic lateral sclerosis from two specialised centres in Austria.

Zebrafish genetic model of neuromuscular degeneration associated with Atrogin-1 expression.

Proband-independent noninvasive prenatal diagnosis for spinal muscular atrophy: early detection paving the way for early prenatal treatment.

Matched-pair analysis of motor outcomes in adults with spinal muscular atrophy on nusinersen vs. risdiplam.

Effectiveness and Safety of Nusinersen Among Adults with 5q-Spinal Muscular Atrophy: A Multicenter Disease Registry in China.

Detection of inflammation and glial cell-related biomarkers in adults with spinal muscular atrophy receiving nusinersen therapy.

Testosterone and Long-Pulse-Width Stimulation (TLPS) on Denervated Muscles and Cardio-Metabolic Risk Factors After Spinal Cord Injury: A Pilot Randomized Trial.

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.

Longitudinal evaluation of fatigue in adult patients with spinal muscular atrophy and the impact of disease-modifying drugs.

DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders.

Temperature-induced symptoms in adolescents and adults with spinal muscular atrophy.

Sleep quality, restless legs syndrome and daytime sleepiness in adults with 5q-spinal muscular atrophy.

Neuromuscular Electrical Stimulation Combined With Rehabilitation Training Improves Rehabilitation After Spinal Cord Injury.

Plasma microRNA predict cognitive decline in Parkinson's disease.

A Psychometric Evaluation of Maximum Phonation Time and S/Z Ratio as Pragmatic Outcome Measures of Bulbar Function in Adults With Spinal Muscular Atrophy.

Motor Unit Patterns Correlate With Severity in Symptomatic Patients With Spinal Muscular Atrophy.

Safety and effectiveness of risdiplam in adults with spinal muscular atrophy: a systematic review.

Bone Fragility and Fracture Characteristics in Patients With Spinal and Bulbar Muscular Atrophy.

Real-Time Ultrasound-Guided Intrathecal Delivery of Nusinersen in Adult Patients With Spinal Muscular Atrophy and Complex Spinal Anatomy.

[Pregnancy in women with Spinal Muscular Atrophy: A survey conducted by french patients, with commentary from the Lille Reference Center for Neuromuscular Diseases].

Limitations in activities of daily living in individuals with spinal muscular atrophy: A scoping review and multidisciplinary recommendations for clinical practice.

Therapeutic impact of leuprorelin acetate on spinal and bulbar muscular atrophy: pre- and post-marketing observational study.

Screening and Prenatal Diagnosis of Spinal Muscular Atrophy among Reproductive-Age Individuals from the Hubei Region.

Spinal Muscular Atrophy Carrier Screening: Assessment of Provider Knowledge and Clinical Practice.

Concurrent diagnosis of spinal muscular atrophy and trisomy 21: Value of comprehensive analysis in prenatal genetic testing.

Anti-Signal Recognition Particle Antibody-Positive Immune-Mediated Necrotizing Myopathy Diagnosed by Re-Evaluation 40 Years After Symptom Onset.

A plain language summary of the SAPPHIRE clinical trial of apitegromab in children and young adults with spinal muscular atrophy.

The Neuromuscular Junction: A Shared Vulnerability in Aging and Disease.

Respiratory muscle activity and fatigue response during respiratory endurance testing in patients with spinal muscular atrophy.

The case of a highly trained TRPV4 related scapuloperoneal spinal muscular atrophy patient: a 5-year follow-up.

Mapping Health State Utility from Disease-Specific Measures in Spinal Muscular Atrophy and Paroxysmal Nocturnal Hemoglobinuria.

Efficacy and safety of risdiplam in adults with 5q-associated spinal muscular atrophy: a nationwide observational cohort study in Austria.

Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q-Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study.

[A family with nonsynonymous mutations of filamin C actin-binding domain].

Real-world evidence on nusinersen treatment of persons with SMA: a focused review.

Turkish men's experiences of positive SMA carrier results: a qualitative study within a gendered screening framework.

Parkinson's disease-associated camptocormia: biopsy-confirmed focal myositis and treatment options.

Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts.

A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy.

Central eye movement abnormalities in patients with SMA types II and III.

Beyond motor neurons: autonomic dysfunction and ECG findings in adults with 5q-spinal muscular atrophy.

Summary of Research: Fertility Outcomes in Risdiplam-Treated Male Patients with Spinal Muscular Atrophy: A Multicenter Case Series.

Effect of a Wearable Sensor-Based Posture Correction Brace on Static Balance and Posture in Parkinson's Disease.

Disease characteristics and treatment status of genetically confirmed spinal muscular atrophy patients: a cross-sectional survey in China.

Reviewer Comment on Slayter et al. "An Exploratory 12-Month Observational Study of Adults with Spinal Muscular Atrophy: Learning from Our Tools".

Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features.

Intramuscular and Intravenous AAV-Mediated Gene Delivery in Mouse Models.

[A case of spinal and bulbar muscular atrophy with acute bilateral vocal cord paralysis suddenly apparent after infection].

Bereavement Experiences Among Parents of Children With Spinal Muscular Atrophy Type 1.

Comparative impact of body composition from abdominal computed tomography and paraspinal muscle degeneration on subsequent vertebral fracture risk.

Analyzing real-world adverse events of spironolactone with the FAERS database.

A Modeling Investigation of the CYP1A Drug Interactions of Riluzole.

Understanding the experiences of adults with spinal muscular atrophy & their transition to an adult program: A mixed methods study.

Mental Health, Quality of Life, and Work Functioning of Parents of Children Who Have Died of Spinal Muscular Atrophy.

State of the art: Pregnancy in spinal muscular atrophy in the treatment era.

Coexisting Rheumatoid Arthritis and Spinal Muscular Atrophy: A Case Report.

Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0.

Respiratory function in 192 adult patients with spinal muscular atrophy (SMA) treated with nusinersen - a multicenter observational study.

Central Neurophysiological Alterations in Dystrophic mdx Mice Correlate With Reduced Hippocampal Levels of the Endogenous NMDA Receptor Ligand D-Aspartate.

Co-occurrence of ipsilateral partial Horner's syndrome in a patient with monomelic amyotrophy.

Managing Spinal Muscular Atrophy: A Look at the Biology and Treatment Strategies.

A VAPB (P56S) mutation in a Dutch patient with familial motor neuron disease: a case report.

Effective and safe use of alirocumab in spinal and bulbar muscular atrophy with high cardiovascular risk: a case report.

[Multi-system involvement characteristics and influencing factors of disease progression in Kennedy's disease].

Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy.

Comorbidities in spinal muscular atrophy and their impact on the course of the underlying disease: a real-life observational study.

Advancing personalized spinal muscular atrophy care: matching the right biomarker to the right patient at the right time.

Evaluating the Effects of Nusinersen Treatment in Adults With Spinal Muscular Atrophy Using Axonal Excitability and MscanFit MUNE.

Neuronal Pentraxin 2 as a Potential Biomarker for Nusinersen Therapy Response in Adults with Spinal Muscular Atrophy: A Pilot Study.

Elevated Urinary Titin in Adult Spinal Muscular Atrophy: A Multicenter, Cross-Sectional Observational Study.

Financial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders: The BIND Study.

Correlation analysis between multifidus muscle atrophy and the severity of degenerative scoliosis retrospective, cross-sectional study.

Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial.

Spinal and bulbar muscular atrophy with hand tremors and chronic limb weakness, Kennedy disease.

Outcomes of genetic testing and prenatal diagnosis of spinal muscular atrophy in Jordan.

Nusinersen corrects L-arginine deficiency in the cerebrospinal fluid of patients with severe spinal muscular atrophy.

CSF and blood neuronal injury biomarkers in spinal bulbar muscular atrophy and amyotrophic lateral sclerosis 4.

Impact of paravertebral muscular atrophy in acute work-related low back pain: a retrospective cohort study.

Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project.

A case series on the effect of lidocaine injection on camptocormia in Parkinson disease: Determination of injection site using muscle hardness tester.

[An autopsy case of spinal bulbar muscular atrophy concomitant with multiple system atrophy pathology].

Enhancing Drug Development for Paediatric Pulmonary Hypertension-An Integrative Perspective.

DCTN1-associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy.

An Exploratory 12-Month Observational Study of Adults with Spinal Muscular Atrophy: Learning From Our Tools.

Hirayama Disease in a Young Male: A Case Report.

REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France.

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers.

Equity in neuromuscular research: a 20-year analysis of race, ethnicity, sex, and age representation.

Central Pathophysiology and Brain Network Changes Related to Camptocormia in Parkinson's Disease.

Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts.

Gestational Age at Birth and Clinical Manifestations of Spinal Muscular Atrophy.

Systematic Review and Meta-analysis of Long-Term Nusinersen Effectiveness in Adolescents and Adults with Spinal Muscular Atrophy.

Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen.

Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.

Identifying Clinical Measures Related to Falls in Ambulatory Patients with Spinal and Bulbar Muscular Atrophy.

Wearable-Derived Patterns of Performance Fatigability During Gait in Spinal Muscular Atrophy.

Quantitative cervical cord MRI in spinal muscular atrophy: a sensitive imaging biomarker of disease evolution and treatment.

Oral function tests in spinal muscular atrophy: closing the diagnostic gap in severely affected adult patients : A prospective observational study.

Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.

Cervical Muscle Composition in Degenerative Dropped Head Syndrome: A Propensity Score Matching Study.

Hearing Function in Spinal and Bulbar Muscular Atrophy (SBMA): A Case Control Study From a Tertiary Referral Center.

Italian validation of the SMA independence scale-upper limb module.

Two-year Risdiplam treatment in adults with spinal muscular atrophy: improvements in motor and respiratory function, quality of life and fatigue.

Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers.

Real-world data on the effect of long-term treatment with nusinersen over > 4 years in a cohort of Swiss patients with spinal muscular atrophy.

Differentiating upper- and lower motor neuron diseases using automated acoustic analysis.

Association between sarcopenia on residual back pain after percutaneous kyphoplasty for osteoporotic vertebral compression fractures.

Dissection and Whole-Mount Immunofluorescent Staining of Mouse Hind Paw Muscles for Neuromuscular Junction Analysis.

Quality of Life, Caregiver Burden, and Symptoms of Depression and Anxiety in Parents of Children with Spinal Muscular Atrophy: A Comparison with Healthy Controls.

Antisense oligonucleotide jacifusen for FUS-ALS: an investigator-initiated, multicentre, open-label case series.

Carrier screening for survival motor neuron variants in 7709 pregnant women from Foshan, Guangdong Province.

Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America.

Pain in adult and adolescent patients with 5q-associated Spinal Muscular Atrophy - an often underrated phenomenon.

A perioperative nursing care protocol for patients with spinal muscular atrophy (SMA) type II or type III undergoing spinal surgery: a 4-year experience in 24 patients.

Thinking outside the box: A re-evaluation of Canadian recommended outcome measures in adult spinal muscular atrophy - report of a national consensus workshop.

Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights.

[Carrier screening and prenatal diagnosis for Spinal muscular atrophy in 17 926 women of reproductive age in Chongqing].

Postmarketing adverse events associated with onasemnogene abeparvovec: a real-world pharmacovigilance study.

Kennedy's disease from India: An Indian Cohort with multisystemic manifestations.

Different Properties of the Erector Spinae and Multifidus Muscles on Physical Performance in Patients With Chronic Obstructive Pulmonary Disease.

Long-Term Effects of Nusinersen Dosing Frequency on Adult Patients With Spinal Muscular Atrophy: Efficacy of a 6-Month Dosing Interval.

SMA Community Priorities for Future Drug Therapies: Cross-Sectional Survey Findings Representing 410 Adults with SMA.

Cerebrospinal fluid biomarkers of efficacy in patients affected by spinal muscular atrophy type 1 treated with nusinersen.

Serum creatinine to cystatin C ratio as monitoring biomarker in Chinese adult spinal muscular atrophy: a prospective cohort study.

Aseptic meningoencephalitis during nusinersen therapy in a patient with type III spinal muscular atrophy: a case report.

The safety of COVID-19 vaccines in a large French series of patients with neuromuscular conditions and the impacts of vaccination on their daily lives.

Development and Assessment of a Soft Wearable for sEMG-Based Hand Grip Detection and Control of a Virtual Environment.

Analysis of Eye Movements in Adults with Spinal Muscular Atrophy.

Upper Extremity Surgery in Hirayama Disease: A Modification of the Current Algorithm.

Enhancing the effects of nusinersen with cybernic treatment using Hybrid Assistive Limb (HAL) in spinal muscular atrophy: a real-world case series and exploratory cohort analysis.

Early functional training is not superior to routine rehabilitation in improving walking distance and multifidus atrophy after lumbar fusion: a randomized controlled trial with 6-month follow-up.

Operative treatment of severe scoliosis and pelvic obliquity in patients with spinal muscular atrophy: assessment of outcomes and complications.

Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies.

Alterations of Fat and Ketone Body Metabolism in ALS and SMA-A Prospective Observational Study.

Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.

[5q spinal muscular atrophy in adults].

[Spinal Muscular Atrophy: The Reality of the Adult Patient in Spain].

Exploring sleep quality, depressive symptoms, and quality of life in adults with spinal muscular atrophy.

Electrodiagnostic studies in the diagnosis of Hirayama disease: a focus on early identification.

Mechanisms of functional improvement behind nusinersen treatment in adult spinal muscular atrophy.

Prenatal genetic counseling challenges with indeterminate SMA results.

Rehabilitation practices for childhood spinal muscular atrophy.

Weighted cart pull: A novel outcome measure for sustained motor function in mice.

Patients on treatment with risdiplam in Italy: challenges in the interpretation of the real-world data.

Epidemiology of spinal muscular atrophy in Aotearoa-New Zealand.

Fertility Outcomes in Risdiplam-Treated Male Patients with Spinal Muscular Atrophy: A Multicenter Case Series.

Setting multidisciplinary intervention goals for spinal muscular atrophy patients utilizing the international classification of functioning, disability, and health: a pilot study in a small sample sizes.

Fluoroscopic guidance for intrathecal delivery of nusinersen in pediatric patients with spinal muscular atrophy and complex spines.

Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.

Views of the Public and Healthcare Professionals on Newborn Screening for Spinal Muscular Atrophy and the Potential for Detecting Adult-Onset Types in Patients-in-Waiting in Hong Kong.

Intraoperative Neurophysiological Monitoring During Scoliosis Surgery in Patients with Spinal Muscular Atrophy.

Patient-reported assessment of bulbar function in spinal muscular atrophy (SMA): Validation of a self-report scale.

Brazilian Portuguese version of the revised upper-limb module: cross-cultural adaptation and validation.

Whole-body muscle MRI in patients with spinal muscular atrophy.

Long-term CSF responses in adult patients with spinal muscular atrophy type 2 or 3 on treatment with nusinersen.

Carrier Frequency of Autosomal Recessive Diseases in a Population Attending a Human Fertility Institute in Colombia.

Exploring the Prevalence of SMN1 Duplication and Deletion in Russia and Its Impact on Carrier Screening.

Adiponectin and Leptin-Considerations in Adult Patients with Spinal Muscular Atrophy Type 3.

Families' experiences and perspectives on the early use of powered mobility in children with spinal muscular atrophy type I in the natural context.

Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome.