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- Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach
- Biomarkers in 5q-associated spinal muscular atrophy-a narrative review
- Dropped Head Syndrome As a Presenting Sign of Different Diseases: Report of Three Cases
- Top ten discoveries of the year: Neuromuscular disease
- Neuromuscular disease: 2021 update
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- Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum
- A Critical Appraisal of Matching-Adjusted Indirect Comparisons in Spinal Muscular Atrophy
- Alignment of magnetic sensing and clinical magnetomyography
- Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models
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- X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease
- VRK1 variants at the cross road of Cajal body neuropathogenic mechanisms in distal neuropathies and motor neuron diseases
- Applications of brain-computer interfaces in neurodegenerative diseases
- Spinal Muscular Atrophy Type III Recognized After Delayed Recovery From Neuromuscular Blockade After an Orthognathic Surgery
- Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen
- Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children: A Cross-Sectional Study
- Identification of Novel Biomarkers of Spinal Muscular Atrophy and Therapeutic Response by Proteomic and Metabolomic Profiling of Human Biological Fluid Samples
- Real World Evidence on the Effectiveness of Nusinersen within the National Program to Treat Spinal Muscular Atrophy in Poland
- Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities
- Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency
- Simple and efficient differentiation of human iPSCs into contractible skeletal muscles for muscular disease modeling
- Detection of FLAD1 mutations and lipid storage myopathy in a 5-year-old boy: a case report study
- Decision-making and challenges within the evolving treatment algorithm in spinal muscular atrophy: a clinical perspective
- HnRNPR strongly represses splicing of a critical exon associated with spinal muscular atrophy through binding to an exonic AU-rich element
- Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England
- Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation
- Cerebellar structural, astrocytic, and neuronal abnormalities in the SMNΔ7 mouse model of spinal muscular atrophy
- In a zebrafish biomedical model of human Allan-Herndon-Dudley syndrome impaired MTH signaling leads to decreased neural cell diversity
- Results of carrier screening for Spinal muscular atrophy among 35 145 reproductive-aged individuals from Dongguan region
- Development of an International SMA Bulbar Assessment for Inter-professional Administration
- A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing
- Necrotizing Enterocolitis Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series
- Glycerol induced paraspinal muscle degeneration leads to hyper-kyphotic spinal deformity in wild-type mice
- Fetal first-trimester cystic hygroma as the prenatal presenting feature of ASCC1-related Spinal Muscular Atrophy with Bone Fractures 2
- Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies
- Recent Advances in Novel Therapies for Neurological Diseases: An Overview and Future Scope
- Treatment of Spinal Muscular Atrophy
- Drug Administration for Childhood Neurological Disorders
- Examination of Upper Limb Function and the Relationship with Gross Motor Functional and Structural Parameters in Patients with Spinal Muscular Atrophy
- RNA Transcript Diversity in Neuromuscular Research
- Subjective Sleep Quality as it Relates to Cognitive and Physical Function in Spinal Muscular Atrophy Patients
- Adverse events in the treatment of spinal muscular atrophy in children and adolescents with nusinersen: A systematic review and meta-analysis
- Clinical applications of gene therapy for rare diseases: A review
- Likely pathogenic variant in the BICD2 gene in fetus presenting with non-immune hydrops
- On “Clinical and Research Readiness for Spinal Muscular Atrophy: The Time Is Now for Knowledge Translation.” Krosschell KJ, Young SD, Peterson I, et al. Phys Ther. 2022;102:pzac108. https://doi.org/10.1093/Ptj/pzac108
- Study of Safety and Dosing Effect on SMN Levels of Valproic Acid (VPA) in Patients With Spinal Muscular Atrophy
- Too much information? Asian Americans’ preferences for incidental brain MRI findings
- Glucagon-like peptide-1 analog therapy in rare genetic diseases: monogenic obesity, monogenic diabetes, and spinal muscular atrophy
- Corneal confocal microscopy reveals small nerve fibre loss correlating with motor function in adult spinal muscular atrophy
- Tudor-dimethylarginine interactions: the condensed version
- Posterior spinal fusion in patients with spinal muscular atrophy: a surgical technique to allow intrathecally inject nusinersen
- The regulatory role of alternative splicing in inflammatory bowel disease
- Real-Life Outcome After Gene Replacement Therapy for Spinal Muscular Atrophy: A Multicenter Experience
- Estimation of FMO3 Ontogeny by Mechanistic Population Pharmacokinetic Modelling of Risdiplam and Its Impact on Drug-Drug Interactions in Children
- Gene Therapy for Dopamine Dyshomeostasis: From Parkinson’s to Primary Neurotransmitter Diseases
- Dysregulation of Aldh1a2 underlies motor neuron degeneration in spinal muscular atrophy
- Immunization status of patients with spinal muscular atrophy receiving nusinersen therapy
- ATS Core Curriculum 2022. Pediatric Pulmonary Medicine: Updates in pediatric neuromuscular disease
- An Hspa8 variant is a shocking modifier of spinal muscular atrophy in mice
- Medical rehabilitation of patients with spinal muscular atrophy
- Objective measurement of oral function in adults with spinal muscular atrophy
- Distinguishing between DNA-Loaded Full and Empty Capsids of Adeno-Associated Virus with Atomic Force Microscopy Imaging
- Post-polio syndrome presenting as isolated neck extensor myopathy: a case report
- A QSAR study to predict the survival motor neuron promoter activity of candidate diaminoquinazoline derivatives for the potential treatment of spinal muscular atrophy
- Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review
- Iliopsoas Muscle Weakness as a Key Diagnostic Marker in HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP)
- Redox Imbalance in Neurological Disorders in Adults and Children
- Nifedipine Ameliorates Cellular Differentiation Defects of Smn-Deficient Motor Neurons and Enhances Neuromuscular Transmission in SMA Mice
- Effectiveness of Nusinersen in Type 1, 2 and 3 Spinal Muscular Atrophy: Croatian Real-World Data
- Scoliosis Treatment With Growth-Friendly Spinal Implants (GFSI) Relates to Low Bone Mineral Mass in Children With Spinal Muscular Atrophy
- The Alterations of Gut Microbiome and Lipid Metabolism in Patients with Spinal Muscular Atrophy
- Burden of disease of spinal muscular atrophy linked to chromosome 5q (5q-SMA) in Colombia
- Longitudinal prospective cohort study to assess peripheral motor function with extensive electrophysiological techniques in patients with Spinal Muscular Atrophy (SMA): the SMA Motor Map protocol
- Translating fatigability in spinal muscular atrophy to clinical trials and management
- Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 1 Patients
- Role of the Osteocyte in Musculoskeletal Disease
- AMPK is mitochondrial medicine for neuromuscular disorders
- Recommendations for economic evaluations of cell and gene therapies: a systematic literature review with critical appraisal
- Regional spreading pattern is associated with clinical phenotype in amyotrophic lateral sclerosis
- Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)
- Comparison of neurofilament light and heavy chain in spinal muscular atrophy and amyotrophic lateral sclerosis: A pilot study
- Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment
- Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene
- Improvement of muscle strength in specific muscular regions in nusinersen-treated adult patients with 5q-spinal muscular atrophy
- New therapies for spinal muscular atrophy: where we stand and what is next
- MiR34 contributes to spinal muscular atrophy and AAV9-mediated delivery of MiR34a ameliorates the motor deficits in SMA mice
- Gene Therapy for Spinal Muscular Atrophy (SMA): A Review of Current Challenges and Safety Considerations for Onasemnogene Abeparvovec (Zolgensma)
- An observational cohort study on pulmonary function in adult patients with 5q-spinal muscular atrophy under nusinersen therapy
- Genotype and clinical phenotype analysis of a Family with Kennedy disease
- Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR
- Sex and Gender Differences in Neurodegenerative Diseases: Challenges for Therapeutic Opportunities
- Microscopic and Biochemical Hallmarks of BICD2 -Associated Muscle Pathology toward the Evaluation of Novel Variants
- Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy
- Mechanical Insufflation-Exsufflation: The Rest of the Story
- Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen
- Muscle Ultrasound Changes Correlate With Functional Impairment in Spinal Muscular Atrophy
- Diverse targets of SMN2-directed splicing-modulating small molecule therapeutics for spinal muscular atrophy
- Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018
- Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy
- CHCHD2 and CHCHD10-related neurodegeneration: molecular pathogenesis and the path to precision therapy
- Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth
- ERK MAPK signaling pathway inhibition as a potential target to prevent autophagy alterations in Spinal Muscular Atrophy motoneurons
- Structural and functional characterization of capsid binding by anti-AAV9 monoclonal antibodies from infants after SMA gene therapy
- Safety and Efficacy of NMD670 in Ambulatory Adult Patients With Type 3 Spinal Muscular Atrophy
- Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses
- Elevated plasma p-tau181 levels unrelated to Alzheimer’s disease pathology in amyotrophic lateral sclerosis
- Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study
- Editorial: Advances in spinal muscular atrophy
- Personalized treatment options for spinal muscular atrophy
- The White Coat Cape: An Ethical Analysis of Emerging Therapies to Treat Spinal Muscular Atrophy
- Treating neurodegenerative disease: Nusinersen and other therapeutic strategies for improved motor function
- Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation
- Base editing rescue of spinal muscular atrophy in cells and in mice
- Update on drug treatment of spinal muscular atrophy
- Carrier frequency of Spino-muscular atrophy in individuals of a reproductive age group from North India
- Evolving regulatory perspectives on digital health technologies for medicinal product development
- Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. Genes 2022, 13 , 2110
- Orphan Drugs in Neurology-A Narrative Review
- Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study
- Subcutaneous Intrathecal Catheter and Port for Repetitive Nusinersen Administration
- The RESISTANT study (Respiratory Muscle Training in Patients with Spinal Muscular Atrophy): study protocol for a randomized controlled trial
- Intermolecular And Dynamic Investigation of The Mechanism of Action of Reldesemtiv on Fast Skeletal Muscle Troponin Complex Toward the Treatment of Impaired Muscle Function
- Generation of functional posterior spinal motor neurons from hPSCs-derived human spinal cord neural progenitor cells
- Review of economic modeling evidence from NICE appraisals of rare disease treatments for spinal muscular atrophy
- Modern principles of therapy for patients with spinal muscular atrophy
- Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients
- A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture
- Procedural Sedation for Pediatric Patients with Spinal Muscular Atrophy Undergoing Intrathecal Treatment
- Ultrasound-enhanced brain delivery of edaravone provides additive amelioration on disease progression in an ALS mouse model
- Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy
- Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders
- Neurodevelopmental defects as a primer of neurodegeneration: lessons from spinal muscular atrophy and Huntington’s disease
- Spinal Muscular Atrophy: A New Frontier but the Same Old Boundaries
- Spinal muscular atrophy and anorexia nervosa: a case report
- Clinical features and pathogenesis of scoliosis due to spinal astrocytoma
- Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)
- The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations
- Human Neuromuscular Junction on a Chip: Impact of Amniotic Fluid Stem Cell Extracellular Vesicles on Muscle Atrophy and NMJ Integrity
- Pathophysiology and Management of Fatigue in Neuromuscular Diseases
- 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants
- A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry
- Best practice recommendations for speech-language pathology in children with neuromuscular disorders: A Delphi-based consensus study
- Reproductive findings in male animals exposed to selective survival of motor neuron-2 (SMN2) gene splicing modifying agents
- Neurocognitive profile of a cohort of SMA type 1 pediatric patients and emotional aspects, resilience and coping strategies of their caregivers
- Airway clearance in patients with neuromuscular disease
- Variability in newborn screening across Canada: spinal muscular atrophy and beyond
- The TUDOR domain of SMN is an H3K79me1 histone mark reader
- A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy
- Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation
- Chemistry, structure and function of approved oligonucleotide therapeutics
- Type I Spinal Muscular Atrophy patients treated with nusinersen: 4 year follow-up of motor, respiratory and bulbar function
- Pathways to healing: Plants with therapeutic potential for neurodegenerative diseases
- Re-evaluation of the symptoms of Hirayama disease through anatomical perspective
- SMN post-translational modifications in spinal muscular atrophy
- Atypical Presentation of Hirayama Disease Involving the Cervico-Thoracic Segment Causing Diagnostic Dilemma: A Case Report
- Integrative genetic and single cell RNA sequencing analysis provides new clues to the amyotrophic lateral sclerosis neurodegeneration
- Prepare for the worst…Hope for the best
- Respiratory phenotypes in ALS as determined by respiratory questions of the ALSFRS-R and their relation to respiratory tests
- Longitudinal Assessment of Timed Function Tests Over Time in Ambulatory Individuals with SMA Treated with Nusinersen
- Successful weaning from the invasive respiratory support after nusinersen treatment in a child with SMA type 1: A case report
- Myopathic changes caused by protein aggregates in adult-onset spinal muscular atrophy
- Editorial: Viral vector-based gene therapy in neurological disease: The future is now
- A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses
- Facial nerve vulnerability in spinal muscular atrophy and motor unit number index (MUNIX) of the orbicularis oculi muscle
- Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province
- Neuroinflammation in spinal muscular atrophy
- Depression, anxiety and sleep quality of caregivers of children with spinal muscular atrophy
- Presymptomatic spinal muscular atrophy: a cautionary approach to the proposed new terminology
- Nusinersen for adults with spinal muscular atrophy
- Treatment of spinal muscular atrophy with Onasemnogene Abeparvovec in Switzerland: a prospective observational case series study
- Study of the Safety and Efficacy of an Adeno-Associated Viral Vector Carrying the SMN Gene After a Single Intravenous Administration of Escalating Doses in Children With Spinal Muscular Atrophy (BLUEBELL)
- Early recognition, diagnosis and treatment of spinal muscular atrophy
- Dysfunctional mitochondria accumulate in a skeletal muscle knockout model of Smn1, the causal gene of spinal muscular atrophy
- Longitudinal developmental profile of newborns and toddlers treated for spinal muscular atrophy
- Long-Term SMN – and Ncald -ASO Combinatorial Therapy in SMA Mice and NCALD -ASO Treatment in hiPSC-Derived Motor Neurons Show Protective Effects
- Sporadic Spinal-Onset Amyotrophic Lateral Sclerosis Associated with Myopathy in Three Unrelated Portuguese Patients
- First Use of Non-Invasive Spinal Cord Stimulation in Motor Rehabilitation of Children with Spinal Muscular Atrophy
- Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions
- A comprehensive overview of SMN and NAIP copy numbers in Iranian SMA patients
- Comparison of Distal Spine Anchors and Distal Pelvic Anchors in Children With Hypotonic Neuromuscular Scoliosis Treated With Growth-friendly Instrumentation
- Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study
- Huntingtin-associated protein 1-associated intracellular trafficking in neurodegenerative diseases
- Gene therapy for alpha-1 antitrypsin deficiency: an update
- Gene Therapies in Motor Neuron Diseases ALS and SMA
- Risdiplam in non-sitter patients aged 16 years and older with 5q spinal muscular atrophy
- Gene therapy for selected neuromuscular and trinucleotide repeat disorders – An insight to subsume South Asia for multicenter clinical trials
- Pain in Spinal Muscular Atrophy: A Questionnaire Study
- Comprehensive assessment model for patients with spinal muscular atrophy: proposal of tools for clinical practice and real-world studies
- Bibrachial Amyotrophy Due to Spontaneous Spinal Cerebrospinal Fluid Leak
- Camptocormia as an Unusual Presenting Symptom of Myotonic Dystrophy Type 2: An Overlooked Cause of Axial Myopathy
- Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4
- Assessing validity of the EQ-5D-5L proxy in children and adolescents with Duchenne muscular dystrophy or spinal muscular atrophy
- Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany
- A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of BIIB115
- Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial
- Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis
- Spinal muscular atrophy with hypoplasia of the corpus callosum: a case report
- Mechanisms of action and patentability of therapeutic oligonucleotides
- Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population
- The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome
- Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients
- Sleep disorders in patients with neuromuscular diseases
- Spinal Muscular Atrophy Treatment: The MTOR Regulatory Intervention
- Economic evaluation of population-based expanded reproductive carrier screening for genetic diseases in Australia
- User-perceived impact of long-term mechanical assisted cough in paediatric neurodisability
- Plastin 3 rescues BDNF-TrkB signaling in spinal muscular atrophy
- Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study
- Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes
- The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy
- Current attitudes toward carrier screening for spinal muscular atrophy among pregnant women in Eastern China
- Depletion of plasma thymidine results in growth retardation and mitochondrial myopathy in mice overexpressing human thymidine phosphorylase
- The SMN Complex at the Crossroad between RNA Metabolism and Neurodegeneration
- SMN Deficiency Destabilizes ABCA1 Expression in Human Fibroblasts: Novel Insights in Pathophysiology of Spinal Muscular Atrophy
- Evaluation of sputum cultures in children with spinal Muscular atrophy
- An Overview of the Therapeutic Strategies for the Treatment of Spinal Muscular Atrophy
- Surgical correction of a ventricular septal defect in a child with spinal muscular atrophy type 2 treated with nusinersen sodium: a case report
- Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model
- Cost-effectiveness of IVF with PGT-M/A to prevent transmission of spinal muscular atrophy in offspring of carrier couples
- Neuromuscular junction disorders: Experimental models and pathophysiological mechanisms
- LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice
- Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle
- AAV vectors applied to the treatment of CNS disorders: Clinical status and challenges
- Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)
- Brain-protective mechanisms of autophagy associated circRNAs: Kick starting self-cleaning mode in brain cells via circRNAs as a potential therapeutic approach for neurodegenerative diseases
- Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy: A systematic review and meta-analysis
- Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1
- DG9-conjugated morpholino rescues phenotype in SMA mice by reaching the CNS via a subcutaneous administration
- Bicalutamide and Trehalose Ameliorate Spinal and Bulbar Muscular Atrophy Pathology in Mice
- Base editing as a genetic treatment for spinal muscular atrophy
- Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing
- Application of single sperm sequencing for the preimplantation genetic testing of a Chinese family affected with Spinal muscular atrophy
- SHEAR WAVE ELASTOGRAPHY IN PATIENTS WITH SPINAL MUSCULAR ATROPHY TYPE 2-3
- Antisense Oligonucleotide Therapeutics for Cystic Fibrosis: Recent Developments and Perspectives
- Role of paraspinal muscle degeneration in the occurrence and recurrence of osteoporotic vertebral fracture: A meta-analysis
- Assessment of motor function and nutritional status in children with spinal muscular atrophy treated with nusinersen after loading period in Western China: a retrospective study
- Progress and challenges in directing the differentiation of human iPSCs into spinal motor neurons
- An Integrated Physiotherapeutic Approach With Virtual Reality in Schizophrenic Patients With Ipsilateral Femoral Shaft and Intertrochanteric Fractures: A Case report
- Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers-A Prospective, Cross-Sectional, Multi-Center Analysis
- Electrical Stimulation for Preventing Skin Injuries in Denervated Gluteal Muscles-Promising Perspectives from a Case Series and Narrative Review
- Gene Therapy in ALS and SMA: Advances, Challenges and Perspectives
- Identification of Novel CSF-Derived miRNAs in Treated Paediatric Onset Spinal Muscular Atrophy: An Exploratory Study
- Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing
- Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study
- Newborn screening for spinal muscular atrophy
- Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy
- Dysphagia and Lung Disease in Children With Spinal Muscular Atrophy Treated With Disease Modifying Agents
- Diminished motor neuron activity driven by abnormal astrocytic EAAT1 glutamate transporter activity in spinal muscular atrophy is not fully restored after lentiviral SMN delivery
- Inpatient rehab admission for a patient with spinal muscular atrophy status post gene therapy
- Criterion validity of the spatial exploration test of upper limb mobility to evaluate the active horizontal workspace of children with spinal muscular atrophy
- Nusinersen treatment in a type 3 spinal muscular atrophy patient during early pregnancy
- Examining Real-World Adherence to Nusinersen for the Treatment of Spinal Muscular Atrophy Using Two Large US Data Sources
- Progress in Clinical Gene Therapy for Cardiac Disorders
- Anxiety in children with SMA – An underestimated problem
- Commentary on “Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect”
- DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum
- Needleless inhaled anesthesia with sevoflurane: advantages of a simplified approach for children with spinal muscular atrophy undergoing intrathecal administration of nusinersen
- Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2-4
- NeuroLINCS Proteomics: Defining human-derived iPSC proteomes and protein signatures of pluripotency
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- Synthetic Biology Design as a Paradigm Shift toward Manufacturing Affordable Adeno-Associated Virus Gene Therapies
- Hybrid reflected-ultrasound computed tomography versus B-mode-ultrasound for muscle scoring in spinal muscular atrophy
- Effects of the Jokela Type of Spinal Muscular Atrophy-Related G66V Mutation on the Structural Ensemble Characteristics of CHCHD10
- Adeno-associated virus vector intraperitoneal injection induces colonic mucosa and submucosa transduction and alters the diversity and composition of the faecal microbiota in rats
- Parents’ dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1
- Survival motor neuron protein and neurite degeneration are regulated by Gemin3 in spinal muscular atrophy motoneurons
- General movements in spinal muscular atrophy type 1
- Usefulness of YouTube in Sharing Information about New Gene Therapy for Spinal Muscular Atrophy: A Content Analysis
- Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function
- Plastin 3 rescues cell surface translocation and activation of TrkB in spinal muscular atrophy
- Biodistribution of adeno-associated virus gene therapy following CSF-directed administration
- Psychometric Evaluation of modified Spinal Muscular Atrophy Functional Rating Scale (SMAFRS) in adult patients using Rasch Analysis
- Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China
- Utility estimations of different health states of patients with type I, II, and III spinal muscular atrophy in China: A mixed approach study with patient and proxy-reported data
- Correlation between atrophy of the gluteus medius muscle and symptoms of lumbar spinal stenosis
- SMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis
- Agonist of growth hormone-releasing hormone improves the disease features of spinal muscular atrophy mice
- Management of Critically Ill Patients With Spinal Muscular Atrophy Admitted With Acute Respiratory Failure
- Cerebral Aβ deposition in an Aβ-precursor protein-transgenic rhesus monkey
- The length of uninterrupted CAG repeats in stem regions of repeat disease associated hairpins determines the amount of short CAG oligonucleotides that are toxic to cells through RNA interference
- The roles of HSP40/DNAJ protein family in neurodegenerative diseases
- Addressing the implementation gap in advanced therapeutics for spinal muscular atrophy in the era of newborn screening programs
- Metabolic assessment in children with neuromuscular disorders shows risk of liver enlargement, steatosis, and fibrosis
- Feasibility of Intrathecal Therapeutic Injections in Spinal Muscular Atrophy Patients via a Percutaneous Trans-Sacral Hiatus Route: An Initial Neuroimaging Morphometric Study
- Genetics and”democracy”
- Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study
- Behavioral problems in infants and young children with spinal muscular atrophy and their siblings: A cross-sectional study
- Prospective Analysis of Functional and Structural Changes in Patients with Spinal Muscular Atrophy-A Pilot Study
- Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening
- Social Media as a Source of Knowledge about Gene Therapy for Spinal Muscular Atrophy
- Communication of the Diagnosis of Spinal Muscular Atrophy in the Views of Patients and Family Members, a Qualitative Analysis
- Spinal Irisin Gene Delivery Attenuates Burn Injury-Induced Muscle Atrophy by Promoting Axonal Myelination and Innervation of Neuromuscular Junctions
- Spinal Cord Injury Causes Marked Tissue Rearrangement in the Urethra-Experimental Study in the Rat
- Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders
- Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts
- Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1
- Tissue Engineering Applied to Skeletal Muscle: Strategies and Perspectives
- Current treatments of spinal muscular atrophy in adults
- Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement
- Disease Burden in Children With Spinal Muscular Atrophy: Results From a Large Cross-Sectional Study
- A Breakthrough Effect of Gene Replacement Therapy on Respiratory Outcomes in Children with Spinal Muscular Atrophy
- Adherence and Persistence to Nusinersen for Spinal Muscular Atrophy: A US Claims-Based Analysis
- Patient Reported Outcome Measures in Adult Spinal Muscular Atrophy: A Scoping Review and Graphical Visualization of the Evidence
- Inflammatory markers in cerebrospinal fluid of paediatric spinal muscular atrophy patients receiving nusinersen treatment
- Room to improve: The diagnostic journey of Spinal Muscular Atrophy
- The Japan Registry for Adult Subjects of Spinal Muscular Atrophy (jREACT-SMA): Protocol for a Longitudinal Observational Study
- Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review
- Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2
- Total tau in cerebrospinal fluid detects treatment responders among spinal muscular atrophy types 1-3 patients treated with nusinersen
- Electromagnetic field stimulation facilitates motor neuron excitability, myogenesis and muscle contractility in spinal cord transected rats
- Thoracic Jia-Ji electro-acupuncture mitigates low skeletal muscle atrophy and improves motor function recovery following thoracic spinal cord injury in rats
- Analysis of scores of Symptom Checklist 90 (SCL-90) questionnaire of 182 parents of children with spinal muscular atrophy: a cross-sectional study
- The quality of life in children with spinal muscular atrophy: a case-control study
- Open-labelled study to monitor the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I: The SMAAF pilot study
- Newborn screening and gene therapy in SMA: Challenges related to vaccinations
- NSC Physiological Features in Spinal Muscular Atrophy: SMN Deficiency Effects on Neurogenesis
- Prospects for gene replacement therapies in amyotrophic lateral sclerosis
- Perceived Exertion is not a Substitute for Fatiguability in Spinal Muscular Atrophy
- ABT1 modifies SMARD1 pathology via interactions with IGHMBP2 and stimulation of ATPase and helicase activity
- ALS Regional Variants (Brachial Amyotrophic Diplegia and Amyotrophic Leg Diplegia): Still A Diagnostic Challenge in Neurology
- Thoracolumbar Sacral Orthosis for Spinal Fractures: What’s the Evidence and Do Patients Use Them?
- A severely affected adult type 2 spinal muscular atrophy patient treated with risdiplam
- A pediatric quantitative systems pharmacology model of neurofilament trafficking in spinal muscular atrophy treated with the antisense oligonucleotide nusinersen
- A comparative analysis of body composition assessment by BIA and DXA in children with type II and III spinal muscular atrophy
- Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany
- Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey
- Muscle impairment in MRI affect variability in treatment response to nusinersen in patients with spinal muscular atrophy type 2 and 3: A retrospective cohort study
- Assessment of health-related quality of life in patients with spina muscular atrophy in China
- Long term follow-up of scoliosis progression in type II SMA patients
- Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions
- Costs and Utilization of New-to-Market Neurologic Medications
- Changes in UK paediatric long-term ventilation practice over 10 years
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases
- Polysomnography findings in children with spinal muscular atrophy after onasemnogene-abeparvovec
- Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea
- Correction: Systematic review and meta-analysis determining the benefits of in vivo genetic therapy in spinal muscular atrophy rodent models
- Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab-ONYX
- Expanding the spectrum of TBK1-related disorders: Adult-onset non-5q spinal muscular atrophy
- PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
- Novel Three-Holed Titanium Plate Fixation during Open Door Laminoplasty for Cervical Spondylotic Myelopathy: Comparison with Conventional Titanium Plate
- p53-dependent c-Fos expression is a marker but not executor for motor neuron death in spinal muscular atrophy mouse models
- EQ-5D and SF-6D health utility scores in patients with spinal and bulbar muscular atrophy
- Population WGS-based spinal muscular atrophy carrier screening in a cohort of 1076 healthy Polish individuals
- A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl
- In FUS[1-359]-tg mice O,S-dibenzoyl thiamine reduces muscle atrophy, decreases glycogen synthase kinase 3 beta, and normalizes the metabolome
- Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis
- Clinically relevant mouse models of Charcot-Marie-Tooth Type 2S
- RNA-based drug discovery for Spinal Muscular Atrophy: a story of small molecules and antisense oligonucleotides
- Significant healthcare burden and life cost of spinal muscular atrophy: real-world data
- Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy
- Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 in Clinical Trials
- Calpain-mediated proteolysis as driver and modulator of polyglutamine toxicity
- Celastrol and Rhynchophylline in the mitigation of simulated muscle atrophy under in vitro
- Risdiplam for the Treatment of Adults with Spinal Muscular Atrophy: Experience of the Northern Ireland Neuromuscular Service
- Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia
- Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era
- Population-based assessment of nusinersen efficacy in children with spinal muscular atrophy: a 3-year follow-up study
- A randomised controlled trial of acceptance and commitment therapy plus usual care compared to usual care alone for improving psychological health in people with motor neuron disease (COMMEND): study protocol
- Kennedy’s disease presented with mastication fatigue combined with positive titin antibody: a case report
- Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series
- Clinical Trial to Assess the Safety and Efficacy of EXG001-307 in Patients With Spinal Muscular Atrophy Type 1
- SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members
- Late diagnosis of spinal muscular atrophy in a patient with Down syndrome
- Anesthetic and surgical management of tracheotomy in a patient with Kennedy’s Disease
- Risk factors for recurrent respiratory tract infections and acute respiratory failure in children with spinal muscular atrophy
- Genetic and Clinical Spectrum of GNE Myopathy in Russia
- Antisense Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology
- Robust Generation of Ready-to-Use Cryopreserved Motor Neurons from Human Pluripotent Stem Cells for Disease Modeling
- Switching therapies: safety profile of Onasemnogene abeparvovec-xioi in a SMA1 patient previously treated with Risdiplam
- A link between agrin signalling and Cav 3.2 at the neuromuscular junction in spinal muscular atrophy
- Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy
- Antibody-oligonucleotide conjugate achieves central nervous system delivery in animal models for spinal muscular atrophy
- Budget Impact Analysis of Nusinersen for Spinal Muscular Atrophy in China
- Spinal Muscular Atrophy: Family and Provider Perspectives
- Birth of spinal muscular atrophy unaffected baby from genetically at-risk parents following a pre-implantation genetic screening: A case report
- Biological networks and complexity in early-onset motor neuron diseases
- Characteristics of paraspinal muscle degeneration in degenerative diseases of the lumbar spine at different ages
- Value-Based Pricing for Patent-Protected Medicines Over the Product Life Cycle: Pricing Anomalies in the “Age of Cures” and Their Implications for Dynamic Efficiency
- Treatment of hereditary amyotrophic lateral sclerosis
- Long-term efficacy of nusinersen and its evaluation in adolescent and adult patients with spinal muscular atrophy types 1 and 2
- The reimbursement for expensive medicines: stakeholder perspectives on the SMA medicine nusinersen and the Dutch Coverage Lock policy
- Generation of FOUR iPSC lines (CRICKi004-A; CRICKi005-A; CRICKi006-A, CRICKi007-A) from Spinal muscle atrophy patients with lower extremity dominant (SMALED) phenotype
- Advances and limitations for the treatment of spinal muscular atrophy
- The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile
- Intravenous immunoglobulin prevents peripheral liver transduction of intrathecally delivered AAV vectors
- Bridging the Gap: Gene Therapy in a Spinal Muscular Atrophy Type 1 Patient
- Clinical follow-up analysis of multidisciplinary treatment of children with spinal muscular atrophy
- Measurement Issue in Antecollis
- New treatments in spinal muscular atrophy
- Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA
- Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative
- Gene Therapy for Neuromuscular Diseases: Health Economic Challenges and Future Perspectives
- The effects of nusinersen treatment on respiratory status of children with spinal muscular atrophy
- Microglia in motor neuron disease: Signaling evidence from last 10 years
- Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature
- Upper Extremity Examination for Neuromuscular Diseases (U-EXTEND): Protocol for a Multimodal Feasibility Study
- Evaluation of Mean Percentage of Full-Length SMN Transcripts as a Molecular Biomarker of Spinal Muscular Atrophy
- Clinical and Electrophysiological Changes in Pediatric Spinal Muscular Atrophy after 2 Years of Nusinersen Treatment
- The Outcomes of Robotic Rehabilitation Assisted Devices Following Spinal Cord Injury and the Prevention of Secondary Associated Complications
- Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy
- SMN Is Physiologically Downregulated at Wild-Type Motor Nerve Terminals but Aggregates Together with Neurofilaments in SMA Mouse Models
- CSF IL-8 Associated with Response to Gene Therapy in a Case Series of Spinal Muscular Atrophy
- Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect
- Emotional availability in mothers and their children with spinal muscular atrophy type 1 who require augmentative and alternative communication: a mixed-methods pilot study
- The difficult path to diagnosis of the patient with spinal muscular atrophy
- Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
- Access to orphan drugs for the treatment of spinal muscular atrophy in Spain
- Changes in the Incidence of Infantile Spinal Muscular Atrophy in Shikoku, Japan between 2011 and 2020
- Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
- The role of ubiquitination in spinal and bulbar muscular atrophy
- California’s experience with SMA newborn screening: A successful path to early intervention
- The ethics of crowdfunding in paediatric neurology
- Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France
- Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study
- Adeno-associated virus vector-based gene therapies for pediatric diseases
- Anaesthetic management of severe scoliosis correction in spinal muscular atrophy, severe restrictive lung disease and difficult airway
- Development of a functional composite for the evaluation of spinal and bulbar muscular atrophy
- A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy
- Corrigendum: The alteration of left ventricular strain in later-onset spinal muscular atrophy children
- Exploratory evaluation of an eye-tracking system in patients with advanced spinal muscular atrophy type I receiving nusinersen
- Early immunological responses to the mRNA SARS-CoV-2 vaccine in patients with neuromuscular disorders
- Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
- New results for risdiplam in spinal muscular atrophy
- 3D synchrotron imaging of muscle tissues at different atrophic stages in stroke and spinal cord injury: a proof-of-concept study
- Genetic distribution in Chinese patients with hereditary peripheral neuropathy
- How children and caregivers viewed the change from nusinersen to risdiplam for treating spinal muscular atrophy
- Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease
- Allocation of single-use drugs in children in global compassionate use programs
- Cerebrospinal fluid characteristics of patients treated with intrathecal nusinersen for spinal muscular atrophy
- Evaluation of cerebrospinal fluid biomarkers in pediatric patients with spinal muscular atrophy
- Position-dependent effects of hnRNP A1/A2 in SMN1/2 exon7 splicing
- Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy
- Mexiletine in spinal and bulbar muscular atrophy: a randomized controlled trial
- Retraction Note: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
- A Case of Hirayama Disease Presenting Horn Hand: Spinal Horn Hand
- Handgrip and finger flexion strength in children: A cross-sectional assessment of age-related normative data and application as a clinical functional marker in paediatric neuromuscular disorders
- Respiratory Characteristics in Children with Spinal Muscular Atrophy Type 1 Receiving Nusinersen
- Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program
- Using a robotic exoskeleton at home: An activity tolerance case study of a child with spinal muscular atrophy
- Clinical Features of Female Carriers and Prodromal Male Patients With Spinal and Bulbar Muscular Atrophy
- MRI correlates of motoneuron loss in SMA
- Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen
- Genetic studies in isolated bilateral clubfoot detected by prenatal ultrasound
- Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes
- Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy
- Long-term Follow-up Study of Patients Receiving Onasemnogene Abeparvovec-xioi
- Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows
- Mitochondrial Dysfunction in Spinal Muscular Atrophy
- The Role of Sphingomyelin and Ceramide in Motor Neuron Diseases
- Reliable virtual clinical assessment in spino-bulbar muscular atrophy (SBMA)
- Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy
- Onasemnogene abeparvovec in type 1 spinal muscular atrophy: A systematic review and meta-analysis
- Transcription and proteome changes involved in re-innervation muscle following nerve crush in rats
- SMN controls neuromuscular junction integrity through U7 snRNP
- Surgical treatment of spinal cord compression due to Hirayama disease: illustrative case
- Hip Pain in Nonambulatory Children with Type-I or II Spinal Muscular Atrophy
- New medicine for neuromuscular diseases: An evolving paradox for patient and family hopes and expectations
- A small molecule antagonist of SMN disrupts the interaction between SMN and RNAP II
- Risdiplam for spinal muscular atrophy
- Onasemnogene abeparvovec for spinal muscular atrophy
- Prenatal Somatic Cell Gene Therapies: Charting a Path Toward Clinical Applications (Proceedings of the CERSI-FDA Meeting)
- Serum leptin levels in children and adolescents with spinal muscular atrophy types 2 and 3✰
- Adult Spinal Muscular Atrophy
- Microvasculopathy in SMA is driven by a reversible autonomous endothelial cell defect
- Medical treatment of patients with hypertrophic cardiomyopathy: An overview of current and emerging therapy
- Mouse models of SMA show divergent patterns of neuronal vulnerability and resilience
- Acquisition and Automated Segmentation of Inertia Sensor Data for Mobile Camptocormia Assessment
- A method to identify, dissect and stain equine neuromuscular junctions for morphological analysis
- Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model
- Development of the Method for Nusinersen and Its Metabolites Identification in the Serum Samples of Children Treated with Spinraza for Spinal Muscular Atrophy
- The Proteome Signatures of Fibroblasts from Patients with Severe, Intermediate and Mild Spinal Muscular Atrophy Show Limited Overlap
- Single-cell RNA sequencing reveals dysregulation of spinal cord cell types in a severe spinal muscular atrophy mouse model
- Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype
- SAFETY AND TOLERABILITY OF STRENGTH TRAINING IN SPINAL AND BULBAR MUSCULAR ATROPHY: A CASE REPORT
- Normal Development and Pathology of Motoneurons: Anatomy, Electrophysiological Properties, Firing Patterns and Circuit Connectivity
- Motoneuron Diseases
- The alteration of left ventricular strain in later-onset spinal muscular atrophy children
- Comparison of trunk muscle exercises in supine position during short arm centrifugation with 1 g at centre of mass and upright in 1 g
- Spinal muscular atrophy carrier frequency in Saudi Arabia
- Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 – extending the phenotype
- Update on spinal muscular atrophy treatment
- Alterations in insulin-like growth factor system in spinal muscular atrophy
- Combination of modifying therapies in type 2 spinal muscular atrophy
- Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy
- Association between serum zinc level and lipid profiles in children with spinal muscular atrophy
- RESPIRATORY MUSCLE FATIGABILITY IN PATIENTS WITH SPINAL MUSCULAR ATROPHY
- Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy
- Expert consensus on rehabilitation management of the spinal muscular atrophy
- Patientenpartizipation in der pädiatrischen Versorgungsforschung am Universitätsklinikum Freiburg: von der Projektbeteiligung zum Patientenbeirat
- Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report
- Nociceptive pain in adult patients with 5q-spinal muscular atrophy type 3: a cross-sectional clinical study
- Real-world Adherence to Nusinersen in Adults with Spinal Muscular Atrophy in the US: A Multi-site Chart Review Study
- History of development of the life-saving drug “Nusinersen” in spinal muscular atrophy
- Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment
- Investigating Attitudes Towards Prenatal Diagnosis and Fetal Therapy for Spinal Muscular Atrophy (SMA)
- A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Of AJ201 In Patients
- Pharmacotherapy for Spinal Muscular Atrophy in Babies and Children: A Review of Approved and Experimental Therapies
- Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies
- Transcript-Targeted Therapy Based on RNA Interference and Antisense Oligonucleotides: Current Applications and Novel Molecular Targets
- Fingolimod Nanoemulsions at Different Particle Sizes Define the Fate of Spinal Cord Injury Recovery
- The phospho-landscape of the survival of motoneuron protein (SMN) protein: relevance for spinal muscular atrophy (SMA)
- A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review
- Identification of UBA1 as the causative gene of an X-linked non-Kennedy SBMA
- Suppression of the necroptotic cell death pathways improves survival in Smn 2B /- mice
- The effect of age on psoas and paraspinal muscle morphology in patients undergoing posterior lumbar fusion surgery
- Cost-effectiveness analysis of gene-based therapies for patients with spinal muscular atrophy type I in Australia
- Timing is everything: Clinical evidence supports pre-symptomatic treatment for spinal muscular atrophy
- Communicating the Spinal Muscular Atrophy diagnosis to children and the principle of autonomy
- Gene therapy in neuromuscular disorders
- Survival in patients diagnosed with SMA at less than 24 months of age in a population-based setting before, during and after introduction of nusinersen therapy. Experience from Sweden
- Surgical treatment of spinal deformities in spinal muscular atrophy: a single-center experience from China
- Treatment of spinal muscular atrophy patients among European countries: a call into action
- Hirayama Disease: Case Report
- The clinical characteristics of Hirayama disease in females
- Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in The Netherlands
- X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat
- Cone-beam computed tomography guided nusinersen administrations in adult spinal muscular atrophy patients with challenging access: a single- center experience
- Onasemnogene Abeparvovec: A Review in Spinal Muscular Atrophy
- Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
- Monomelic amyotrophy: a rare disease with unusual features (Hirayama disease)
- Plasma neurofilament light chain in Chinese children with later-onset spinal muscular atrophy
- Glial fibrillary acidic protein in cerebrospinal fluid of patients with spinal muscular atrophy
- Effect of Nusinersen treatment on motor functions in children and adolescents with spinal muscular atrophy who gave a break to physiotherapy during COVID-19 pandemic
- The 2022 Lady Estelle Wolfson Lectureship on Neurofilaments
- Opportunities for an early recognition of spinal muscular atrophy in primary care: a nationwide, population-based, study in Italy
- Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons
- Prevalence of Anti-AAV9 Antibodies in Adult Patients with Spinal Muscular Atrophy
- Newborn screening for spinal muscular atrophy in Japan: One year of experience
- Progress in spinal muscular atrophy research
- Validation of Neuromyotype: A smart keyboard for the evaluation of spinal muscular atrophy patients
- Artificial primary-miRNAs as a platform for simultaneous delivery of siRNA and antisense oligonucleotide for multimodal gene regulation
- Spinal muscular atrophy
- Spinal muscular atrophy
- Hemophagocytic lymphohistiocytosis following gene replacement therapy in a child with type 1 spinal muscular atrophy
- Allele-specific alternative splicing of Drosophila Ribosomal protein S21 suppresses a lethal mutation in the Phosphorylated adaptor for RNA export (Phax) gene
- Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center
- Neuromuscular denervation and deafferentation but not motor neuron death are disease features in the Smn2B/- mouse model of SMA
- Spinal muscular atrophy presenting with mild limb-girdle weakness in adulthood: Diagnostic pitfalls in the era of disease-modifying therapies
- Altered SYNJ2BP-mediated mitochondrial-ER contacts in motor neuron disease
- Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA
- Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
- Expanding the phenotypic variability of MORC2 gene mutations: from Charcot Marie tooth disease to late-onset pure motor neuropathy
- Clinical and Research Readiness for Spinal Muscular Atrophy: The Time Is Now for Knowledge Translation
- Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice
- Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations
- Alternative Splicing in Human Biology and Disease
- Internal Introns Promote Backsplicing to Generate Circular RNAs from Spinal Muscular Atrophy Gene
- Targeted-Deletion of a Tiny Sequence via Prime Editing to Restore SMN Expression
- Coaxial Synthesis of PEI-Based Nanocarriers of Encapsulated RNA-Therapeutics to Specifically Target Muscle Cells
- Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
- In Vitro Toxicity of Chinese Russell’s Viper (Daboia siamensis ) Venom and Neutralisation by Antivenoms
- Accuracy of muscle fasciculations for the diagnosis of later-onset spinal muscle atrophy
- Motor defects in a Drosophila model for spinal muscular atrophy result from SMN depletion during early neurogenesis
- Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts’ study
- The Effect of Nusinersen Therapy on Laboratory Parameters of Patients with Spinal Muscular Atrophy
- Clinical-functional characterization of patients with spinal muscular atrophy in Central-Western Colombia
- Ligand-free mitochondria-localized mutant AR-induced cytotoxicity in spinal bulbar muscular atrophy
- Moxifloxacin rescues SMA phenotypes in patient-derived cells and animal model
- Biomarkers of therapeutic efficacy in adolescents and adults with 5q spinal muscular atrophy: a systematic review
- Editorial: Lessons Learned from Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation
- Application of multiplex competitive PCR combined with capillary electrophoresis in carrier screening of spinal muscular atrophy
- Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy
- Allan-Herndon-Dudley syndrome: a diagnosis to rule out in any male infant with undiagnosed hypotonia
- Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
- Effects of ATLAS 2030 gait exoskeleton on strength and range of motion in children with spinal muscular atrophy II: a case series
- Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs
- Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children
- SMN Enhances Pluripotent Genes Expression and Facilitates Cell Reprogramming
- Structural Context of a Critical Exon of Spinal Muscular Atrophy Gene
- Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
- Early treatment is a lifeline for infants with SMA
- Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene
- Risdiplam in Types 2 and 3 spinal muscular atrophy: a randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment
- Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years
- Post-dural puncture headache: a prospective study on incidence, risk factors, and clinical characterization of 285 consecutive procedures
- Muscle quantitative MRI in adult SMA patients on nusinersen treatment: a longitudinal study
- It’s time to measure disability in spinal muscular atrophy
- Peripheral circulation disturbances in two consecutive children with spinal muscular atrophy and literature review
- Biochemical and clinical biomarkers in adult SMA 3-4 patients treated with nusinersen for 22 months
- Mid1 is associated with androgen-dependent axonal vulnerability of motor neurons in spinal and bulbar muscular atrophy
- The Combined Efficacy of a Two-Year Period of Cybernic Treatment With a Wearable Cyborg Hybrid-Assistive Limb and Leuprorelin Therapy in a Patient With Spinal and Bulbar Muscular Atrophy: A Case Report
- Skeletal Muscle Pathogenesis in Polyglutamine Diseases
- Editorial Comment to Castration-resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy
- Castration-resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy
- 264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021
- Intrinsically disordered proteins and proteins with intrinsically disordered regions in neurodegenerative diseases
- Improving efficacy of ASO therapy in SMA
- Neuromuscular junction pathology is correlated with differential motor unit vulnerability in spinal and bulbar muscular atrophy
- Real-world safety and effectiveness of nusinersen, a treatment for spinal muscular atrophy, in 401 Japanese patients: results from an interim analysis of post-marketing surveillance
- R-loop Mediated DNA Damage and Impaired DNA Repair in Spinal Muscular Atrophy
- Analysis of a pedigree with distal hereditary motor neuropathy type 2A caused by mutation in HSPB8 gene
- Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report
- Spinal Muscular Atrophy Type 1: Fetal Diagnosis, Prenatal Coordination, and Postnatal Management in the Era of Novel Therapies
- Clinical follow-up analysis of nusinersen in the disease-modifying treatment of pediatric spinal muscular atrophy
- Engineered U1 snRNAs to modulate alternatively spliced exons
- Amifampridine safety and efficacy in spinal muscular atrophy ambulatory patients: a randomized, placebo-controlled, crossover phase 2 trial
- Application of modern approaches in the screening and early diagnosis programs for the orphan diseases
- The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever
- Molecular Pathogenesis and New Therapeutic Dimensions for Spinal Muscular Atrophy
- Reply to Aljabali et al. Comment on “Abbas et al. The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials. Medicina 2022, 58 , 213”
- Comprehensive In Silico Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy
- Physical Therapy and Nusinersen Impact on Spinal Muscular Atrophy Rehabilitative Outcome
- Comment on Abbas et al. The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials. Medicina 2022, 58 , 213
- Safety, tolerability, and efficacy of a widely available nusinersen program for Polish children with Spinal Muscular Atrophy
- Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence
- Juvenile muscular atrophy of the distal upper extremity (Hirayama syndrome): a systematic review
- Inhibition of myostatin and related signaling pathways for the treatment of muscle atrophy in motor neuron diseases
- Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy
- Shenkang injection protects against renal fibrosis by reducing perforin expression through the STING/TBK1/IRF3 signaling pathways in natural killer cells
- Combinatorial ASO-mediated therapy with low dose SMN and the protective modifier Chp1 is not sufficient to ameliorate SMA pathology hallmarks
- Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies
- Major advances in neuromuscular disorders in the past two decades
- Children with spinal muscular atrophy have reduced vertebral body height, depth and pedicle size in comparison to age-matched healthy controls
- Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
- Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
- Label-free morphological sub-population cytometry for sensitive phenotypic screening of heterogenous neural disease model cells
- Real-World Data on Access to Standards of Care for People With Spinal Muscular Atrophy in the UK
- X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey
- Expanded newborn bloodspot screening: developed country examples and what can be done in Turkey
- Cognitive profiles and clinical factors in type III spinal muscular atrophy: A preliminary study
- The cost-effectiveness of newborn screening for spinal muscular atrophy
- Systemic DNA/RNA heteroduplex oligonucleotide administration for regulating the gene expression of dorsal root ganglion and sciatic nerve
- Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy
- Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
- Modulation of DNA transcription: The future of ASO therapeutics?
- Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy
- Nusinersen treatment response markers
- Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening
- Effects of inhibitors of SLC9A-type sodium-protein exchangers on Survival Motor Neuron 2 (SMN2 ) mRNA splicing and expression
- The effect of scoliosis surgery on pulmonary function in spinal muscular atrophy patients: review of the literature and a meta-analysis
- C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA)
- Risk factors of tracheal extubation failure in children with spinal muscular atrophy combined with pneumonia
- Multiple breath washout lung function reveals ventilation inhomogeneity unresponsive to mechanical assisted cough in patients with neuromuscular disease
- Comprehensive analysis of spinal muscular atrophy (CASMA): SMN1 copy number, intragenic mutation and 2 + 0 carrier analysis by third-generation sequencing
- Mild androgen insensitivity syndrome: the current landscape
- Therapeutic Decision-Making Under Uncertainty in the Management of Spinal Muscular Atrophy: Results From DECISIONS-SMA Study
- Commentary: Current Status of Gene Therapy for Spinal Muscular Atrophy
- DNAJB2 c.184C>T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy
- A spectrum of recessiveness among Mendelian disease variants in UK Biobank
- Impaired dynamic interaction of axonal endoplasmic reticulum and ribosomes contributes to defective stimulus-response in spinal muscular atrophy
- Simultaneous quantification of SMN1 and SMN2 copy numbers by MALDI-TOF mass spectrometry for spinal muscular atrophy genetic testing
- Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease – Case series and review
- The Cure SMA Clinical Trial Experience Survey: A Study of Trial Participant Perspectives on Clinical Trial Management and Patient-Centric Management Practices
- Nusinersen for Patients With Spinal Muscular Atrophy: 1415 Doses via an Interdisciplinary Institutional Approach
- Characteristics spinal and bulbar muscular atrophy in South Korea: a cross-sectional study of 157 patients
- A Chemical Biology Perspective to Therapeutic Regulation of RNA Splicing in Spinal Muscular Atrophy (SMA)
- Cas14a1-Mediated Nucleic Acid Diagnostics for Spinal Muscular Atrophy
- Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene
- The Advent of Omics Sciences in Clinical Trials of Motor Neuron Diseases
- The influence of tone on proximal femoral and acetabular geometry in neuromuscular hip displacement: A comparison of cerebral palsy and spinal muscular atrophy
- Novel Use of Nusinersen as a Therapeutic Bridge to Onasemnogene Abeparvovec-xioi in a Premature Neonate with Type 1 Spinal Muscular Atrophy
- Assessing Perspectives of Disease Burden and Clinically Meaningful Changes Using the Spinal Muscular Atrophy Health Index in Adolescents and Young Adults
- SS-31 does not prevent or reduce muscle atrophy 7 days after a 65 kdyne contusion spinal cord injury in young male mice
- Curing SMA: Are we there yet?
- Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing
- Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants
- Clinical Utility of Repetitive Nerve Stimulation Test in Differentiating Multifocal Motor Neuropathy From Progressive Muscular Atrophy
- Phase IIIb, Open-label, Multi-center Study to Evaluate Safety, Tolerability and Efficacy of OAV101 Administered Intrathecally to Participants With SMA Who Discontinued Treatment With Nusinersen or Risdiplam
- A Comparative Study of a New Retractor-Assisted WILTSE TLIF, MIS-TLIF, and Traditional PLIF for Treatment of Single-Level Lumbar Degenerative Diseases
- DYNC1H1 de novo mutation, spinal muscular atrophy and attention problems
- Onasemnogene abeparvovec gene replacement therapy for the treatment of spinal muscular atrophy: a real-world observational study
- Safety of Onasemnogene Abeparvovec for Patients With Spinal Muscular Atrophy 8.5 kg or Heavier in a Global Managed Access Program
- Bap1/SMN axis in Dpp4+ skeletal muscle mesenchymal cells regulates the neuromuscular system
- Effect of lumbar muscle atrophy on the mechanical loading change on lumbar intervertebral discs
- Response of plasma microRNAs to nusinersen treatment in patients with SMA
- Fatal Thrombotic Microangiopathy Case following Adeno-Associated Viral SMN Gene Therapy
- Association of Brain Atrophy With Disease Progression Independent of Relapse Activity in Patients With Relapsing Multiple Sclerosis
- A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients’ and caregivers’ perspectives
- Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients
- Stress granules in the spinal muscular atrophy and amyotrophic lateral sclerosis: The correlation and promising therapy
- An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy
- Advanced Gene-Targeting Therapies for Motor Neuron Diseases and Muscular Dystrophies
- Scientific rationale for a higher dose of nusinersen
- Identification and Characterization TSSK6 Activating Co-chaperone (TSACC) in Skeletal Muscle
- Dysregulation of Skeletal Muscle Mitochondrial Turnover and Dynamics Occurs During Late Symptomatic Stages of Spinal Muscular Atrophy
- Motor Unit Recovery Following Smn Restoration in Mouse Models of Spinal Muscular Atrophy
- Expression profiles of protein markers regulating the mitochondrial lifecycle in skeletal muscle of acute spinal cord transected rats
- Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report
- NOVA1 promotes SMN2 exon 7 splicing by binding the UCAC motif and increases SMN protein expression
- Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data
- The Global Burden of Motor Neuron Disease: An Analysis of the 2019 Global Burden of Disease Study
- Longer-term follow-up of nusinersen efficacy and safety in adult patients with spinal muscular atrophy types 2 and 3
- Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant
- Respiratory outcome of spinal muscular atrophy type 1 patients treated with nusinersen
- Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening
- AR cooperates with SMAD4 to maintain skeletal muscle homeostasis
- Gene-based treatment in spinal muscular atrophy
- François-Amilcar Aran (1817-1861) and the recognition of spinal muscular atrophy
- Predictive models in SMA II natural history trajectories using machine learning: A proof of concept study
- Exploring Motor Neuron Diseases Using iPSC Platforms
- Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients
- Fluid and White Matter Suppression: New Sensitive 3 T Magnetic Resonance Imaging Contrasts for Cortical Lesion Detection in Multiple Sclerosis
- Culture of Human iPSC-Derived Motoneurons in Compartmentalized Microfluidic Devices and Quantitative Assays for Studying Axonal Phenotypes
- Correction to: Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls
- Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases
- Adeno-associated virus serotype 9 antibody titers in patients with SMA pre-screened for treatment with onasemnogene abeparvovec -routine care evidence
- Finger trembling improvement after surgery in Hirayama disease: a case report
- Motor Unit and Capillary Recruitment During Fatiguing Arm-Cycling Exercise in Spinal Muscular Atrophy Types 3 and 4
- Stability of Serial Platelet and Urine Protein Measurements in Patients Receiving Nusinersen for Spinal Muscular Atrophy
- Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy
- Acute Benign Myositis Following Onasemnogene Abeparvovec Therapy in Type 1 Spinal Muscular Atrophy
- High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts
- Inflammation and Oxidative Stress as Common Mechanisms of Pulmonary, Autonomic and Musculoskeletal Dysfunction after Spinal Cord Injury
- ‘This battle, between your gut feeling and your mind. Try to find the right balance’: Parental experiences of children with spinal muscular atrophy during COVID-19 pandemic
- A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy
- Short-term effect of air stacking and mechanical insufflation-exsufflation on lung function in patients with neuromuscular diseases
- SMN-deficient cells exhibit increased ribosomal DNA damage
- Onasemnogene abeparvovec for the treatment of spinal muscular atrophy
- Spinal Muscular Atrophy -Is Newborn Screening Too Late for Children with Two SMN2 Copies?
- Pre-symptomatic spinal muscular atrophy: a proposed nosology
- Spinal muscular atrophy: Surviving respiratory failure, intensive care and pursuing creatively fulfilled life
- A combinatorial approach increases SMN level in SMA model mice
- Small nerves are a distinguishing feature of spinal and bulbar muscular atrophy (SBMA)
- Copy number assessment of SMN1 based on real-time PCR with high-resolution melting: fast and highly reliable testing
- Acoustic Change Over Time in Spastic and/or Flaccid Dysarthria in Motor Neuron Diseases
- Antisense Oligonucleotide Induction of the hnRNPA1b Isoform Affects Pre-mRNA Splicing of SMN2 in SMA Type I Fibroblasts
- SMN loss dysregulates microtubule-associated proteins in spinal muscular atrophy model
- Multivalent DNA and nucleosome acidic patch interactions specify VRK1 mitotic localization and activity
- Distribution of Weight, Stature and Growth Status in Children and Adolescents with Spinal Muscular Atrophy: An Observational Retrospective Study in the United States
- Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
- Health-related quality of life in Thai children with spinal muscular atrophy
- Postural abnormalities in Asian and Caucasian Parkinson’s disease patients: A multicenter study
- Survival motor neuron protein deficiency alters microglia reactivity
- Protein Network Analysis Reveals a Functional Connectivity of Dysregulated Processes in ALS and SMA
- Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)
- Psychosocial impact of the COVID-19 pandemic and shielding in adults and children with early-onset neuromuscular and neurological disorders and their families: a mixed-methods study
- Treatment of Adult Spinal Muscular Atrophy: Overview and Recent Developments
- Child Neurology: Pathologically Confirmed Thrombotic Microangiopathy Caused by Onasemnogene Abeparvovec Treatment for Spinal Muscular Atrophy
- Public participation: healthcare rationing in the newspaper media
- Spinal Muscular Atrophy Therapeutics in India: Parental Hopes and Despair!
- Epaxial muscle atrophy is more evident in large dogs with intervertebral disc disease than in dogs with ischaemic myelopathy
- Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss-of-function ASCC1 gene mutation in two Bulgarian Roma patients
- Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland
- Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome
- Activating ATF6 in Spinal Muscular Atrophy promotes SMN expression and motor neuron survival through the IRE1alpha-XBP1 pathway
- The 4-copy conundrum in the treatment of infants with spinal muscular atrophy
- Stathmins and Motor Neuron Diseases: Pathophysiology and Therapeutic Targets
- Single-Dose Intrathecal Dorsal Root Ganglia Toxicity of Onasemnogene Abeparvovec in Cynomolgus Monkeys
- A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans
- Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes
- Reply to: The 4-copy conundrum in the treatment of infants with spinal muscular atrophy
- Transforaminal lumbar puncture for spinal anesthesia or novel drug administration: a technique combining C-arm fluoroscopy and ultrasound
- Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy
- Risdiplam: an investigational motor neuron-2 (SMN-2) splicing modifier for spinal muscular atrophy (SMA)
- Fatigue and activity-dependent conduction block in neuromuscular disorders
- Disruption of Smn in glia impacts survival but has no effect on neuromuscular function in Drosophila
- Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese
- Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy
- Respiratory management of Spinal Muscular Atrophy type 1 patients treated with Nusinersen
- Spinal muscular atrophy and the world’s most expensive medicines: The price of life
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- Characteristics and feasibility of ambulatory respiratory assessment of paediatric neuromuscular disease: an observational retrospective study
- Reflex single-gene non-invasive prenatal testing is associated with markedly better detection of fetuses affected with single-gene recessive disorders at lower cost
- The clinical utility of a risk-modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity
- Antisense therapies in neurological diseases
- Risdiplam: A Review in Spinal Muscular Atrophy
- Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial
- ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature
- Affection of Respiratory Muscles in ALS and SMA
- Zinc finger protein ZPR1: promising survival motor neuron protein-dependent modifier for the rescue of spinal muscular atrophy
- Antisense Oligonucleotide Therapy: From Design to the Huntington Disease Clinic
- Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy
- Premature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay
- Quantitative and Morphological Assessment of Computed Tomography-depicted Gynecomastia in Spinal and Bulbar Muscular Atrophy
- An orally available, brain penetrant, small molecule lowers huntingtin levels by enhancing pseudoexon inclusion
- Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus)
- Ultrasonographic evaluation reveals thinning of cervical nerve roots and peripheral nerves in spinal and bulbar muscular atrophy
- Neurological symptoms and disorders following electrical injury: A register-based matched cohort study
- Novel roles of phentolamine in protecting axon myelination, muscle atrophy, and functional recovery following nerve injury
- SMA type 2 and 3 improvements over 2 years
- General Anesthesia With Successful Immediate Post-operative Extubation for Sarcoma Excision in a 61-Year-Old Male With Kennedy’s Disease
- New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study
- Ethical aspects of the changing landscape for spinal muscular atrophy management in Australia
- Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA
- Management of Spinal Muscular Atrophy in the Adult Population
- Correction to: Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)
- A Case Report of Systemic Intoxication Following Onabotulinum Toxin A Injections Into the Salivary Glands in a Patient With Spinal Muscular Atrophy Type 1
- Inhibition of Polyglutamine Misfolding with D-Enantiomeric Peptides Identified by Mirror Image Phage Display Selection
- Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
- A Comprehensive Review of Neuromuscular Manifestations of COVID-19 and Management of Pre-Existing Neuromuscular Disorders in Children
- The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials
- Recent research on the treatment of spinal muscular atrophy
- Correction to: Dramatic Innovations in the Treatment of Spinal Muscular Atrophy, But Many Unknowns Remain
- Parents’ Perspectives on Diagnosis and Decision-Making regarding Ventilator Support in Children with SMA Type 1
- Interfering RNA and antisense oligonucleotide treatments currently available in France: an update
- Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy
- Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort study
- Access to Innovative Neurological Drugs in Europe: Alignment of Health Technology Assessments Among Three European Countries
- Body of Evidence for Onasemnogene Abeparvovec in Spinal Muscular Atrophy Supports Long-Term Duration of Effect Without Relapse
- Spinal Muscular Atrophy Type IIIb Complicated by Moyamoya Syndrome: A Case Report and Literature Review
- Nusinersen in Adults with 5q Spinal Muscular Atrophy: a Systematic Review and Meta-analysis
- How to reconstruct the lordosis of cervical spine in patients with Hirayama disease? A finite element analysis of biomechanical changes focusing on adjacent segments after anterior cervical discectomy and fusion
- Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy
- Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy
- Therapeutic decisions under uncertainty for spinal muscular atrophy: The DECISIONS-SMA study protocol
- Restoring SMN Expression: An Overview of the Therapeutic Developments for the Treatment of Spinal Muscular Atrophy
- A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy
- Induction of Survival of Motor Neuron (SMN) Protein Deficiency in Spinal Astrocytes by Small Interfering RNA as an In Vitro Model of Spinal Muscular Atrophy
- Hip Pain in Patients With Spinal Muscular Atrophy: Prevalence, Intensity, Interference, and Factors Associated With Moderate to Severe Pain
- Newborn infant screening for spinal muscular atrophy: Chances and challenges
- Reverse split hand syndrome and distinctive spine imaging features in Hirayama disease
- Ultrasound-guided transforaminal approach for nusinersen delivery in adult spinal muscle atrophy patients with challenging access
- A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland
- Spinal muscular atrophy type 2 patient who survived 61 years: an autopsy case report
- Assessment of Health-Related Quality of Life in Adult Spinal Muscular Atrophy Under Nusinersen Treatment-A Pilot Study
- Single-Tube Multiplex Digital Polymerase Chain Reaction Assay for Molecular Diagnosis and Prediction of Severity of Spinal Muscular Atrophy
- Oral hygiene in patients with motor neuron disease: a cross-sectional survey
- J wave syndromes in patients with spinal and bulbar muscular atrophy
- Assessing the Value of Nusinersen for Spinal Muscular Atrophy: A Comparative Analysis of Reimbursement Submission and Appraisal in European Countries
- A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4)
- Patients’ access to rare neuromuscular disease therapies varies across US private insurers
- Newborn screening for spinal muscular atrophy: The Wisconsin first year experience
- Biomarkers of disease progression in adolescents and adults with 5q spinal muscular atrophy: a systematic review and meta-analysis
- A Patient-Centered Evaluation of Meaningful Change on the 32-Item Motor Function Measure in Spinal Muscular Atrophy Using Qualitative and Quantitative Data
- Gene Therapy for Rare Neurological Disorders
- Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen
- Is treatment with oral risdiplam effective and well-tolerated for infants with spinal muscular atrophy type 1?
- The changing therapeutic landscape of spinal muscular atrophy
- An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families
- Nerve ultrasound detects abnormally small nerves in patients with Spinal and Bulbar Muscular Atrophy
- Viral mediated knockdown of GATA6 in SMA iPSC-derived astrocytes prevents motor neuron loss and microglial activation
- Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA
- Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy
- Computed Tomography-Guided Lumbar Puncture: Advantages and Disadvantages
- Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model
- Expert consensus on preimplantation genetic testing for spinal muscular atrophy
- Targeting Alternative Splicing as Adjunctive Treatment in EML4-ALK v3a/b+ NSCLC: Knowing Our Socratic Paradox and Learning From Spinal Muscular Atrophy
- Evaluation of vestibular-evoked myogenic potential for functional integrity of the brain stem in Kennedy’s disease
- Protocol-driven early tracheal extubation in patients with flaccid neuromuscular scoliosis and pre-existing lung disease
- Natural history of 10-meter walk/run test performance in spinal muscular atrophy: A longitudinal analysis
- Nucleic Acid-Based Therapeutic Approach for Spinal and Bulbar Muscular Atrophy and Related Neurological Disorders
- Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients
- Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study
- Multi-modal MR imaging of the upper arm muscles of patients with Spinal Muscular Atrophy
- Body mass index in type 2 spinal muscular atrophy: a longitudinal study
- Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
- Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4
- How does risdiplam compare with other treatments for Types 1-3 spinal muscular atrophy: a systematic literature review and indirect treatment comparison
- Spinal muscular atrophy
- Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era
- Managing pregnancy in a spinal muscular atrophy type III patient in Indonesia: a case report
- Short-term clinical outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy
- Muscle “islands”: An MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness
- Optimization of Long-Term Human iPSC-Derived Spinal Motor Neuron Culture Using a Dendritic Polyglycerol Amine-Based Substrate
- Vitamin K Deficiency in the Setting of Blenderized Tube Feeding Regimen in a Teenager: A Case Report
- The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia
- The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs
- Case report of pregnancy management and genetic evaluation after negative carrier screening for spinal muscular atrophy in an affected family
- Nusinersen treatment in adults with severe spinal muscular atrophy: A real-life retrospective observational cohort study
- Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene
- Application Value of the Motor Unit Number Index in Patients With Kennedy Disease
- Advances in research on biomarkers for spinal muscular atrophy
- Potential Applications for Targeted Gene Therapy to Protect Against Anthracycline Cardiotoxicity: JACC: CardioOncology Primer
- Spinal Muscular Atrophy Patient iPSC-Derived Motor Neurons Display Altered Proteomes at Early Stages of Differentiation
- Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders
- Pharmacological and clinical profile of Onasemnogene Aveparvovec, the first gene therapy for spinal muscular atrophy (SMA)
- Ethical Perspectives on Treatment Options with Spinal Muscular Atrophy Patients
- Early diagnosis of spinal muscular atrophy
- Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes
- Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen
- Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome
- Genetic architecture of motor neuron diseases
- Family, healthcare professional, and societal preferences for the treatment of infantile spinal muscular atrophy: a discrete choice experiment
- Correction to: Nusinersen: A Review in 5q Spinal Muscular Atrophy
- Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy
- Intrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity
- Coverage of genetic therapies for spinal muscular atrophy across fee-for-service Medicaid programs
- Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
- Mortality in Neuromuscular Early Onset Scoliosis Following Spinal Deformity Surgery
- Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls
- Dramatic Innovations in the Treatment of Spinal Muscular Atrophy, But Many Unknowns Remain
- Increased use of genetic health care in Iceland 2012-2017
- Sleep breathing disorders in pediatric patients with spinal muscular atrophy 2
- Non-Respiratory Complications of Nusinersen-Treated Spinal Muscular Atrophy Type 1
- Assessment of cerebral spinal fluid biomarkers and microRNA-mediated disease mechanisms in spinal muscular atrophy patient samples
- Protein network analysis to prioritize key genes in amyotrophic lateral sclerosis
- Systematic Literature Review to Identify Utility Values in Patients with Spinal Muscular Atrophy (SMA) and Their Caregivers
- Epidemiology, healthcare resource utilization and healthcare costs for spinal muscular atrophy in Alberta, Canada
- Phase 3 Active Treatment Trial to Evaluate the Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Who Are Being Treated With Nusinersen or Risdiplam
- KLF15 overexpression in myocytes fails to ameliorate ALS-related pathology or extend the lifespan of SOD1G93A mice
- Development of the SMA independence scale-upper limb module (SMAIS-ULM): A novel scale for individuals with Type 2 and non-ambulant Type 3 SMA
- [CASE REPORT] Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: a case report
- Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
- Patient and Caregiver Treatment Preferences in Type 2 and Non-ambulatory Type 3 Spinal Muscular Atrophy: A Discrete Choice Experiment Survey in Five European Countries
- Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease
- Peripherally delivered Adeno-associated viral vectors for spinal cord injury repair
- Splicing efficiency of minor introns in a mouse model of SMA predominantly depends on their branchpoint sequence and can involve the contribution of major spliceosome components
- Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model
- Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I
- Intellectual skills and speech abilities in children with SMA type 1
- The SMA France national registry: already encouraging results
- Fusionless spine instrumentations in neuromuscular scoliosis
- Identification of specific gene methylation patterns during motor neuron differentiation from spinal muscular atrophy patient-derived iPSC
- Anaesthetic considerations in posterior instrumentation of scoliosis due to spinal muscular atrophy: Case series of 56 operated patients
- A case series of paediatric patients with spinal muscular atrophy type I undergoing scoliosis correction surgery
- The economic impact of compassionate use of medicines
- Implications of circulating neurofilamentsfor spinal muscular atrophytreatment early in life: A case series
- Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric spinal muscular atrophy patients
- 7′,5′-alpha-bicyclo-DNA: new chemistry for oligonucleotide exon splicing modulation therapy
- Nusinersen: A Review in 5q Spinal Muscular Atrophy
- Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay
- Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme
- Improvement in Fine Manual Dexterity in Children with Spinal Muscular Atrophy Type 2 after Nusinersen Injection: A Case Series
- Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulism
- Central synaptopathy is the most conserved feature of motor circuit pathology across spinal muscular atrophy mouse models
- An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
- A tale of two diseases: spinal muscular atrophy and Pompe disease
- Use of prescriber requirements among US commercial health plans
- Real-world safety of nusinersen in Japan: results from an interim analysis of a post-marketing surveillance and safety database
- Cell Penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model
- Premature delivery in the domestic sow in response to in utero delivery of AAV9 to fetal piglets
- De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms
- Spinal Muscular Atrophy with Respiratory Distress
Type 1: A Novel Variant of IGHMBP2 Gene - A novel CARM1-HuR axis involved in muscle differentiation and plasticity misregulated in spinal muscular atrophy
- Magnetic resonance reveals mitochondrial dysfunction and muscle remodelling in spinal muscular atrophy
- Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report
- Models for IGHMBP2-associated diseases: an overview and a roadmap for the future
- Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen
- Neurofilament Levels in CSF and Serum in an Adult SMA Cohort Treated with Nusinersen
- Wheelchair Hockey improves neuromuscular patients’ well-being
- Evaluating Efficacy of Peptide-Delivered Oligonucleotides Using the Severe Taiwanese SMA Mouse Model
- Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management
- A Study to Investigate the Safety and Efficacy of RO7204239 in Combination With Risdiplam (RO7034067) in Ambulatory Children With Spinal Muscular Atrophy
- Indoprofen exerts a potent therapeutic effect against sepsis by alleviating high mobility group box 1-mediated inflammatory responses
- Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study
- Structurally Mapping Antigenic Epitopes of Adeno-Associated Virus 9: Development of Antibody Escape Variants
- Parent Perceptions in Choosing Treatment for Infants With Spinal Muscular Atrophy Diagnosed Through Newborn Screening
- Mechanisms and Treatments in Demyelinating CMT
- Wearable Robots: An Original Mechatronic Design of a Hand Exoskeleton for Assistive and Rehabilitative Purposes
- The Antisense Oligonucleotide Nusinersen for Treatment of Spinal Muscular Atrophy
- Risdiplam for the Use of Spinal Muscular Atrophy
- Neurogenic arthrogryposis and the power of phenotyping
- Spinal muscular atrophy: from rags to riches
- Organotypic spinal cord cultures: An in vitro 3D model to preliminary screen treatments for spinal muscular atrophy
- Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study
- Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship between Strength and Performance of Forward Lunge, Step Up and Over, and Step Quick Turn
- The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects
- Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy
- Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis
- Natural history of spinal muscular atrophy in children: an analysis of 117 cases
- Camptocormia as the main manifestation of a mutation in the POLG gene
- Nusinersen for Spinal Muscular Atrophy in the United States: Findings From a Retrospective Claims Database Analysis
- Treatment with L-Citrulline in patients with post-polio syndrome: A single center, randomized, double blind, placebo-controlled trial
- Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review
- Real-time MR tracking of AAV gene therapy with βgal-responsive MR probe in a murine model of GM1-gangliosidosis
- Genetic screening techniques and diseases for neonatal genetic diseases
- Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord
- A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M ) in Als Patients with Pure Lower Motor Neuron Presentation
- Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots
- Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents
- A Machine-Learning Method of Predicting Vital Capacity Plateau Value for Ventilatory Pump Failure Based on Data Mining
- Methodological challenges in measuring meaningful change in individuals with spinal muscular atrophy
- Efficacy and Safety of Intrathecal OAV101 (AVXS-101) in Pediatric Patients With Type 2 Spinal Muscular Atrophy (SMA)
- Enhanced pro-BDNF-p75NTR pathway activity in denervated skeletal muscle
- Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseases
- Generation of DMBi002-A human induced pluripotent stem cell line from patient with Spinal muscular atrophy type 3
- (1)H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
- Spinal muscular atrophy: epidemiology and health burden in children – a Polish national healthcare database perspective before introduction of SMA-specific treatment
- Capsid-Engineering for Central Nervous System-Directed Gene Therapy with Adeno-Associated Virus Vectors
- Preferences and Utilities for Treatment Attributes in Type 2 and Non-ambulatory Type 3 Spinal Muscular Atrophy in the United Kingdom
- Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)
- Continuous noninvasive ventilatory support outcomes for patients with neuromuscular disease: a multicenter data collaboration
- Gene Therapy Approach with an Emphasis on Growth Factors: Theoretical and Clinical Outcomes in Neurodegenerative Diseases
- Newborn screening program for spinal muscular atrophy
- Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis
- Targeting the RNA-Binding Protein HuR as Potential Thera-Peutic Approach for Neurological Disorders: Focus on Amyo-Trophic Lateral Sclerosis (ALS), Spinal Muscle Atrophy (SMA) and Multiple Sclerosis
- Antisense oligonucleotides: absorption, distribution, metabolism, and excretion
- Gene Replacement Therapy for Spinal Muscular Atrophy Unmasking Occult Hepatitis C in a Pediatric Patient
- Regulation of Survival Motor Neuron Gene Expression by Calcium Signaling
- Intravenous Tranexamic Acid Reduces Blood Loss and Transfusion Volume in Scoliosis Surgery for Spinal Muscular Atrophy: Results of a 20-Year Retrospective Analysis
- Hybrid versus total sublaminar wires in patients with spinal muscular atrophy undergoing scoliosis surgery
- Hirayama Disease in a Patient with a History of Late-Onset Symptomatic Vein of Galen Aneurysmal Malformation
- Hyper-SUMOylation of SMN induced by SENP2 deficiency decreases its stability and leads to spinal muscular atrophy-like pathology
- Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium
- Addressing today’s ADME challenges in the translation of in vitro absorption, distribution, metabolism and excretion characteristics to human: A case study of the SMN2 mRNA splicing modifier risdiplam
- Effect of the COVID-19 Pandemic on Children With SMA Receiving Nusinersen: What Is Missed and What Is Gained?
- Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year
- Newborn screening of neuromuscular diseases
- Systematic review and meta-analysis determining the benefits of in vivo genetic therapy in spinal muscular atrophy rodent models
- A Study to Evaluate Higher Dose (HD) Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Previously Treated With Risdiplam
- Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue
- Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy
- Electrodiagnostic Assessment of Motor Neuron Disease
- A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
- Motor Neuron Diseases and Neuroprotective Peptides: A Closer Look to Neurons
- Interactive effect of sarcopenia and falls on vertebral osteoporotic fracture in patients with rheumatoid arthritis
- Polyminimyoclonus in Hirayama disease
- Cognitive Impairment in Adult Patients with 5q-Associated Spinal Muscular Atrophy
- Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen
- Alternative Splicing Role in New Therapies of Spinal Muscular Atrophy
- CSF Diagnostics: A Potentially Valuable Tool in Neurodegenerative and Inflammatory Disorders Involving Motor Neurons: A Review
- Generation of Human Motor Units with Functional Neuromuscular Junctions in Microfluidic Devices
- Louis Duménil (1823-1890), surgeon and pioneer in neurology
- What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions
- Spinal Muscular Atrophy: A Potential Target for in Utero Therapy
- Neuromuscular Diseases Affect Number Representation and Processing: An Exploratory Study
- Defining the optimal dose and therapeutic window in SMA with respiratory distress type I model mice, FVB/NJ-Ighmpb2 nmd-2J