Frontlight ResearchEarly access
What researchers published on Spinal muscular atrophy
529 papers, newest first.
Showing 80 of 529
Detection of Silent Carriers of Spinal Muscular Atrophy: A Survey of Clinical Practice and Recommendations for Screening.Twin research and human genetics : the official journal of the International Society for Twin Studies
Indirect treatment comparisons of nusinersen versus onasemnogene abeparvovec-brve in treatment-naïve and -experienced spinal muscular atrophy patients.Journal of medical economics
Quantitative Analysis of Branaplam (LMI070) in Human Plasma by LC-MS/MS in Support of Clinical Trial in Infant Patients With Spinal Muscular Atrophy (SMA).Biomedical chromatography : BMC
Trial resultA pre-post single-arm pilot trial of a digital multicomponent intervention for self-efficacy enhancement among online support groups of primary caregivers of children with neuro-muscular disorders: SEE-NMD protocol.PloS one
Neurofilaments as Biomarkers of Disease Activity and Treatment Response in Spinal Muscular Atrophy.European journal of neurology
ReviewEarly Independent Powered Mobility in Children With Severe Neuromuscular Disorders: A Scoping Review.Child: care, health and development
Dysregulation of dopamine metabolism in children with spinal muscular atrophy type 1.Brain communications
Paediatric palliative approach in the era of disease modifying therapies in spinal muscular atrophy - a comprehensive landscape of French specialist physicians' perspectives.Orphanet journal of rare diseases
Cost-Effectiveness Analysis of Newborn Screening for Spinal Muscular Atrophy in Argentina.Value in health regional issues
Use of European registries to characterise the changing landscape of disease progression and treatment of spinal muscular atrophy (SMA): opportunities, pitfalls and challenges.Orphanet journal of rare diseases
PCR hyper-automation: an example of spinal muscular atrophy and severe combined immunodeficiency screening.Clinical chemistry and laboratory medicine
Beyond motor rescue: defining adequate SMN restoration in spinal muscular atrophy.The Journal of clinical investigation
Early loss of axons limits the therapeutic window in a mouse model of spinal muscular atrophy.BMC neuroscience
Defining the clinical benefits of disease-modifying therapy in people living with spinal muscular atrophy who require permanent ventilation: a UK-based modified Delphi consensus process.EClinicalMedicine
Interval-based cycling for wheelchair users with spinal muscular atrophy: feasibility, tolerability, and exercise effects.Disability and rehabilitation. Assistive technology
Epidural Spinal Cord Stimulation Reduces Intrinsic Gait Abnormalities in Spinal Muscular Atrophy.Muscle & nerve
Beyond Gross Motor Function: The Association Between Fine Motor Skills and Cognitive Development in Treated SMA Type 1.Journal of clinical medicine
CCN1-mediated stress signaling underlies intrinsic cardiomyocyte dysfunction in spinal muscular atrophy.Cell reports
ReviewManagement of Hip Instability in Spinal Muscular Atrophy in the Disease-Modifying Therapy Era: The "Late Autumn" or "Early Spring" of Neuro-Orthopedics?Biomedicines
Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response.Annals of clinical and translational neurology
ReviewCMAP as an electrophysiological biomarker in spinal muscular atrophy: A systematic review.Neurophysiologie clinique = Clinical neurophysiology
Randomised trialDietitian-Led Synchronous and Asynchronous Tele-Nutrition in Children With Spinal Muscular Atrophy: A Three-Arm Randomized Controlled Trial.Journal of human nutrition and dietetics : the official journal of the British Dietetic Association
In plain wordsRead moreRead the paper on PubMedReviewMicrovasculopathy in spinal muscular atrophy: The endothelium as a target of SMN deficiency and an amplifier of disease.Neurobiology of disease
Pharmacological Activation of Autophagy Ameliorates Neuromuscular-Associated Defects and Extends Lifespan in a Caenorhabditis elegans Model of Spinal Muscular Atrophy.ACS chemical neuroscience
ReviewThe role of vascular pathology in SMA: implications for pathogenesis and treatment.Frontiers in cellular neuroscience
Serum p-tau181 and p-tau217 levels in adolescents and adults with 5q spinal muscular atrophy.Journal of neurology
Disease-specific body composition patterns in children with cerebral palsy and spinal muscular atrophy.Journal of pediatric gastroenterology and nutrition
Machine learning of connectome-wide functional connectivity in spinal muscular atrophy.Neuroscience
Machine learning predicts treatment response to nusinersen in non-sitter spinal muscular atrophy (SMA).Journal of neuromuscular diseases
Nationwide Implementation of Newborn Screening for Spinal Muscular Atrophy in Canada.Neurology. Genetics
Neurofilaments in cerebrospinal fluid and/or serum as a possible biomarker of pediatric spinal muscular atrophy.Journal of neuromuscular diseases
Provider Practice and Patient Clinical Follow-Up Among Patients With Spinal Muscular Atrophy (SMA) Linked-Variant.Prenatal diagnosis
Prevalence of Hypovitaminosis D and Its Association with Motor Impairment in Spinal Muscular Atrophy.Nutrients
Consensus on the Use of Intrathecal Gene Therapy for Spinal Muscular Atrophy.Neuropediatrics
Astrocyte SMN Restoration and Forskolin Treatment Improve SMA Synaptic Pathology.Annals of neurology
PreprintIncomplete cerebellar circuit restoration limits functional recovery following SMN therapy in severe spinal muscular atrophy.bioRxiv : the preprint server for biology
Case reportCase Report: Robot-assisted nissen fundoplication in spinal muscular atrophy type 2-a tailored surgical and anaesthetic strategy.Frontiers in surgery
Long-term real-world outcomes of nusinersen treatment in patients with spinal muscular atrophy types I-III.Brain & development
Clinical Practice of Single-Molecule Real-Time Sequencing in the Diagnosis of Spinal Muscular Atrophy.Molecular genetics & genomic medicine
Case reportSpinal Muscular Atrophy.Continuum (Minneapolis, Minn.)
Muscle biopsy to end a diagnostic odyssey in a genetically complex case of spinal muscular atrophy type 3: the importance of "old school" in the next-generation sequencing era.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
GuidelineConsensus for the Diagnosis and Treatment of Patients With Spinal Muscular Atrophy (SMA) in Latin America.Revista de neurologia
Impaired splicing of a conserved Pcyt2 minor intron in specific neuroglia contributes to spinal muscular atrophy.Science bulletin
Biphasic SMN condensates safeguard stress-induced cytoplasmic mislocalization of splicing RNPs.Cellular and molecular life sciences : CMLS
ReviewTherapeutic advances in spinal muscular atrophy: a review of clinical, safety, and economic considerations.Frontiers in pharmacology
Tissue-specific models of spinal muscular atrophy identify muscle functions required for Drosophila neuromuscular junction architecture.Human molecular genetics
Real-World Treatment Patterns in Patients with Spinal Muscular Atrophy Receiving Multiple Disease-Modifying Therapies.Advances in therapy
Unbiased bioinformatic and clinical analysis identifies glial fibrillary acidic protein as a potential biomarker in spinal muscular atrophy.Brain communications
Serum circulating cell-free messenger RNA profile response to risdiplam treatment in adult patients with late-onset spinal muscular atrophy.Brain communications
LRP12 CGG Repeat Expansions in Patients With Adult-Onset Non-5q Spinal Muscular Atrophy.Neurology. Genetics
Pharmacovigilance and network toxicology analysis of risdiplam-associated adverse events in pediatric patients with spinal muscular atrophy.Naunyn-Schmiedeberg's archives of pharmacology
Analytical Study Showing a False-Negative Limitation of Deletion-Based Newborn Screening for Spinal Muscular Atrophy Using a Compound Heterozygous SMN1 Control.International journal of neonatal screening
Initial Review of Government-Funded Reproductive Carrier Screening for Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome.Prenatal diagnosis
ReviewSpinal muscular atrophy as a blueprint for precision therapy in neuromuscular disease.Expert reviews in molecular medicine
The Management of Swallowing Disorders in Children With Spinal Muscular Atrophy Type 1: A Scoping Review.American journal of speech-language pathology
A Single-Tube Nested PCR Method for SMN1 Deletion Detection in Spinal Muscular Atrophy.Methods and protocols
Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Spain, Greece, and Portugal.Neurology and therapy
Case reportCase Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complex.Frontiers in genetics
ReviewPathophysiology and biomaterials based therapeutic strategies for spinal muscular atrophy.In vitro models
Systematic reviewSpinal Muscular Atrophy, Sleep-Disordered Breathing, and the Effects of Disease-Modifying Therapies: A Narrative Review.Pediatric neurology
In plain wordsRead moreRead the paper on PubMedFirst myostatin-targeted antibody approved for spinal muscular atrophy.Nature reviews. Drug discovery
[Clinical analysis of nusinersen for spinal muscular atrophy types 2 and 3 in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
A changing early onset scoliosis phenotype in spinal muscular atrophy: nusinersen treatment is associated with younger age, increased curve magnitude, and kyphosis at the time of index surgery.Spine deformity
ReviewConsensus on gene therapy for spinal muscular atrophy in Taiwan.Journal of the Formosan Medical Association = Taiwan yi zhi
[Clinical analysis of spinal muscular atrophy complicated with hypoglycemia in 5 children].Zhonghua er ke za zhi = Chinese journal of pediatrics
Molecular diagnosis of spinal muscular atrophy: Experience in a pediatric hospital in Argentina.Archivos argentinos de pediatria
Educational workshop for caregivers of children with spinal muscular atrophy: A mixed-methods study.Archivos argentinos de pediatria
ReviewSpinal muscular atrophy: Biology, pathogenesis, and therapeutic advances.Therapeutic advances in neurological disorders
Gait Speed in Spinal Muscular Atrophy: A Key Vital Sign Linked to Strength and Fatigability.Muscle & nerve
Noninfectious meningitis related to nusinersen: a pharmacovigilance analysis using the WHO database.Neuromuscular disorders : NMD
UK SMA patient registry: a 3-year patient-reported outcome measures study supporting the drug appraisal of Nusinersen and Risdiplam in spinal muscular atrophy.Journal of the neurological sciences
ReviewSpinal muscular atrophy in the disease-modifying therapy era: successes, limitations and future directions.Frontiers in molecular medicine
Respiration during sleep in children with spinal muscular atrophy type 2 and 3, treated with nusinersen or risdiplam.Sleep medicine
Case reportDelayed diagnosis and genetic testing in spinal muscular atrophy: a case series.Annals of medicine
Humanistic and Economic Burden of Spinal Muscular Atrophy in the Gulf Region.Cureus
Meta-analysisA standardized framework resolves ambiguity in motor neuron loss across neurodegenerative diseases.Acta neuropathologica communications
In plain wordsRead moreRead the paper on PubMed"Shaky Hands, Weak Legs": Jerky Tremulousness as a Clue to Spinal Muscular Atrophy.Movement disorders clinical practice
Postural Torticollis and Early-Onset Scoliosis in Infants With SMA Identified Through Newborn Screening: Single Institution Experience.Muscle & nerve
Psychological symptoms in individuals with Spinal Muscular Atrophy (SMA) and their caregivers - results from a nation-wide study in Germany.Orphanet journal of rare diseases
Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications.Neurology. Genetics