Pediatr Neurol ; Nutrition status survey of type 2 and 3 spinal muscular atrophy in Chinese population. Structural basis of a small molecule targeting RNA for a specific splicing correction.
Survival motor neuron protein deficiency alters microglia reactivity. The Cure SMA clinical trial experience survey: A study of trial participant perspectives on clinical trial management and patient-centric management practices.
Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA. Gene-targeting therapeutics for neurological disease: Lessons learned from spinal muscular atrophy, SMA Fatin 2020.
Intraperitoneal delivery of a novel drug-like compound improves disease severity in severe and intermediate mouse models of Spinal Muscular Atrophy. Blood flow to the spleen is altered in a mouse model of spinal muscular atrophy. Short-duration splice promoting compound enables a tunable mouse model of spinal muscular atrophy, SMA Fatin 2020.
Trajectory of change in the swallowing status in spinal muscular atrophy type I. Int J Pediatr Otorhinolaryngol ; Nutritional status of a large cohort of children with spinal muscular atrophy type 2 SMA2. Motor transmission defects with sex differences in a new SMA Fatin 2020 model of mild spinal muscular atrophy. Dysphagia in spinal muscular atrophy type II: more than a bulbar problem?
Premature delivery in the domestic sow in response to in utero delivery of AAV9 to fetal piglets.
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study
Outreach to new mothers through direct mail and email: recruitment in the Early Check research study. Increased systemic HSP70B levels in spinal muscular atrophy infants.
Nutr Neurosci ; Prevalence and risk factors for feeding and swallowing difficulties in spinal muscular atrophy types II and III. J Pediatr ; 3 Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Published December Published August Supplement published in collaboration with Neurology Reviews, SMA Fatin 2020, March Supplement published in collaboration with Neurology Reviews, December SMA Fatin 2020 Considerations for Drug Combinations. Muscle Nerve ;61 4 Predictive energy equations for spinal muscular atrophy type I children. Safety, tolerability, and SMA Fatin 2020 of nusinersen in non-ambulatory adults with spinal muscular atrophy. Sumoylation regulates the assembly and activity of the SMN complex.
Ann Neurol ;72 2 Responses to fasting and glucose loading in a cohort of well children with spinal muscular atrophy type II, SMA Fatin 2020. Hip pain in non-ambulatory children with Type-I or II spinal muscular atrophy. Ann Clin Transl Neurol ;6 11 Abnormal fatty acid metabolism is a core component of spinal muscular atrophy. Dysphagia phenotypes in spinal muscular atrophy: The past, present, and promise for the future. Clinical and research readiness for spinal muscular atrophy: The time is now for knowledge translation.
SMN depleted mice offer a robust and rapid onset model of non-alcoholic fatty liver disease. Permittivity of ex vivo healthy and diseased murine skeletal muscle from 10 kHz to 1 MHz. Impaired kidney structure and function in SMA. Outcome measures Russian porn had a cohort of ambulatory SMA Fatin 2020 with spinal muscular atrophy.
Spinal Muscular Atrophy (SMA) and Medical Nutrition Therapy
Metabolic dysfunction in spinal muscular atrophy. SMA Fatin 2020 fatty acid metabolism is a core component of spinal muscular atrophy. Low fat diets increase survival of a mouse model of spinal muscular atrophy.
Neuromuscul Disord. Assessment of cerebral spinal fluid biomarkers and microRNA-mediated disease mechanisms in spinal muscular atrophy patient samples.
Evaluating benefit-risk decision-making in spinal muscular atrophy: A first-ever study to assess risk tolerance in the spinal muscular atrophy patient community. Bone ; Adiposity Myanmarxxteacher increased among high-functioning, non-ambulatory patients with spinal muscular atrophy, SMA Fatin 2020. Neurology ;79 18 : Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy.
Ann Clin Transl Neurol ;6 8 Sproule, DM. General nutrition guidelines for SMA children. Stander use in spinal muscular atrophy: Results from a large natural history database. SMA Fatin 2020 recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening SMA Fatin 2020 have Four copies of SMN2.
Neurology ;73 21 Glucose metabolism and pancreatic defects in spinal muscular atrophy.
Journal of Advanced Research in Health Sciences
Safety, tolerability, SMA Fatin 2020, and effect of nusinersen treatment in ambulatory adults with 5q-SMA. PMID: Read more. Whole blood SMN protein levels correlate with SMA Fatin 2020 of denervation in spinal muscular atrophy. Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy.
Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models, SMA Fatin 2020. Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy.
Clinical variability in spinal muscular atrophy Type 3. The Cure SMA Membership Surveys: Highlights of key demographic and clinical characteristics of individuals with spinal muscular atrophy. Neuromuscul Disord ;26 7 Predicted and measured resting energy expenditure in children with spinal muscular atrophy 2. Comparison of the efficacy of MOE and PMO modifications of systemic antisense oligonucleotides in a severe spinal muscular atrophy mouse model.
Neuromuscul Disord ;28 2 Feeding problems and malnutrition in spinal muscular atrophy type II. Neuromuscul Disord ;18 5 European Society for Paediatric Gastroenterology, Hepatology and Nutrition guidelines for the evaluation and treatment of gastrointestinal and nutritional complications in children with neurological impairment. In search of a cure: The development of therapeutics to alter the progression of spinal muscular atrophy. Neuromuscul Disord ;20 7 Describing nutrition in spinal muscular atrophy: A systematic review.
J Pediatr ; 5 Clin Nutr ;36 6 Evaluation of body composition as a potential biomarker in spinal muscular atrophy, SMA Fatin 2020. Awareness screening and referral patterns among pediatricians in the United States related to early clinical features SMA Fatin 2020 spinal muscular atrophy SMA.
Economic burden of spinal muscular atrophy: an analysis of claims data, SMA Fatin 2020. Prospective cohort study of nusinersen treatment in adults with spinal muscular atrophy. R-Roscovitine improves motoneuron function in mouse models for spinal muscular atrophy. Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy.
Survival motor neuron deficiency slows myoblast fusion through SMA Fatin 2020 myomaker and myomixer expression. Am J Clin Nutr ; 5 Observational study of caloric and nutrient intake, bone SMA Fatin 2020, and body composition in infants and children with spinal muscular atrophy type I.
Neuromuscul Disord ;22 11 Low fat diets increase survival of a mouse model of spinal muscular atrophy. Neurology ;83 12 Nutritional status and nutrient intake challenges in children with spinal muscular atrophy.
Essential competencies for physical therapist managing individuals with spinal muscular atrophy: A delphi study. J Child Neurol ;26 3 Bone and spinal muscular atrophy.
Identification and structural analysis of the Schizosaccharomyces pombe SMN complex. A voluntary statewide newborn screening pilot for spinal muscular atrophy: Results from early check.
Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen. Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy. Clinical trial readiness for spinal muscular atrophy: Experience of Alicewiil international educational-training initiative.
Published SMA Research - Cure SMA
Published November Disseminated to the FDA January J Pediatr Gastroenterolog Nutr ;65 2 Poyraz T, Demir S, SMA Fatin 2020. Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy.
Assessing perspectives of disease burden and clinically meaningful changes using the Spinal Muscular Atrophy SMA Fatin 2020 Index in adolescents and young adults. Whole-blood dysregulation of actin-cytoskeleton pathway in adult spinal muscular atrophy patients.
Neuromuscul Disord ;19 6 Prospective cohort study of spinal muscular atrophy types 2 and 3. Neuroanatomical models of SMA Fatin 2020 strength and relationship to ambulatory function in spinal muscular atrophy, SMA Fatin 2020.
The Cure SMA membership surveys: Highlights of key demographic and clinical characteristics of individuals with spinal muscular atrophy. Splicing defects of the profilin gene alter actin dynamics in an S. Stasimon contributes to the loss of sensory synapses and motor neuron death in a mouse model of spinal muscular atrophy.
Reduced P53 levels ameliorate neuromuscular junction loss without affecting motor neuron pathology in a mouse model of spinal muscular atrophy. Pathologic alterations in the proteome of synaptosomes from a mouse model of spinal muscular atrophy. Neuromuscul Disord ;S Feeding difficulties in children and adolescents with spinal muscular atrophy type 2, SMA Fatin 2020.