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Spinal muscular atrophy (SMA)

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest evidence only (55)Meta-analysis (4)Treatment guideline (3)Systematic review (20)Phase 3 study (16)Randomized controlled trial (12)Clinical trial (482)Review article (202)Early-stage study (phase 1 or 2) (13)Case report (127)Laboratory or animal study (39)Commentary or editorial (56) Studies currently recruiting participants only (34)

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Publications (1202)

• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report. (2021/10/26) ♡
• Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay. (2021/10/26) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Intrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity. (2021/10/26) ♡
• Hyperbaric Oxygen Therapy Attenuates Burn-Induced Denervated Muscle Atrophy. (2021/10/25) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulism. (2021/10/24) ♡
• Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship between Strength and Performance of Forward Lunge, Step Up and Over, and Step Quick Turn. (2021/10/23) ♡
• Wearable Robots: An Original Mechatronic Design of a Hand Exoskeleton for Assistive and Rehabilitative Purposes. (2021/10/21) ♡
• Natural history of spinal muscular atrophy in children: an analysis of 117 cases. (2021/10/15) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy. (2021/10/13) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy. (2021/10/01) ♡
• Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Matching-adjusted indirect treatment comparison of onasemnogene abeparvovec and nusinersen for the treatment of symptomatic patients with spinal muscular atrophy type 1. (2021/10/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review. (2021/10/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Neurogenic arthrogryposis and the power of phenotyping. (2021/10/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Spinal muscular atrophy: from rags to riches. (2021/10/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Mechanisms and Treatments in Demyelinating CMT. (2021/10/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Growth patterns in children with spinal muscular atrophy. (2021/09/04) ♡
• Disorders of sleep in spinal and bulbar muscular atrophy (Kennedy's disease). (2021/09/01) ♡
• Real-world respiratory and bulbar comorbidities of SMA type 1 children treated with nusinersen: 2-Year single centre Australian experience. (2021/09/01) ♡
• Genetic screening techniques and diseases for neonatal genetic diseases. (2021/08/25) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Emerging role of non-coding RNA in health and disease. (2021/08/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. GARS1-Associated Axonal Neuropathy. (2021/07/22) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Nutritional, Gastrointestinal and Endo-Metabolic Challenges in the Management of Children with Spinal Muscular Atrophy Type 1. (2021/07/13) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Risdiplam for the Use of Spinal Muscular Atrophy. (2021/07/12) ♡
• Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. (2021/07/01) ♡
• The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs. (2021/07/01) ♡
• Spinal Muscular Atrophy Therapeutics in India: Parental Hopes and Despair! (2021/07/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. The Antisense Oligonucleotide Nusinersen for Treatment of Spinal Muscular Atrophy. (2021/06/19) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Unusual inclusions in cerebrospinal fluid macrophages of spinal muscular atrophy patients treated with nusinersen. (2021/06/01) ♡
• Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases. (2021/06/01) ♡
• Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center. (2021/06/01) ♡
• Nutritional Therapy in Children With Spinal Muscular Atrophy in the Era of Nusinersen. (2021/06/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Camptocormia as the main manifestation of a mutation in the POLG gene. (2021/06/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Metabolic Dysfunction in Spinal Muscular Atrophy. (2021/05/31) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future. (2021/05/18) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Respiratory outcomes post nusinersen in spinal muscular atrophy type 1. (2021/05/01) ♡
• Cardiovascular and sudomotor dysfunction in Hirayama disease. (2021/04/01) ♡
• Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies. (2021/04/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series. (2021/04/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Current and emerging therapies for Duchenne muscular dystrophy and spinal muscular atrophy. (2021/04/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation. (2021/04/01) ♡
• Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis. (2021/04/01) ♡
• Identification of SRSF10 as a regulator of SMN2 ISS-N1. (2021/03/01) ♡
• A rapid molecular diagnostic method for spinal muscular atrophy. (2021/03/01) ♡
• Correlation of Pulmonary Function to Novel Radiographic Parameters of Collapsing Parasol Deformity in Spinal Muscular Atrophy. (2021/03/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Spinal motor neuron loss occurs through a p53-and-p21-independent mechanism in the Smn(2B/-) mouse model of spinal muscular atrophy. (2021/03/01) ♡
• Nusinersen treatment of older children and adults with spinal muscular atrophy. (2021/03/01) ♡
• Correlates of Fatigability in Patients With Spinal Muscular Atrophy. (2021/02/09) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Current Clinical Applications of In Vivo Gene Therapy with AAVs. (2021/02/03) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Is it time to re-think juvenile-onset Rheumatic and Musculoskeletal Diseases? - First steps towards individualised treatments to meet agreed targets. (2021/02/01) ♡
• The cutaneous silent period in motor neuron disease. (2021/02/01) ♡

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