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Spinal muscular atrophy (SMA)
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Publications and studies (1657)
- Commentary or editorialiAn expert's opinion or commentary, not new research. The Dilemma of Two Innovative Therapies for Spinal Muscular Atrophy. (2017/11/02) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. (2017/11/02) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. (2017/11/02) ♡
- Spinal muscular atrophy carriers with two SMN1 copies. (2017/11/01) ♡
- Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. (2017/11/01) ♡
- Paper #45: Development of a Risk Severity Score (RSS) Predicting Surgical Site Infection in Early Onset Scoliosis: Identifying High-Risk Patients. (2017/11/01) ♡
- Body Composition in Children with Chronic Illness: Accuracy of Bedside Assessment Techniques. (2017/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Newborn Screening for Spinal Muscular Atrophy and Lysosomal Storage Disorders Takes Advantage of Novel Therapies. (2017/11/01) ♡
- 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. Regulation of Skeletal Muscle Plasticity by Protein Arginine Methyltransferases and Their Potential Roles in Neuromuscular Disorders. (2017/11/01) ♡
- Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services. (2017/11/01) ♡
- The relative frequency of common neuromuscular diagnoses in a reference center. (2017/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hirayama Disease: A Diagnostic and Therapeutic Challenge. (2017/11/01) ♡
- Survival Motor Neuron Protein is Released from Cells in Exosomes: A Potential Biomarker for Spinal Muscular Atrophy. (2017/10/24) ♡
- In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology. (2017/10/24) ♡
- Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy. (2017/10/16) ♡
- The water extract of Liuwei dihuang possesses multi-protective properties on neurons and muscle tissue against deficiency of survival motor neuron protein. (2017/10/15) ♡
- Free-Aspire: A new device for the management of airways clearance in patient with ineffective cough. (2017/10/06) ♡
- Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA. (2017/10/01) ♡
- 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. Muscle-Bone Interactions in Pediatric Bone Diseases. (2017/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Denosumab Treatment of Severe Disuse Osteoporosis in a Boy With Spinal Muscular Atrophy. (2017/10/01) ♡
- 10(th) Young Faculty Meeting, 6(th) June 2017. (2017/09/27) ♡
- 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. Phosphatase and tensin homologue: a therapeutic target for SMA. (2017/09/08) ♡
- New, Improved Version of the mCOP-PCR Screening System for Detection of Spinal Muscular Atrophy Gene (SMN1) Deletion. (2017/09/07) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Spinal Muscular Atrophy: The Treatment Approved. (2017/09/02) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. SMA mutations in SMN Tudor and C-terminal domains destabilize the protein. (2017/08/01) ♡
- Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. (2017/08/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman. (2017/08/01) ♡
- Essay On Being A Doctor: Mirrors. (2017/07/01) ♡
- 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. [Possible treatments for infantile spinal atrophy]. (2017/05/17) ♡
- 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. Clinical features of amyotrophic lateral sclerosis and their prognostic value. (2017/05/01) ♡
- Low bone mineral density and fractures are highly prevalent in pediatric patients with spinal muscular atrophy regardless of disease severity. (2017/04/01) ♡
- Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients. (2017/03/15) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Exercise and Transversus Abdominis Muscle Atrophy after 60-d Bed Rest. (2017/02/01) ♡
- Spinal Muscular Atrophy Type I: Is It Ethical to Standardize Supportive Care Intervention in Clinical Trials? (2017/02/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Tail Nerve Electrical Stimulation and Electro-Acupuncture Can Protect Spinal Motor Neurons and Alleviate Muscle Atrophy after Spinal Cord Transection in Rats. (2017/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Healing of Amyotrophic Lateral Sclerosis: A Case Report]. (2017/01/01) ♡
- 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. Challenges and Advances in Gene Therapy Approaches for Neurodegenerative Disorders. (2017/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Two Cases of Spinal Muscular Atrophy Type II with Eosinophilic Oesophagitis. (2017/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Bicalutamide Plus Aromatase Inhibitors in ER(+)/AR(+)/HER2(-) Metastatic Breast Cancer (2017-12-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Measuring Levels of SMN in Blood Samples of SMA Patients (2017-10-06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Respiratory Care in Intensive Care Unit for Neuromuscular Patients (2017-08-29) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Brain Physiology in Polio Survivors (2017-07-02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural History of Spinal Muscular Atrophy Type 1 in Taiwan (2017-06-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Progressive Strength Training in Spinal Muscular Atrophy (2017-06-14) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Activity Dependent Rehabilitation Model to Improve Bone and Muscle Outcomes (2017-03-28) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Activity and Fatigue of the Respiratory Muscles and Pulmonary Characteristics in Post-Polio Patients (2017-02-27) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Glutathione and Health With Post-Polio Syndrome (2017-02-17) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study of RO6885247 in Adult and Pediatric Patients With Spinal Muscular Atrophy (MOONFISH) (2016-12-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. ECoG Direct Brain Interface for Individuals With Upper Limb Paralysis (2016-12-12) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy (2016-12-06) ♡
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