Works matching IS 22143599 AND DT 2022 AND VI 9
Results: 72
Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 809, doi. 10.3233/JND-221538
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California's experience with SMA newborn screening: A successful path to early intervention.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 777, doi. 10.3233/JND-221561
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Gene Therapy for Neuromuscular Diseases: Health Economic Challenges and Future Perspectives.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 675, doi. 10.3233/JND-221540
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Gene Therapy for Duchenne Muscular Dystrophy: Unlocking the Opportunities in Countries in the Middle East and Beyond.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 787, doi. 10.3233/JND-221528
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Perioperative Care for Patients with Neuromuscular Disorders in the Netherlands – A Questionnaire Study Among Anaesthesiologists, Neurologists and Clinical Geneticists.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 765, doi. 10.3233/JND-221512
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Associations Between Self-Reported Behavioral and Learning Concerns and DMD Isoforms in Duchenne Muscular Dystrophy.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 757, doi. 10.3233/JND-220821
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Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 803, doi. 10.3233/JND-220818
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Characterizing the Occurrence of Key Clinical Milestones in Duchenne Muscular Dystrophy in the United States Using Real-World Data.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 689, doi. 10.3233/JND-220816
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The Relation Between Nutritional Intake and Body Weight in 4–18 Year Old Patients with DMD: What could possibly be done to prevent weight gain?
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 701, doi. 10.3233/JND-220796
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Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 713, doi. 10.3233/JND-210784
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Orthopedic Interventions for Foot Deformities in Non-Ambulant People with Duchenne Muscular Dystrophy: A Retrospective Study on Indications, Post-Operative and Long-Term Outcomes.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 641, doi. 10.3233/JND-220803
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Multiple Case Study of Changes in Participation of Adults with Myotonic Dystrophy Type 1: Importance of Redesigning Accomplishment and Resilience.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 731, doi. 10.3233/JND-210780
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Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 1.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 629, doi. 10.3233/JND-221503
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Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 649, doi. 10.3233/JND-220823
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A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 661, doi. 10.3233/JND-220819
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Slowly Progressive Limb-Girdle Weakness and HyperCKemia – Limb Girdle Muscular Dystrophy or Anti-3-Hydroxy-3-Methylglutaryl-CoA-Reductase-Myopathy?
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 607, doi. 10.3233/JND-220810
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Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 597, doi. 10.3233/JND-221510
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Diagnostic Yield of Chilaiditi's Sign in Advanced-Phase Late-Onset Pompe Disease.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 619, doi. 10.3233/JND-220792
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Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 615, doi. 10.3233/JND-210782
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Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 2021.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 581, doi. 10.3233/JND-210772
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Real-world Adherence to Nusinersen in Adults with Spinal Muscular Atrophy in the US: A Multi-site Chart Review Study.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 655, doi. 10.3233/JND-210768
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Abstracts of the 17th International Congress on Neuromuscular Diseases (ICNMD 2022).
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- 2022
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- Abstract
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 533, doi. 10.3233/JND-220822
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Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 493, doi. 10.3233/JND-220811
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Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 571, doi. 10.3233/JND-220801
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Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 525, doi. 10.3233/JND-220798
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Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 517, doi. 10.3233/JND-220794
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INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 503, doi. 10.3233/JND-210781
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Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 463, doi. 10.3233/JND-210776
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Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 477, doi. 10.3233/JND-210771
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The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 543, doi. 10.3233/JND-210770
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The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 555, doi. 10.3233/JND-210767
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Timing of Clinical Interventions in Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of Evidence.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 353, doi. 10.3233/JND-220804
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A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 457, doi. 10.3233/JND-220802
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Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 389, doi. 10.3233/JND-220789
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Thymic Lesions in Myasthenia Gravis: A Clinicopathological Study from India.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 411, doi. 10.3233/JND-210785
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Vegetarians, Pescatarians and Flexitarians with Adequate Vitamin B12 Levels Have No Increased Risk of Polyneuropathy.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 383, doi. 10.3233/JND-210775
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Motor Unit and Capillary Recruitment During Fatiguing Arm-Cycling Exercise in Spinal Muscular Atrophy Types 3 and 4.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 397, doi. 10.3233/JND-210765
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Step Activity Monitoring in Boys with Duchenne Muscular Dystrophy and its Correlation with Magnetic Resonance Measures and Functional Performance.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 423, doi. 10.3233/JND-210746
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Role Attainment in Emerging Adulthood: Subjective Evaluation by Male Adolescents and Adults with Duchenne and Becker Muscular Dystrophy.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 447, doi. 10.3233/JND-210709
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Adult North Star Network (ANSN): Consensus Document for Therapists Working with Adults with Duchenne Muscular Dystrophy (DMD) – Therapy Guidelines.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 365, doi. 10.3233/JND-210707
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Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 437, doi. 10.3233/JND-210677
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Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 225, doi. 10.3233/JND-210786
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Aquatic Therapy for Persons with Neuromuscular Diseases – A Scoping Review.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 237, doi. 10.3233/JND-210749
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Stride Velocity 95th Centile: Insights into Gaining Regulatory Qualification of the First Wearable-Derived Digital Endpoint for use in Duchenne Muscular Dystrophy Trials.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 335, doi. 10.3233/JND-210743
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An Open Label Exploratory Clinical Trial Evaluating Safety and Tolerability of Once-Weekly Prednisone in Becker and Limb-Girdle Muscular Dystrophy.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 275, doi. 10.3233/JND-210741
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Impact of SARS-CoV-2 Infection Among Non-Invasive Ventilated ALS Patients.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 257, doi. 10.3233/JND-210733
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Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 289, doi. 10.3233/JND-210731
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Clinical Tests for Predicting Fallers Among Ambulatory Patients with Amyotrophic Lateral Sclerosis: A Preliminary Cohort Study.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 303, doi. 10.3233/JND-210730
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Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 261, doi. 10.3233/JND-210728
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- Article