ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2019
Italian recommendations for diagnosis and management of congenital myasthenic syndromes.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06630650 (A Single Center Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes), which is not on this map. Cited by 14 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
A Single Center Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes
Who cites it
14 citing papers in PubMed, 34 citations in OpenAlex.
- Inspiratory muscle training and aerobic exercise for respiratory muscle strength in myasthenia gravis post-hospitalization- a randomized controlled trial.BMC pulmonary medicine · 2025Trial
- Epidemiological study of congenital myasthenic syndromes based on national electronic health database of Turkiye.Northern clinics of Istanbul · 2025Article
- Beyond Motor Neurons in Spinal Muscular Atrophy: A Focus on Neuromuscular Junction.International journal of molecular sciences · 2024Review
- The Importance of Early Treatment of Inherited Neuromuscular Conditions.Journal of neuromuscular diseases · 2024Review
- Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.Cells · 2021Review
- Favorable outcome of COVID-19 infection in a patient with congenital myasthenic syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Salbutamol as effective treatment in slow-channel syndrome- first report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Article
- The Platform Vector Gene Therapies Project: Increasing the Efficiency of Adeno-Associated Virus Gene Therapy Clinical Trial Startup.Human gene therapy · 2020Article
- Evidence-Based Practice in Rehabilitation of Myasthenia Gravis. A Systematic Review of the Literature.Journal of functional morphology and kinesiology · 2020Review
- Practical approach to respiratory emergencies in neurological diseases.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Italian recommendations for the diagnosis and treatment of myasthenia gravis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Article
- Rare Diseases Day and Brain Awareness Week: the active participation of Neurological Sciences.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Article
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Authors and funding
15 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital myasthenic syndromes (CMS) are genetic disorders due to mutations in genes encoding proteins involved in the neuromuscular junction structure and function. CMS usually present in young children, but perinatal and adult onset has been reported. Clinical presentation is highly heterogeneous, ranging from mild symptoms to severe manifestations, sometimes with life-threatening respiratory episodes, especially in the first decade of life. Although considered rare, CMS are probably underestimated due to diagnostic difficulties. Because of the several therapeutic opportunities, CMS should be always considered in the differential diagnosis of neuromuscular disorders. The Italian Network on CMS proposes here recommendations for proper CMS diagnosis and management, aiming to guide clinicians in their practical approach to CMS patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.