Original articles
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The FHL1 myopathy spectrum revisited: a Literature Review and report of two new patients
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Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature
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Congenital tubular aggregates myopathy associated with central nervous system involvement: description of a case
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Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre level
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Gene therapy for Duchenne Muscular Dystrophy: assessing the readiness of Italian centres of expertise
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Indications and techniques of non-invasive ventilation (NIV) in neuromuscular diseases
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Concise review of end of life and palliative care in neuromuscular pathologies: still a long pathway ahead
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Nutrition therapy in non-intubated patients with acute respiratory failure: a narrative review
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Practical recommendations for swallowing and speaking during NIV in people with neuromuscular disorders
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Fatigue in Spinal Muscular Atrophy: a fundamental open issue
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Treatment with ataluren of four symptomatic nmDMD carriers. A pilot study
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Continuitiy of care with ataluren in Duchenne Muscular Dystrophy patients with nonsense mutations after loss of ambulation. Personal experience
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Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation
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Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature
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Cognitive function in DMD carriers: personal case series and literature review
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Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients
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Pregnancy experience in women with spinal muscular atrophy: a case series.
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The atrial and ventricular myocardial proteome of endstage lamin heart disease
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Torin1 restores proliferation rate in Charcot-Marie- Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation
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Is paravertebral muscles edema a consequence of neurogenic changes in MuSK-positive myasthenia gravis?
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Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM – Italian Muscular Dystrophy Association Workshop report
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Neuromuscular disorders and transition from pediatric to adult care in a multidisciplinary perspective: a narrative review of the scientific evidence and current debate
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Gender effect on onset, prevalence and surgical treatment of cataract in patients with Myotonic Dystrophy type 1
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Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course
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Impact of the COVID-19 pandemic on neuromuscular rehabilitation setting. Part 2: patients and families’ views on the received health care during the pandemic
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Muscle quantitative MRI in adult SMA patients on nusinersen treatment: a longitudinal study
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Peripheral circulation disturbances in two consecutive children with spinal muscular atrophy and literature review
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The role of BAG3 in dilated cardiomyopathy and its association with Charcot-Marie-Tooth disease type 2
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Ambulatory Duchenne muscular dystrophy children: cross-sectional correlation between function, quantitative muscle ultrasound and MRI
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Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature
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