Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle

Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies

“…DMD and, often, BMD are lethal conditions. Effective treatments are limited for DMD patients, and research for genetic-based therapies is ongoing [7]. As a consequence, the analysis The incidence of DMD and BMD is approximately 1 in 3500 and 1 in 20,000-30,000 live male births, respectively [6].…”

“…DMD and, often, BMD are lethal conditions. Effective treatments are limited for DMD patients, and research for genetic-based therapies is ongoing [7]. As a consequence, the analysis of the DMD gene is of utmost importance for the identification of the underlying molecular defect, because it can confirm the clinical diagnosis, reveal patients' genotype, address patients to the most opportune therapeutic options, and allow the identification of carrier females and the application of prenatal tests [8][9][10].…”

Brain Awareness Week, CoVID-19 infection and Neurological Sciences

“…Neurologic Sciences, as done in the past years, selected the most cited articles published in the past year and granted free access to them one month (Table 1). Table 1 Values obtained through the SIMPER analysis based in the diet of the Crenicichla species from streams, Upper Jacuí and Ibicuí subbasins, Southern Brazil • Kocaturk, O., Besli, F., Gungoren, F. et al [1] The relationship among neutrophil to lymphocyte ratio, stroke territory, and 3-month mortality in patients with acute ischemic stroke • Vita, G., Vita, G.L., Musumeci, O. et al [2] Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle • Park, S.B., Kwon, K., Lee, J. et al [3] Lack of association between dopamine transporter loss and non-motor symptoms in patients with Parkinson's disease: a detailed PET analysis of 12 striatal subregions • Hadjigeorgiou, G.M., Kountra, P., Koutsis, G. et al [4] Replication study of GWAS risk loci in Greek multiple sclerosis patients • Kaur, R., Mehan, S. & Singh, S. [5] Understanding multifactorial architecture of Parkinson's disease: pathophysiology to management • Defazio, G., Albanese, A., Pellicciari, R. et al [6] Expert recommendations for diagnosing cervical, oromandibular, and limb dystonia • Sansone, V.A., Albamonte, E., Salmin, F. et al [7] Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care • Buture, A., Ahmed, F., Dikomitis, L. et al .…”

Is it the right time for an infant screening for Duchenne muscular dystrophy?

“…The therapeutic scenario of spinal muscular atrophy (SMA) has been recently subverted by introduction of nusinersen [ 4 ]. Despite the high cost and different refund policies of health insurances in different countries, its availability is increasing worldwide.…”