03967nam 2200985z- 450 991056646590332120220506(CKB)5680000000037721(oapen)https://directory.doabooks.org/handle/20.500.12854/81062(oapen)doab81062(EXLCZ)99568000000003772120202205d2022 |y 0engurmn|---annantxtrdacontentcrdamediacrrdacarrierNeuromuscular Disorders in Children and AdolescentsBaselMDPI - Multidisciplinary Digital Publishing Institute20221 online resource (146 p.)3-0365-4070-9 3-0365-4069-5 Significant scientific and therapeutic advances have been made in recent decades, particularly in hereditary but also in acquired neuromuscular diseases. As a result of our increasing etiological understanding, the classification of these diseases has changed from a clinical-descriptive and formal-genetic to a molecular-genetic and pathophysiological one. This has led to an intensification of research into the diagnosis and treatment of these diseases, resulting in the first effective gene-modifying treatments for DMD and SMA in recent years and, more recently, gene replacement therapy for the most severe form of SMA. In addition, great strides have been made in symptomatic and rehabilitative treatment, making it possible to improve the functioning and quality of life of those affected and their families. This Special Issue of Children contains a collection of 12 studies and reviews dealing with genetic and acquired peripheral nerve and muscle disorders.Medicine and NursingbicsscNeurology and clinical neurophysiologybicssc3-hydroxy-3-methylglutaryladolescentsAMCbrachial plexus neuritiscarpal tunnel syndromecarrier frequencychaperone-assisted autophagyCharcot-Marie-Tooth diseasechild neurologychildrenclinical courseclinical trialscoenzyme A reductasecontracturesdistal arthrogryposisDuchenne muscular dystrophyECEL1electrodiagnostic studiesfine manual dexterityGAA genegeneral population databasegenetic prevalencehereditary sensory and motor neuropathyinflammatory neuropathyjuvenile myositiskyphosismedian nerve neuropathymetabolic neuropathymucopolysaccharidosismusclemuscle MRIn/aneuromuscularneuromuscular diseaseneuromuscular ultrasoundneuropathynusinersenparalysispatient-reported outcomespediatricsPompe diseaseposterior spinal fusionpublic health surveillancequality of lifesagittal plane deformitysignal recognition particlespinal muscular atrophyspinal muscular atrophy (SMA)therapytraumatic neuropathyultrasonographic elastographyvaccinationMedicine and NursingNeurology and clinical neurophysiologyKorinthenberg Rudolfedt1319552Korinthenberg RudolfothBOOK9910566465903321Neuromuscular Disorders in Children and Adolescents3033957UNINA01212nam0 22003133i 450 MIL064354120251003044236.020130827d1879 ||||0itac50 baitaitz01i xxxe z01nz01ncRDAcarrierTeoderico re dei goti e degl'italianiGottardo GarolloFirenzeTip. della Gazzetta d'Italia1879XIII, 278 p.22 cmEstratto da: Rivista Europea - Rivista Internazionale.Teodorico <re degli Ostrogoti>FIRCFIC065661E945.013092STORIA. ITALIA. PERIODO DELLA DOMINAZIONE GOTICA, 476-553. Persone21Garollo, GottardoRAVV069717070437661ITIT-00000020130827IT-BN0095 IT-NA0581 NAP 01V $NAP FCBIBL CROCE$MIL0643541Biblioteca Centralizzata di Ateneo1 v. 01V (S) 000 769 01S 0009007695 VMF 1 v.B 2014051420140514 01 FCTeoderico re dei goti e degl'italiani64873UNISANNIO