Neuromuscular Disorders in Children and Adolescents
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–g...
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Year of Publication: | 2022 |
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Physical Description: | 1 electronic resource (146 p.) |
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Korinthenberg, Rudolf edt Neuromuscular Disorders in Children and Adolescents Basel MDPI - Multidisciplinary Digital Publishing Institute 2022 1 electronic resource (146 p.) text txt rdacontent computer c rdamedia online resource cr rdacarrier 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. English Medicine bicssc Neurology & clinical neurophysiology bicssc Pompe disease GAA gene general population database carrier frequency genetic prevalence spinal muscular atrophy quality of life child neurology patient-reported outcomes neuromuscular carpal tunnel syndrome median nerve neuropathy electrodiagnostic studies neuromuscular ultrasound mucopolysaccharidosis neuropathy children adolescents Charcot-Marie-Tooth disease traumatic neuropathy inflammatory neuropathy metabolic neuropathy posterior spinal fusion kyphosis sagittal plane deformity signal recognition particle 3-hydroxy-3-methylglutaryl coenzyme A reductase juvenile myositis therapy clinical course chaperone-assisted autophagy clinical trials Duchenne muscular dystrophy public health surveillance distal arthrogryposis AMC ECEL1 contractures muscle MRI spinal muscular atrophy (SMA) nusinersen fine manual dexterity ultrasonographic elastography neuromuscular disease muscle brachial plexus neuritis hereditary sensory and motor neuropathy paralysis vaccination pediatrics 3-0365-4070-9 3-0365-4069-5 Korinthenberg, Rudolf oth |
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English |
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author2 |
Korinthenberg, Rudolf |
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Korinthenberg, Rudolf |
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title |
Neuromuscular Disorders in Children and Adolescents |
spellingShingle |
Neuromuscular Disorders in Children and Adolescents |
title_full |
Neuromuscular Disorders in Children and Adolescents |
title_fullStr |
Neuromuscular Disorders in Children and Adolescents |
title_full_unstemmed |
Neuromuscular Disorders in Children and Adolescents |
title_auth |
Neuromuscular Disorders in Children and Adolescents |
title_new |
Neuromuscular Disorders in Children and Adolescents |
title_sort |
neuromuscular disorders in children and adolescents |
publisher |
MDPI - Multidisciplinary Digital Publishing Institute |
publishDate |
2022 |
physical |
1 electronic resource (146 p.) |
isbn |
3-0365-4070-9 3-0365-4069-5 |
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Not Illustrated |
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AT korinthenbergrudolf neuromusculardisordersinchildrenandadolescents |
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(CKB)5680000000037721 (oapen)https://directory.doabooks.org/handle/20.500.12854/81062 (EXLCZ)995680000000037721 |
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Neuromuscular Disorders in Children and Adolescents |
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1796651970315943937 |
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