Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 20 for “"neuromuscular disorder"”.
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ΜΕΛΕΤΗ ΤΗΣ ΒΑΡΕΙΑΣ ΜΥΑΣΘΕΝΕΙΑΣ ΚΑΙ ΤΟΥ ΥΠΟΔΟΧΕΑ ΤΗΣ ΑΚΕΤΥΛΟΧΟΛΙΝΗΣ ΜΕ ΤΗΝ ΒΟΗΘΕΙΑ ΜΟΝΟΚΛΩΝΙΚΩΝ ΑΝΤΙΣΩΜΑΤΩΝ
MYASTHENIA GRAVIS (MG) IS A NEUROMUSCULAR DISORDER MANIFESTED BY WEAKNESS AND FATIGABILITY OF VOLUNTARY MUSCLES DUE MAINLY TO AUTOANTIBODY-MEDIATED LOSS OF ACETYLCHOLINE RECEPTOR (ACHR). ACHR IS A MEMBRANE GLYCOPROTEIN (M.W.-290,000) COMPOSED OF FIVE SUBUNITS IN THE MOLECULAR RATIO OF A2BΓΔ. …
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Klinik und Molekulargenetik der hereditären motorischen und sensiblen Neuropathien im Kindesalter
… of clinically and genetically heterogeneous disorders of the peripheral nervous system. With an overall prevalence of 1 in 2500, CMT is the most common inherited neuromuscular disorder in man. This study points out the variety of responsible mutations of patients with early childhood onset …
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Identification and characterisation of novel marker proteins involved in X-linked muscular dystrophy
… dystrophy represents the most commonly inherited neuromuscular disorder in humans. Although the primary abnormality lies with the loss of dystrophin and reduction of its associated glycoprotein complex, secondary alterations in metabolic pathways, cellular signalling and ion homeostasis regulation …
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In vivo identification of drug therapeutics for nemaline myopathy
… (NM). Nemaline myopathy is a rare congenital neuromuscular disorder characterized by muscle weakness and the accumulation of fine rod-like structures, known as nemaline bodies, within skeletal muscle fibers. The main objective of this study was to identify potential therapeutic compounds …
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Identifizierung und Charakterisierung des Gens für die autosomal rezessiv erbliche Charcot-Marie-Tooth-Neuropathie Typ 4C (CMT4C)
… neuropathy (CMT) is the most common inherited neuromuscular disorder. In most of the families, HMSN is inherited as an autosomal dominant or X-linked trait. In Western Europe, autosomal recessive HMSN (AR-HMSN) is much less common than the dominant forms. However, in communities with a high …
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Molekulargenetik der autosomal rezessiven Charcot-Marie-Tooth-Neuropathie mit fokal gefalteten Myelinscheiden
… neuropathies are the most common hereditary neuromuscular disorder. In most families the disorder follows an autosomal dominant or X-linked mode of inheritance. Autosomal recessive HMSN (AR-HMSN) is rare in Western Europe, however, in geographic regions and populations with a high incidence …
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Gene therapy in mouse models of spinal muscular atrophy :
… Muscular Atrophy (SMA), an autosomal recessive neuromuscular disorder, is the leading genetic cause of infant mortality. SMA is caused by the functional, homozygous loss of the Survival Motor Neuron-1 (SMN1) gene which encodes for the ubiquitously expressed Survival Motor Neuron (SMN) protein. …
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Prevention of Duchenne Muscular Dystrophy by CRISPR/Cas Therapeutic Genome Editing
… Duchenne muscular dystrophy (DMD) is a lethal neuromuscular disorder, caused by mutations in the DMD gene on the X chromosome, which consists of 79 exons encoding dystrophin protein. Patients with DMD develop progressive muscle weakness and cardiomyopathy, and ultimately succumb to respiratory …
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Duchenne muscular dystrophy in South Africa : molecular aspects
… of Human Genetics, MRC Unit for Skeletal Disorders, UCT Medical School, Observatory, Cape Town, South Africa. Duchenne muscular dystrophy (DMD) is a lethal X-linked neuromuscular disorder, characterised by progressive muscle wasting and weakness. DMD has its onset in early childhood, …
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An Investigation of TorsinA Interaction Partners
… activities) protein that is implicated in the neuromuscular disorder DYT-TOR1A early-onset isolated dystonia. DYT-TOR1A is a heritable form of dystonia characterized by involuntary twisting movements and postures that arise during adolescence. A glutamate deletion towards the C terminus of …
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Targeting transcriptional and translational mechanisms to enhance utrophin A expression as a therapy for Duchenne muscular dystrophy
Duchenne Muscular Dystrophy (DMD) is a fatal, neuromuscular disorder caused by mutations/deletions in the dystrophin gene. In skeletal muscle, dystrophin is expressed along the sarcolemma, providing a mechanical link between the cytoskeleton and the extracellular matrix; loss of dystrophin results …
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Physiological and pathological role of serine 96 phosphorylation in the regulation of androgen receptor
… bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disorder characterized by the progressive dysfunction and loss of lower motor neurons. SBMA is caused by the expansion of a CAG tandem repeat encoding a polyglutamine (polyQ) tract in the androgen receptor (AR) gene. SBMA belongs to …
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Development of therapeutic agents for myotonic dystrophy type 1
… dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder which is caused by a dominantly inherited (CTG·CAG) repeat expansion in the 3’-UTR of the Dystrophia Myotonica Protein Kinase (DMPK) gene on chromosome 19. The genetic basis of DM1 is that DMPK is transcribed into an mRNA …
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Functional characterisation of the CAG polymorphism in the androgen receptor- in vitro and in vivo
… in patients with Kennedy’s disease, which is a neuromuscular disorder caused by an abnormally expanded CAG repeat (>40 CAG). However, in vivo data concerning the association between CAG numbers within normal length and androgenic effects were conflicting. As understanding the impact of CAG …
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Data driven modeling and MPC Based control for Pathological Tremors
Pathological tremor is a common neuromuscular disorder that significantly affects the quality of life for patients worldwide. With recent developments in robotics, rehabilitation exoskeletons serve as one of the solutions to alleviate these tremors. For improved performance of such devices, we need …
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Designing a Quantitative Videofluoroscopic Analysis Approach in Infants with Spinal Muscular Atrophy Type 1
… Muscular Atrophy Type I (SMA 1) is a progressive neuromuscular disorder that causes rapid feeding deterioration in infants. Recent FDA approval of disease-modifying therapies have led to improvements in survival and motor function; however, their effects on bulbar physiology remains unclear. In …
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RNA recognition: controlling RNA-protein complexes with small molecules
… dystrophy (DM1 and DM2) is an autosomal dominant neuromuscular disorder associated with a (CTG)n and (CCTG)n expansion in the 3’-untranslated region of the Dystrophia Myotonica protein kinase (DMPK) gene. The disease is characterized by a waning of the muscles (muscular dystrophy), eye-lens …
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Characterisation of LITAF, a protein associated with Charcot-Marie-Tooth disease type 1C
… disease (CMT) is the commonest inherited neuromuscular disorder, which affects the peripheral nervous system leading to nerve degeneration. CMT is categorised into two forms, ‘axonal’ and ‘demyelinating’, which reflects the main site of pathology as the axon or Schwann cells respectively. …
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Common Pathophysiological Features of Charcot-Marie-Tooth Disease
… as Charcot-Marie-Tooth disease (CMT) and related disorders, are a group of genetic disorders causing length-dependant neuropathy, resulting in motor and/or sensory loss progressing from the lower extremities toward the spine. With a population prevalence of 1 in 2,500, CMT is the most common …
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Molekulargenetische und funktionelle Untersuchungen zu autosomal-rezessiv erblichen Neuropathien
… represents the most frequent inherited neuromuscular disorder. In most cases HMSN is of autosomal dominant or X-chromosomal trait. Yet, the autosomal recessive inherited form (AR-HMSN) is less frequent in Western industrialized countries. However, in regions and population groups with a …