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Showing 1 to 20 of 28 for “"Spinal muscular atrophy"”.
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The pathophysiology of spinal muscular atrophy
… and pathophysiology of motor dysfunction in spinal muscular atrophy (SMA) using clinical, epidemiological, neurophysiological and genetic studies. Natural history studies confirmed the unique clinical course, atypical for a neurodegenerative disease, in which progression appeared most rapid …
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Spinal Muscular Atrophy: Evidence of a Multi-System Disease
Spinal muscular atrophy (SMA) is a devastating recessive neurological disorder thought to be affecting primarily the motor neurons. As such, paralysis, motor weakness and death ensue. While SMA is most commonly seen in infants and children, it can span all ages. Its genetic etiology revolves around …
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Gene therapy in mouse models of spinal muscular atrophy :
Spinal 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) …
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Novel RNA Targets of the Spinal Muscular Atrophy Protein
… motor neuron (SMN) protein, the disease gene in spinal muscular atrophy (SMA). SMN is part of a macromolecular protein complex and catalyzes the assembly of a heptameric core of Sm proteins onto small nuclear RNAs (snRNAs) to form spliceosomal snRNPs required for RNA splicing. The Sm and Sm-like …
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Examine the role of minor splicing pathway in spinal muscular atrophy
Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder mainly caused by deletions or mutations of one gene, Survival Motor Neuron (SMN). SMN is crucial in splicing processes for proper gene expression. Previous studies showed a significant decrease in the levels of minor splicing (U12 …
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SPINAL MUSCULAR ATROPHY ORGANOIDS REVEAL DEVELOPMENTAL DEFECTS RESCUED BY ANTISENSE OLIGONUCLEOTIDES TREATMENT
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in the SMN1 gene. Recent therapies have significantly modified SMA natural course, but treatment efficacy remains variable and the reasons beyond this variability are still largely unexplored. Identifying pre-symptomatic …
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ANALYSIS OF AXONAL TRANSPORT DEFECTS IN A ZEBRAFISH MODEL FOR SPINAL MUSCULAR ATROPHY
Spinal muscular atrophy (SMA) is an autosomal recessive hereditary neurodegenerative disease caused by a deficiency of the survival motor neuron (SMN) protein. It is characterised by the progressive loss of α-motor neurons (MNs), leading to muscle weakness, atrophy, and in the worst cases death. …
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Designing a Quantitative Videofluoroscopic Analysis Approach in Infants with Spinal Muscular Atrophy Type 1
Background: Spinal 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 …
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Investigating modifiers that can regulate selective vulnerability in mouse models of spinal muscular atrophy
Spinal muscular atrophy (SMA) is a childhood form of motor neuron disease. It is characterised by the loss of lower motor neurons and muscle weakening and atrophy of associated muscles. Motor neurons (MNs) are the primary pathological target of SMA, but it has long been shown that breakdown of …
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Tracking individual disease-trajectory of patients with neuromuscular disorders (Duchenne muscular dystrophy and spinal muscular atrophy)
Neuromuscular diseases represent a diverse group of complex genetic disorders. In conditions such as Duchenne muscular dystrophy (DMD) and Spinal muscular atrophy (SMA), progressive motor impairment limiting activities of daily life is a common and central clinical feature. Over the last 15 years, …
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OPTIMIZATION OF AAV9 GENE THERAPY FOR SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 USING IN VIVO DISEASE MODELS
Spinal Muscular Atrophy with Respiratory Distress type 1 (SMARD1) is a rare autosomal recessive motoneuron disease with infantile onset, with an estimated incidence of 1/100’000. It is caused by mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene, which lead to a deficient amount of …
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Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in a mouse model of spinal muscular atrophy
Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disease with an incidence of around one in every 10,000 live births. In most patients, SMA is caused by mutations in the survival motor neuron 1 gene (SMN1), resulting in insufficient production of full-length, functional SMN protein. …
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MOTONEURON MAINTENANCE DEFECTS AND NON-CELL AUTONOMOUS CONTRIBUTIONS BY SCHWANN CELLS IN ZEBRAFISH MUTANT AND MORPHANT MODELS FOR SPINAL MUSCULAR ATROPHY
… deficiency results in motoneuron (MN) loss in Spinal Muscular Atrophy (SMA) patients. SMN is encoded by SMN1 and SMN2 which differ in a C6T nucleotide leading to differential splicing of exon 7. My novel zebrafish smn2 mutant established that C6T transition in hSMN2 disrupts an exonic splicing …
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Development and Validation of Quantitative PCR Assays for DNA-Based Newborn Screening of 22q11.2 Deletion Syndrome, Spinal Muscular Atrophy, Severe Combined Immunodeficiency and Congenital Cytomegalovirus Infection
… rare disorders; deletion 22q11.2 syndrome and Spinal Muscular Atrophy (SMA), Severe Combined Immunodeficiency (SCID) and Congenital Cytomegalovirus (CMV), are potential candidates for inclusion to the newborn screening panel within the next few years. The major focus of this study was to …
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Identifying modifier genes in SMA model mice
Spinal Muscular Atrophy (SMA) involves the loss of nerve cells called motor neurons in the spinal cord and is classified as a motor neuron disease, it affects 1 in 5000-10000 newborns, one of the leading genetic causes of infant death in USA. Mutations in the SMN1, UBA1, DYNC1H1 and VAPB genes …
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Analysis of The Demographics, Pathways to Diagnosis, Burden of Disease and Long-term Outcomes of Patients with Spinal Muscular Atrophy Managed at Red Cross War Memorial Children's Hospital
Spinal muscular atrophy (SMA) is an autosomal recessive disorder of anterior horn cell degeneration which results in symmetrical muscle weakness that affects multiple systems. This study was conducted to determine the burden of disease of SMA on children under the neuromuscular service at Red Cross …
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Identifizierung und Charakterisierung des krankheitsauslösenden Gens in einem Mausmodell für humane Motoneuronerkrankungen
… diseases of the first motoneuron (e.g. spastic spinal paralyses), the second motoneuron (e.g. spinal muscular atrophy) and diseases under participation of both systems (e.g. amyotrophic lateral sclerosis). Insights into the underlying pathomechanism were gained through the identification of …
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Biochemical and Functional Characterization of Novel RNA-binding Proteins Interacting with SMN in Motor Neuron-derived Cells
Spinal muscular atrophy is an autosomal recessive genetic disease that results from the loss and/or degeneration of alpha motor neurons in the lower part of the spinal cord. With ~ 1 in 6000 live births per year being affected, this disease is the second leading cause of infant death and is caused …
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Structural and Functional Studies of ASCC1 in DNA and RNA Alkylation Damage Response
… mutations link ASCC1 loss of function to spinal muscular atrophy with congenital bone fractures 2 (SMABF2). The Cancer Genome Atlas (TCGA) analysis suggests that ASCC1 RNA overexpression in tumors correlates with poor survival, Signature 3 mutations, and genetic instability markers. We …
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