Дисертації з теми "ALS Amyotrophic"
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Tjust, Anton. "Extraocular Muscles in Amyotrophic Lateral Sclerosis." Doctoral thesis, Umeå universitet, Anatomi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-129638.
Повний текст джерелаAmyotrofisk lateralskleros (ALS) är en obotlig neurodegenerativ sjukdom som främst påverkar kroppens viljestyrda motoriska nervceller. ALS leder till förlamning, muskelförtvining och slutligen döden genom andningssvikt, vanligen inom tre till fem år efter sjukdomsdebuten. Av okända anledningar så bibehålls ögonmusklernas funktion mycket bättre vid ALS i jämförelse med andra muskler och är hos merparten av patienter i stort sett opåverkade. Ögonmusklerna är mycket specialiserade muskler som skiljer sig från andra muskler i kroppen på flera sätt, bland annat genom deras unika nervförsörjning och genom de satellitceller – muskelspecifika stamceller, som finns i dem. En ökad förståelse för hur dessa faktorer inverkar på ögonmusklernas motståndskraft vid ALS skulle kunna ge värdefulla ledtrådar till hur man skulle kunna sakta ned sjukdomens fortskridande i andra muskler vid ALS. Ögonmuskler och extremitetsmuskler från avlidna ALS-patienter och åldersmatchade friska kontroller, tillsammans med transgena möss med den sjukdomsalstrande mutationen SOD1G93A, studerades genom immunfluorescens och efterföljande mikroskopering. Antikroppar mot molekylerna Pax7, NCAM, MyoD, myogenin, Ki-67, laminin och dystrofin användes för att identifiera satellitceller och deras dotterceller i ögonmuskler och extremitetsmuskler. Antikroppar mot neurofilament och synaptofysin användes för att identifiera nerver och neuromuskulära synapser hos transgena SOD1-möss. Antikroppar mot toniska (tonic) och ryckande (twitch) muskelmyosinkedjor användes för att bestämma proportionen av och storleken på dessa typer av muskelfibrer i ögonmuskler från avlidna ALS-patienter och friska kontroller. Mängden satellitceller varierade mellan de främre och de mer bakre delarna i friska, humana ögonmuskler och var dubbelt så många i den främre delen av muskeln jämfört med den mellersta och bakre delen av muskeln. Celler som uttryckte satellitcellsmarkören Pax7 hittades även i icke-traditionella satellitcellspositioner i ögonmusklerna. Mängden satellitceller i ögonmusklerna från ALS-patienter var samma som hos friska kontroller. I extremitetsmusklerna hos ALS-patienter varierade mängden satellitceller mellan låga nivåer (liknande de hos friska åldrade, inaktiva individer) till höga nivåer, särskilt i muskler där sjukdomen fortskridit under lång tid. Dessutom varierade mängden satellitceller mellan övre och nedre extremiteter. Hos symptomatiska SOD1G93A-möss hade ögonmusklerna en mycket välbevarad innervation jämfört med bakbensmusklerna, där många neuromuskulära synapser saknade kontakt mellan nerven och motorändplattan. Proportionen muskelfibrer med toniska muskelmyosinkedjor var lägre hos ALS-patienter jämfört med friska kontroller. Denna minskning var tydligare hos patienter där sjukdomssymtomen hade debuterat i tugg- och ansiktsmuskulaturen – så kallad bulbär ALS. Dessutom fanns det i den här gruppen, men ingen annan studerad grupp, en stark korrelation mellan nedgången i toniska fibrer och patientens ålder. Värt att notera är att minskningen av toniska muskelfibrer saknade korrelation med hur länge patienten hade varit sjuk i ALS. Den generellt välbevarade innervationen i ögonmusklerna hos SOD1G93A-möss kan spegla distinkta inneboende egenskaper hos ögonmusklerna som är av vikt för bevarandet av ögonrörligheten vid ALS. Gällande satellitceller så antyder våra data att satellitceller och deras regenerativa kapacitet spelar en försumbar roll vid ALS i allmänhet och vid ögonmusklernas bevarande i synnerhet. Slutligen, även om ögonmuskler generellt är välbevarade vid ALS så är toniska muskelfibrer märkbart påverkade och detta kan spegla skillnader mellan olika nervcellsgruppers känslighet vid ALS.
Rahmani, Kondori Nazanin. "Developing and testing therapies for Amyotrophic Lateral Sclerosis (ALS)." Thesis, Imperial College London, 2013. http://hdl.handle.net/10044/1/34340.
Повний текст джерелаXu, Guang. "Identification of Novel Genetic Variations for Amyotrophic Lateral Sclerosis (ALS)." eScholarship@UMMS, 2018. https://escholarship.umassmed.edu/gsbs_diss/958.
Повний текст джерелаKasi, Patrick K. "Characterization of motor unit discharge rate in patients with amyotrophic lateral sclerosis." Worcester, Mass. : Worcester Polytechnic Institute, 2009. http://www.wpi.edu/Pubs/ETD/Available/etd-050409-062647/.
Повний текст джерелаMorimoto, Emiko. "The Role of Microglia in Amyotrophic Lateral Sclerosis: Analysis of MicroRNAs." Thesis, Harvard University, 2012. http://dissertations.umi.com/gsas.harvard:10155.
Повний текст джерелаJacoby, Adam M. "The Role of Nitric Oxide and Nitroxidative Stress in Amyotrophic Lateral Sclerosis." Ohio University / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=ohiou1273265480.
Повний текст джерелаFigueiredo, Joana Maria Serra de Oliveira Duarte. "The role of microRNAs in amyotrophic lateral sclerosis." Master's thesis, Faculdade de Ciências e Tecnologia, 2011. http://hdl.handle.net/10362/7991.
Повний текст джерелаMicroRNAs (miRNAs) are emerging as a primary mediator of gene regulation in many different cell types. There is increasing evidence that specific subsets of miRNA play a prominent role in the nervous system, both in development and in specific neurodegenerative diseases. This study aims to elucidate the role of microRNA in selective motor neuron death that is the hallmark of amyotrophic Lateral sclerosis (ALS). Pre-symptomatic time-point was chosen since the levels of miRNAs are highly likely to be altered as a secondary consequence of cell injury and death in ALS. Laser capture microdissection (LCM) was used to study miRNA profiles in motor neurons of spinal cord tissue from SOD1G93A mice, the best characterized model of ALS. In preliminary work, using miRNA specific chips we have identified 2 miRNAs which are dramatically upregulated before disease onset. In this study, high RNA quality was achieved from laser captured cells, which consist in a major advance towards obtaining meaningful results of these miRNAs expression in downstream applications. Despite LCM technology has become increasingly sophisticated; rapidly obtaining enough amount of starting material for downstream applications is still extremely challenging. The combination of this optimized technique with microarrays, followed by RT-qPCR may provide insights into potential contribution of microRNAs to progression of neurodegeneration of motor neurons in ALS.
Proudfoot, Malcolm. "Cortical neurophysiology of ALS." Thesis, University of Oxford, 2016. https://ora.ox.ac.uk/objects/uuid:5b8673f7-8eb2-4bf2-b3b8-d901fa134007.
Повний текст джерелаBurrell, Kathleen Ann. "The role of pathogenic SOD1 mutations in neuronal cell death in amyotrophic lateral sclerosis." Thesis, King's College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.313992.
Повний текст джерелаWootz, Hanna. "Amyotrophic Lateral Sclerosis – A Study in Transgenic Mice." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7342.
Повний текст джерелаEkegren, Titti. "Transmethylation, Polyamines and Apoptosis in Amyotrophic Lateral Sclerosis." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2004. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3952.
Повний текст джерелаWagner, Karin Nicole. "Amyotrophic Lateral Sclerosis and Genetic Testing: A Perspective from the ALS Community." The Ohio State University, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=osu1459354988.
Повний текст джерелаKlepek, Holly N. "Genetic testing in Amyotrophic Lateral Sclerosis: A Survey of ALS Clinicians and Commercial Testing Laboratories." The Ohio State University, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=osu1523829253204339.
Повний текст джерелаBergmann, Friederike. "Mitochondrial metabolism in hypoglossal motoneurons from mouse implications for amyotrophic lateral sclerosis (ALS) /." Doctoral thesis, [S.l.] : [s.n.], 2004. http://deposit.ddb.de/cgi-bin/dokserv?idn=975113429.
Повний текст джерелаForsberg, Karin. "Misfolded superoxide dismutase-1 in sporadic and familial Amyotrophic Lateral Sclerosis." Doctoral thesis, Umeå universitet, Patologi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-47550.
Повний текст джерелаForrest, Stuart Gordon. "Increased levels of phosphoinositides cause neurodegeneration in a Drosophila model of amyotrophic lateral sclerosis." Thesis, University of Edinburgh, 2013. http://hdl.handle.net/1842/8096.
Повний текст джерелаPettit, Lewis David. "White matter integrity, executive dysfunction, and processing speed in amyotrophic lateral sclerosis." Thesis, University of Edinburgh, 2014. http://hdl.handle.net/1842/9843.
Повний текст джерелаZetterström, Per. "Misfolded superoxide dismutase-1 in amyotrophic lateral sclerosis." Doctoral thesis, Umeå universitet, Klinisk kemi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-43898.
Повний текст джерелаLee, Rena J. "Study of trace and minor elements in ALS (amyotrophic lateral sclerosis) patients." Thesis, Massachusetts Institute of Technology, 1994. http://hdl.handle.net/1721.1/36492.
Повний текст джерелаAbabneh, Nidaa. "Modelling of amyotrophic lateral sclerosis (ALS) using induced pluripotent stem cells (iPSC)." Thesis, University of Oxford, 2017. https://ora.ox.ac.uk/objects/uuid:b0e48523-2acc-4c1e-83a5-79696cbaf042.
Повний текст джерелаTorres, Cabestany Pascual. "Cell Stress and RNA Splicing in Amyotrophic Lateral Sclerosis: Novel Opportunities for Therapeutic Development." Doctoral thesis, Universitat de Lleida, 2021. http://hdl.handle.net/10803/671440.
Повний текст джерелаLa ELA es una enfermedad neurodegenerativa multifactorial. Dado que actualmente es una enfermedad incurable sin una causa conocida, los esfuerzos para descubrir nuevas dianas terapéuticas están bien justificados. La evidencia disponible indica que la fisiopatología de la ELA puede estar compuesta parcialmente de interacciones entre alteraciones de lípidos, estrés oxidativo, deslocalización de TDP-43 y metabolismo del ARN. Para explorar el impacto de la deslocalización de TDP-43, cuantificamos por primera vez el splicing críptico derivado de la disfunción de TDP-43 en tejido humano, modelos celulares y ratones. Los exones crípticos son candidatos a biomarcadores en la ELA, y los cuantificamos en otras patologías relacionadas con alteraciones de TDP-43, como la demencia tipo Alzheimer-LATE. Uno de los ARNm controlados por TDP-43 codifica para ATG4B, una proteína esencial en la formación de la maquinaria de membrana de la autofagia. Por otro lado, las membranas del sistema nervioso central están enriquecidas en ácidos grasos poliinsaturados (PUFA), muy sensibles al estrés oxidativo. Las publicaciones anteriores del grupo demuestran una disminución en el ácido docosahexaenoico (DHA) -un PUFA- en la médula espinal de los donantes de ELA. El DHA es un regulador crucial de la inflamación y se ha relacionado con enfermedades neurodegenerativas relacionadas con la edad. Esta tesis muestra que la intervención dietética puede aumentar eficazmente el contenido de DHA de la médula espinal mediante el uso de una dieta enriquecida con DHA, que tiene un efecto beneficioso en la supervivencia de los ratones transgénicos machos. Esta mejora se asoció con una disminución de los marcadores inflamatorios y de daño del ADN. Debido a que se observa un daño en el ADN similar y un perfil de liberación de citocinas en el perfil secretor asociado a la senescencia (SASP) en la neuroinflamación, también examinamos el papel potencial de la senescencia en la ELA. Detectamos niveles aumentados de marcadores SASP y signos de senescencia celular (expresión aumentada de p16-INK y p21) en etapas presintomáticas y sintomáticas en la médula espinal de los ratones hSOD1-G93A. Sin embargo, el tratamiento senolítico con Navitoclax (un inhibidor de Bcl-2) no ofreció ningún beneficio en la supervivencia de los ratones ni una disminución de los niveles de expresión de genes de senescencia celular y marcadores SASP. También demostramos que el splicing críptico aumenta en ratones hSOD1-G93A en la etapa final y se correlaciona con el marcador de senescencia p16-INK. Por último, para mejorar el potencial de transferencia, exploramos las alteraciones del splicing críptico y cambios metabolómicos como potenciales biomarcadores periféricos. Desafortunadamente, los exones crípticos medidos en tejido nervioso no se expresan en células mononucleares de sangre periférica. No obstante, los análisis del metaboloma plaquetario revelaron cambios significativos en los enfoques de casos-controles y de pronóstico. En conclusión, esta tesis destaca los hallazgos novedosos relacionados con posibles intervenciones dietéticas y senolíticos, y propone nuevos biomarcadores metabolómicos y transcriptómicos.
ALS is a multifactorial neurodegenerative disease. As it is currently an incurable disease without a known cause, the efforts in discovering novel targets are well justified. Available evidence indicates that ALS pathophysiology can be partially comprised of interactions between lipid alterations, oxidative stress, TDP-43 mislocalization, and RNA metabolism. In order to explore the impact of TDP-43 mislocalization, we quantified for the first time the cryptic exon splicing derived from TDP-43 dysfunction in human tissue, cell models, and mice. Cryptic exons are candidate biomarkers in ALS, and we quantified them in other pathologies related to TDP-43 disturbances, such as the Alzheimer-LATE type dementia. One of the TDP-43 controlled mRNAs is codifying for ATG4B, an essential protein at the build-up of autophagy's membranal machinery. On the other hand, the central nervous system membranes are enriched in polyunsaturated fatty acids (PUFAs), which are very sensitive to oxidative stress. The group's previous publications indicated a decrease in docosahexaenoic acid (DHA) -a PUFA- in ALS donors' spinal cord. DHA is a crucial regulator of inflammation and has been implicated in age-related neurodegenerative diseases. This thesis shows that dietary intervention can effectively increase DHA content of the spinal cord by using a DHA enriched diet, which has a beneficial effect on male survival time. This improvement was associated with decreased inflammatory and DNA damage markers. Because a similar DNA damage and cytokine release profile are seen in senescence-associated secretory profile (SASP) in neuroinflammation, we also examined the potential role of senescence in ALS. We detected increased levels of SASP markers and signs of cell senescence (increased expression of p16-INK and p21) in pre- and symptomatic stages in the hSOD1-G93A ALS spinal cord. However, a senolytic treatment with Navitoclax (a Bcl-2 inhibitor) did not offer any benefit in mice survival nor a decreased level of cell senescence and SASP markers. We also demonstrate that cryptic exon splicing is increased in the hSOD1-G93A ALS model at the end-stage, and it is correlated with senescence marker p16-INK mRNA. Finally, to enhance transference potential, we explored both metabolomic and cryptic exon splicing alterations in peripheral biomarkers. Unfortunately, cryptic exons measured in nervous tissue are not expressed in peripheral blood mononuclear cells. Notwithstanding, platelet metabolome analyses revealed significant changes in case-control and prognostic approaches. Globally, this thesis highlights novel findings related to potential dietary interventions, open the door for new therapeutic agents such as senolytic and propose new metabolomics and transcriptomic biomarkers.
Highlander, Morgan Michelle. "Electroceutical Therapy in Amyotrophic Lateral Sclerosis: A Novel Preliminary Study." Wright State University / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=wright1530099548144113.
Повний текст джерелаJonsson, P. Andreas. "Superoxide dismutase 1 and amyotrophic lateral sclerosis." Doctoral thesis, Umeå : Medical Biosciences, 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-611.
Повний текст джерелаSchmidt, Eric J. "Investigation of a Misfolded, Destabilized Profilin-1 Species as a Toxic Molecule in ALS Pathogenesis." eScholarship@UMMS, 2019. https://escholarship.umassmed.edu/gsbs_diss/1043.
Повний текст джерелаKebe, Aicha R. "Characterization of Mechanisms for Suppressing Toxicity of ALS-Associated Protein FUS." Wright State University / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=wright15669286599466.
Повний текст джерелаBergemalm, Daniel. "Mutant superoxide dismutase-1-caused pathogenesis in amyotrophic lateral sclerosis." Doctoral thesis, Umeå : Umeå university, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-31116.
Повний текст джерелаToro, Gabriela. "Gene Therapy for Amyotrophic Lateral Sclerosis: An AAV Mediated RNAi Approach for Autosomal Dominant C9ORF72 Associated ALS." eScholarship@UMMS, 2019. https://escholarship.umassmed.edu/gsbs_diss/1020.
Повний текст джерелаJackson, Mandy. "Screening of familial and sporadic amyotrophic lateral sclerosis patients for mutations in CuZn superoxide dismutase (SOD-1) and other candidate genes." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.363787.
Повний текст джерелаKim, Soo Hyun. "Gene therapy demonstrates that muscle is not a primary target for non-cell autonomous toxicity in familial ALS." Columbus, Ohio : Ohio State University, 2006. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1164829314.
Повний текст джерелаSanhueza, Cubillos Mario Andrés. "Identification of novel genes interacting with DVAP, the causative gene of ALS8 in humans." Thesis, University of Edinburgh, 2015. http://hdl.handle.net/1842/21080.
Повний текст джерелаWatermeyer, Tamlyn Julie. "Emotional processing and social cognition in Amyotrophic Lateral Sclerosis (ALS)/Motor Neuron Disease (MND)." Thesis, King's College London (University of London), 2014. https://kclpure.kcl.ac.uk/portal/en/theses/emotional-processing-and-social-cognition-in-amyotrophic-lateral-sclerosis-als--motor-neuron-disease-mnd(e3552e39-2127-40a8-8035-357b66edd75d).html.
Повний текст джерелаCrockford, Christopher James. "Neuropsychological functioning across the ALS disease course and its assessment." Thesis, University of Edinburgh, 2018. http://hdl.handle.net/1842/33135.
Повний текст джерелаFrakes, Ashley E. "The Role of Neuroinflammation in the Pathogenesis of Amyotrophic Lateral Sclerosis." The Ohio State University, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=osu1417649954.
Повний текст джерелаGallart, Palau Xavier Ramon. "Synaptic frailty and mitochondrial dysfunction in familial amyotrophic lateral sclerosis." Doctoral thesis, Universitat de Lleida, 2016. http://hdl.handle.net/10803/386410.
Повний текст джерелаLa Esclerosis Lateral Amiotrófica (ELA) es una enfermedad neurodegenerativa de la motoneurona. Todas las motoneuronas se ven afectadas desde la corteza motora primaria hasta la unión neuromuscular. En 1993 la descubierta de mutaciones en el gen SOD1 abrió nuevos límites experimentales con la creación de los primeros roedores transgénicos para esta enfermedad. Desde ese momento y hasta la actualidad, la mutación más estudiada en la ELA ha sido la mutación SOD1-G93A. Los modelos transgénicos de esta mutación han revelado mecanismos esenciales de la neurodegeneración en la ELA, incluyendo la excitotoxicidad, la disfunción proteica y la degeneración axosináptica entre otras. En este trabajo hemos explorado los cambios moleculares que tienen lugar en los terminales C, unos terminales altamente especializados de las α-motoneuronas, en un modelo murino de ELA con la mutación SOD1-G93A. Además, también hemos focalizado nuestra atención sobre la relación patológica que se establece en la ELA familiar (ELAF) entre la mutación SOD1-G93A y las mitocondrias. En relación a los terminales C durante la ELAF, hemos encontrado cambios asociados con la aparición de síntomas, como por ejemplo el incremento de la expresión del factor neurotrófico Neuregulina-1, localizado por primera vez en la cisterna subsináptica de los terminales C. La Neuregulina-1 en esas estructuras de retículo endoplasmático fue observada dentro de vesículas extracelulares (VEs), sugiriendo que el análisis de la Neuregulina-1 dentro de VEs en la ELA resulta especialmente prometedor como biomarcador potencial para esta enfermedad. Así, nosotros hemos desarrollado también un nuevo método para purificar VEs, dado que este es un paso esencial previo al estudio de las proteínas asociadas con estas estructuras. Nuestro método aplicado a la purificación de VEs de tejidos complejos fue capaz de facilitar la identificación de la Neuregulina en VEs provenientes de tejidos clínicos y fluidos biológicos. En relación a las implicaciones de la mitocondria en la ELA, hemos encontrado que la mutación SOD1-G93A estabiliza la proteína PINK1 en las mitocondrias activando el factor nuclear NFκB en neuronas. La interacción secuencial entre la SOD1 mutante y el NFκB crea una clara disfunción sobre la capacidad proteolítica del proteosoma, la cual a su vez promueve co-agregación de la SOD1 mutante y PINK1 en estas células. Estos resultados suman un sustancial conocimiento mecanístico sobre los roles de la mitocondria en eventos degenerativos clásicos de la ELA, como es la agregación de proteínas disfuncionales en motoneuronas. Siguiendo nuestro estudio de la afectación mitocondrial en la ELA, hemos creado y caracterizado un nuevo modelo de Drosophila que expresa la mutación humana SOD1-G93A en fibras musculares torácicas bajo el promotor 24B. Este modelo de Drosophila transgénica recapitula con éxito en fenotipo mitocondrial característico de la ELA presentando importantes ventajas para la elección de nuevos compuestos terapéuticos. En definitiva, los resultados generados en esta tesis proporcionan evidencia experimental, extensa comprensión molecular y insinúan nuevos horizontes terapéuticos acerca de los mecanismos moleculares y eventos neurodegenerativos asociados con la disfunción sináptica y la disfunción mitocondrial en la ELAF.
Amyotrophic Lateral Sclerosis (ALS) is an orphan age-associated neurodegenerative disease. All motoneurones in ALS are affected by degenerative flow from the primary motor cortex to the neuromuscular junction. In 1993, mutations of the gene SOD1 opened new research avenues allowing for the generation of familial ALS experimental models in rodents. Since then, the FALS mutation SOD1-G93A has been extensively studied worldwide in ALS to date. Transgenic models for this SOD1 mutation have revealed essential mechanisms of neurodegeneration including excitotoxicity, proteinopathy and axosynaptic degeneration among others. In this dissertation, we explored the molecular changes that occur in C-terminals, a very specialised synapse type from α-motoneurones of SOD1-G93A rodents. Also, we focused on the pathological relationship between the FALS mutant SOD1-G93A and mitochondria in motoneurones. With regard to C-terminals in FALS motoneurones, we found changes that were symptomatically associated with the up-regulated expression of the neurotrophic factor Neuregulin-1 located for the first time in the subsurface system of C-boutons juxtaposed to α-motoneurones. Furthermore, Neuregulin-1 in these endoplasmic reticulum structures was observed inside extracellular vesicles, suggesting that analysis of Neuregulin-1 from extracellular vesicles in ALS holds promise as a potential reliable biomarker for that neurodegenerative disease. We therefore have developed a new method for isolation of extracellular vesicles, as this remains as an essential step for the study of molecules associated with these structures. Our method applied to purify extracellular vesicles from complex biological tissues was able to facilitate the identification of Neuregulin-1 in extracellular vessicles from clinical tissues and biological fluids. Regarding implications of mitochondria in ALS, we have found that the FALS mutant hSOD1-G93A stabilises PINK1 in mitochondria and subsequently activates NFκB in neuronal cells. Sequential interaction between hSOD1 and NFκB impairs the proteosome proteolitic function promoting co-aggregation of SOD1 and PINK1 in these cells. These results add substantial mechanistic insight on the roles of mitochondria in classical ALS-associated neurodegenerative events, including aggregation of dysfuntional proteins in motoneurones. Following our study of mitochondria affectation in ALS, we have created and characterised a novel Drosophila model that expresses human SOD1-G93A in thoracic muscles under the genetic muscular promoter 24B. Flies expressing human SOD1-G93A in thoracic muscles successfully recapitulate FALS mitochondrial phenotype with several advantages in front of the current available rodent models for this FALS mutation. Taken together, the results generated in this thesis provide experimental evidence, further molecular comprehension and promise novel therapeutic approaches to the molecular mechanisms and neurodegenerative events associated with synaptic frailty and mitochondrial disfunction in FALS.
Helmersson, Katarina, and Ingrid Järpfält-Svensson. "ALS : Upplevelser av att leva med ALS." Thesis, Högskolan i Borås, Institutionen för Vårdvetenskap, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:hb:diva-19346.
Повний текст джерелаProgram: Fristående kurs
Olander, Carolina, and Anette Schoberg. "Patienters upplevelser av att leva med amyotrofisk lateralskleros." Thesis, Högskolan i Halmstad, Akademin för hälsa och välfärd, 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:hh:diva-36889.
Повний текст джерелаWorkinger, Paul M., and Paul M. Workinger. "Familial Amyotrophic Lateral Sclerosis with a focus on C9orf72 Hexanucleotide GGGGCC Repeat Expansion Associated ALS with Frontotemporal Dementia." Thesis, The University of Arizona, 2017. http://hdl.handle.net/10150/625350.
Повний текст джерелаCamara, Mafalda Dias de Medeiros Vale da. "Coherence and phase locking disruption in electromyograms of patients with amyotrophic lateral sclerosis." Master's thesis, Faculdade de Ciências e Tecnologia, 2013. http://hdl.handle.net/10362/10950.
Повний текст джерелаIn motor neuron disease, the aim of therapy is to prevent or slow neuronal degeneration and early diagnosis is thus essential. Hypothesising that beta-band (15-30 Hz) is a measure of pathways integrity as shown in literature, coherence and PLF could be used as an electrophysiological indicator of upper and lower neuron integrity in patients with ALS. Before further analysis, synthetic EMG signals were computed to verify the used algorithm. Coherence and PLF analyses were performed for instants of steady contraction from contra and ipsilateral acquisitions. Ipsilateral acquisitions were performed for one member of each group and results present significant differences between both groups. Contrarily, contralateral acquisitions were performed on 6 members of each group and results present no significant differences. PLF analysis was computed for ipsilateral acquisitions and, similarly to coherence, results show significant differences between both groups. PLF was also analysed for contralateral acquisitions, and results show no significant differences within groups, as expected since no coherence was found for the same acquisitions. So, while control subjects present no neuronal or muscular problems and therefore higher synchrony and coherence for beta-band frequencies, patients with ALS do not present synchronism or coherence in any frequency, specially for beta-band. All results allowed to conclude that contralateral coherence is not a good measure of corticospinal pathways integrity. However, ipsilateral acquisitions show promising results and it is possible to affirm that ipsilateral measurements may reflect neuronal degeneration. For future work is suggested a deeper analysis of PLF, that appear to have potential as a quantitative test of upper and lower neuron integrity related to ALS.
Ekholm, Regina Johansson Zandra. "ALS - bokstäverna som förändrar livet." Thesis, Linnéuniversitetet, Institutionen för hälso- och vårdvetenskap (HV), 2019. http://urn.kb.se/resolve?urn=urn:nbn:se:lnu:diva-79816.
Повний текст джерелаChatzoudis, Susanne, and Anette Wikström. "Personers erfarenheter av att leva med ALS : En beskrivande litteraturstudie." Thesis, Högskolan i Gävle, Avdelningen för hälso- och vårdvetenskap, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:hig:diva-22829.
Повний текст джерелаBackground: Amyotrophic lateral sclerosis (ALS) belongs to a group of motor neuron diseases. It is an incurable neurological disease that affects approximately 200 people per year in Sweden. The involuntary muscles of the body atrophies which causing the person problems to speak and breath. The disease progression varies depending on the version of motor neuron disease the person suffering, at ALS person usually dies within 5 years. Aim: The purpose of this study was to describe people's experiences of living with ALS and describe the study group of the included scientific articles. Method: A descriptive literature study consisting of 11 qualitative articles. Main Results: Some patients were not satisfied with the hospital care, they were met by ignorant staff and were sent between different care units before a diagnosis could be decided. At the end the patients themselves were searching for answers themselves. Patients describe several negative feelings diagnosed with ALS. During the progression of the disease even positive emotions came and encouraged the patients continue to struggle. Patients used different strategies like existential thoughts, acceptance of aid and help from outside caregiver. Support from family and friends were important to cope with the disease and the expected death. Conclusions: People who suffer from ALS experienced an emotional roller coaster, which commuted between positive and negative feelings. For many patients, it was important to take one day at a time to find meaningfulness. The experience from the illness is individual from ALS and it is important that the nurse uses the person-centered care. It is important that the nurse learn from the patients and relatives experience to preserve the integrity and autonomy.
Parry, Katherine Elizabeth. "Investigation of the interactions of DVAP-33A, the orthologue of human VAPB." Thesis, University of Edinburgh, 2011. http://hdl.handle.net/1842/5538.
Повний текст джерелаMurphy, Matthew M. "Investigating the Effects of CyPPA on Small-Conductance Calcium-Activated Potassium Channels in SOD1G93A Transgenic Mouse Model." Wright State University / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=wright1589929963490428.
Повний текст джерелаPatel, Anjali. "An Integrated Proteomic Approach for Mapping the ALS-linked TDP-43 Interactome." Thesis, Université d'Ottawa / University of Ottawa, 2021. http://hdl.handle.net/10393/42687.
Повний текст джерелаNygren, Ingela. "ALS - a clinical thesis /." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4804.
Повний текст джерелаEnglund, Sandra, and Thèrése Mårtensson. "Livskvalitet hos personer med Amyotrofisk lateralskleros (ALS) - En litteraturstudie." Thesis, University of Gävle, Department of Caring Sciences and Sociology, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:hig:diva-749.
Повний текст джерелаSyftet med denna studie var att beskriva hur människor med Amyotrofisk lateralskleros (ALS) upplever sin livskvalitet. Metoden som användes var en litteraturstudie med beskrivande design. Olika kombinationer av sökorden ”ALS”, ”amyotrophic lateral sclerosis” ”quality of life”, och ”människor” användes vid sökning i databaserna Medline (PubMed) och Science Direct. Totalt analyserades tretton vetenskapliga artiklar som sedan kvalitetsbedömdes och kategoriserades i fyra kategorier: fysisk, psykisk, social och existentiell livskvalitet. Forskning kring de fysiska aspekterna av livskvalitet visade att det främst är den nedsättande funktionsförmågan och begränsningarna relaterade till sjukdomen som bidrar till det fysiska lidandet. Med tiden ändrades patienternas intressen från mer aktiva till passiva. Till skillnad från detta var upplevelsen av det psykiska lidandet mycket låg. Resultat tillhörande den sociala aspekten visade att patienternas förhållande med familj och vänner var av störst värde för att uppleva livskvalitet samt det främsta stödet för att bemästra de svårigheter som sjukdomen medför. Patienternas religiösa tro och tillgång till präst var av betydande roll vad gällande bemästringen av existentiella frågor och funderingar.
The purpose of this study was to describe how people with Amyotrophic lateral sclerosis (ALS) experience their quality of life. The method used was a study of literature with design description. A various combination of search words, such as “amyotrophic lateral sclerosis”, “ALS”, “quality of life” and “people” were used in searching the computer bases Medline (Pubmed) and Science Direct. In total, thirteen scientific articles were analysed and quality tested, subsequently they were categorized into four categories: physical, mental, social and existential quality of life. Research into the physical aspects surrounding the quality of life showed that it is, above all, the disparaging functional capabilities and restrictions related to the illness which causes the mental suffering. In time, the patients interests changed from active to passive. In contrast to this, the experience of mental suffering was very low. Results of the studies into the social aspects showed that the patients relationship with family and friends was of the greatest value to quality of life, as well as the foremost support towards conquering the difficulties which the illness causes. The patients religious beliefs and access to a priest, play a significant part regarding the conquering of existential questions and thoughts.
Teyssou, Elisa. "Analyses génétiques et fonctionnelles de nouveaux gènes incriminés dans la Sclérose Latérale Amyotrophique (SLA) Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients." Thesis, Paris 6, 2017. http://www.theses.fr/2017PA066738.
Повний текст джерелаThe fatal Amyotrophic Lateral Sclerosis (ALS) motor neuron disease is characterized by the degeneration of upper and lower motor neurons. Most ALS cases are sporadic (SALS) whereas ~10% are familial (FALS). A growing number of genes has been identified in ALS and represent 70% of FALS and 10% of SALS. The aims of this project were to analyze the contribution of 6 rare genes in a large population of French ALS patients and to study the pathogenic impact of some identified variants.The first part of this work was dedicated to the genetic analysis of MATR3, CHCHD10, SS18L1, SQSTM1, UBQLN2 and PFN1 genes. No causing variants were identified for MATR3 and CHCHD10 while 2 new variants, probably pathogenic, were identified for SS18L1, as well as 4 mutations for SQSTM1, 5 for UBQLN2 and 2 already reported mutations for PFN1. These analyses also highlighted a genetic overlap between ALS and other diseases: the Paget disease of bone for SQSTM1 and spastic paraplegia for UBQLN2. The second part of this work was to study the pathogenicity of some of the mutations identified in SQSTM1, UBQLN2 and PFN1 genes using analyses of (i) inclusions in ALS patient post-mortem tissue, (ii) protein expression and degradation pathways in patient lymphoblasts and/or (iii) cellular consequences after in vitro and in vivo overexpression. Our results showed prominent aggregation of mutant SQSTM1 (involved in autophagosomes formation), impaired lysosomal degradation and disrupted protein binding to HSP70 for mutant UBQLN2 and deregulated alternative autophagy and mitophagy pathways for mutant PFN1. Our results (i) precised the contribution of several genes in French ALS patients, (i) documented the genetic overlap between ALS and other diseases and (iii) highlighted the role of protein degradation pathways, especially autophagy, in the pathogenesis of ALS
Edbladh, Sara, and Sofia Johnsson. "Att leva med ALS : en litteraturstudie." Thesis, Högskolan Kristianstad, Sektionen för hälsa och samhälle, 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:hkr:diva-12306.
Повний текст джерелаBackground: Amyotrophic lateral sclerosis is a neurological disorder and in Sweden it affects about 200 people each year. The disease is progressive and makes the affected person lose bodily functions and usually dies within five years. Working with people who have a terminal illness requires not only knowledge of the disease, but also about how people experience living with the disease. Objective: The objective was to describe people's experiences of living with Amyotrophic lateral sclerosis. Method: A general literature review based on nine scientific articles was conducted. The analysis was done by a manifest content analysis. Results: Five categories presents the experiences of living with ALS. These are called A body in change, Relationships with others are affected, Hope & hopelessness, Control & loss of control and The existence challenged. Conclusion: People living with ALS often experience negative emotions which affected their quality of lifein a negative direction. Positive emotions associated with the disease was noticed in a lesser extent. To be able to reach a satisfactory care with basis in the individual experiences, there is a need for more research on the subject. More knowledge about how the disease is experienced increase the chances for the staff to meet them in their individual needsand therefore, the individual's well-being during the disease progression increase.
Komatsu, Kenichi. "Overexpressed wild-type superoxide dismutase 1 exhibits amyotrophic lateral sclerosis-related misfolded conformation in induced pluripotent stem cell-derived spinal motor neurons." Kyoto University, 2018. http://hdl.handle.net/2433/232077.
Повний текст джерелаCone, Alan J. "Fission Yeast as a Model Organism for FUS-Dependent Cytotoxicity in Amyotrophic Lateral Sclerosis." Wright State University / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=wright1470750088.
Повний текст джерелаAndersson, Sofia, Amanda Appelquist, and Emelia Fast-Bremberg. "Att vara beroende av hjälp vid ALS : En studie av bloggar och biografier." Thesis, Högskolan Kristianstad, Sektionen för hälsa och samhälle, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:hkr:diva-9078.
Повний текст джерелаBackground: Amyotrophic lateral sclerosis (ALS) is a motor neuron disease that breaks down the muscles of the body. This debilitates the functions of the body. In order to get through everyday life the dependence on help from both aids and people increases. Aim: The aim is to elucidate experiences of being dependent on help because of ALS. Method: A qualitative content analysis was used and the data was gathered from blogs and biographies describing persons living with ALS. Results: The result describes following categories: Being dependent on help from aids, relatives, formal helpers and the community. Discussion: The main findings were that persons could feel powerlessness and as if they no longer were involved in their own lives. There was a fear that strangers would involve and take care of the personal needs and because of that feelings of inferiority could occur. Several persons were dissatisfied with the lack of help from the community and the feeling of being questioned often came up.