Relevant bibliographies by topics / Amyotrophic Lateral Sclerosis – therapy / Dissertations / Theses
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Dissertations / Theses on the topic 'Amyotrophic Lateral Sclerosis – therapy'

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Published: 4 June 2021
Last updated: 14 February 2022

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1

Mòdol, Caballero Guillem. "Gene therapy targeting neuregulins for the treatment of amyotrophic lateral sclerosis." Doctoral thesis, Universitat Autònoma de Barcelona, 2019. http://hdl.handle.net/10803/667869.

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L’esclerosi lateral amiotròfica (ELA) és una malaltia neurodegenerativa devastadora sense cap tractament efectiu disponible. Els mecanismes moleculars involucrats en la mort de les motoneurones (MN) són complexos i inclouen nombroses disfuncions d’aquestes, on les cèl·lules del voltant com els astròcits i la micròglia hi poden contribuir. La Neuregulina 1 (NRG1) és un factor neurotròfic expressat en les MNs i les unions neuromusculars que ajuda en el desenvolupament neuromuscular i axonal i en el seu manteniment. Estudis recens suggereixen un rol crucial de la NRG1 i dels seus receptors ErbB e
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2

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.

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3

Lemoignan, Josée. "Decision-making for assisted ventilation in amyotrophic lateral sclerosis." Thesis, McGill University, 2007. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=101862.

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Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease that leads to respiratory compromise and eventually death within two to five years. Even though people with ALS must make many treatment decisions, none has such a significant impact on quality of life and survival as the one pertaining to assisted ventilation. A qualitative research study was undertaken to elicit factors that are pertinent to this decision-making process. Ten individual, semi-structured interviews were conducted with individuals with ALS. Six main themes emerged from the interviews. These are: meaning o
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4

Likhite, Shibi B. "Therapeutic suppression of mutant SOD1 by AAV9-mediated gene therapy approach in Amyotrophic Lateral Sclerosis." The Ohio State University, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=osu1417394084.

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5

Ragancokova, Daniela. "The role of synaptic transmission in the pathophysiology and therapy of neurodegenerative disease, amyotrophic lateral sclerosis." Hannover Bibliothek der Tierärztlichen Hochschule Hannover, 2009. http://d-nb.info/1000125661/34.

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6

Nanou, Aikaterini. "Gene therapy approaches to evaluate neuroprotection from oxidation stress in experimental models of amyotrophic lateral sclerosis." Thesis, University of Sheffield, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.575749.

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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by the loss of upper and lower motor neurons, with no effective treatment to date. Only 5-10% of ALS cases are familial, of which 20% are caused by missense mutations in the gene encoding Cu/Zn superoxide dismutase 1 (SOD I). Although ALS has a multi-factorial aetiology, oxidative stress is hypothesized to be one of the key pathogenic mechanisms. It is thus proposed that manipulation of the expression of anti- oxidant genes may serve as a therapeutic strategy for the protection of motor neurons. It ha
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7

Kim, 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.

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8

Luchesi, Karen Fontes 1984. "Dyphagia in amyotrophic lateral sclerosis and in parkinson¿s disease = A disfagia na esclerose lateral amiotrófica e na doença de Parkinson." [s.n.], 2013. http://repositorio.unicamp.br/jspui/handle/REPOSIP/311989.

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Orientador: Satoshi Kitamura<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-22T11:47:36Z (GMT). No. of bitstreams: 1 Luchesi_KarenFontes_D.pdf: 2231982 bytes, checksum: 2f5ef1dbfa543808275311de510df643 (MD5) Previous issue date: 2013<br>Resumo: A Doença de Parkinson (DP) é uma das doenças neurodegenerativas mundialmente mais prevalentes. Dentre as doenças do neurônio motor, a Esclerose Lateral Amiotrófica (ELA) é a mais frequente. A qualidade de vida e o prolongamento da expectativa de vida dos sujeitos com doença
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9

Toro, 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.

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Amyotrophic lateral sclerosis (ALS) is a terminal neurodegenerative disease that affects motor neurons causing progressive muscle weakness and respiratory failure. In 2011, the presence of a hexanucleotide repeat expansion within chromosome 9 open reading frame 72(C9ORF72) was identified in ALS patient samples, becoming the major known genetic cause for ALS and frontotemporal dementia (FTD). Carriers of this mutation present reduced levels of C9ORF72 mRNA, RNA foci produced by the aggregating expansion and toxic dipeptides generated through repeat-associated non-ATG translation. These findings
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10

Scarrott, Joseph. "Investigating the specificity of RNAi molecules in human gene therapy for SOD1-linked familial amyotrophic lateral sclerosis." Thesis, University of Sheffield, 2018. http://etheses.whiterose.ac.uk/22558/.

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20% of familial amyotrophic lateral sclerosis (fALS) cases are caused by mutations in the gene encoding the cytosolic protein human Cu/Zn superoxide dismutase 1 (hSOD1). RNA interference (RNAi) technology offers the therapeutic potential for the treatment of SOD-linked fALS by reducing the burden of pathogenic mutant SOD1 protein. Translation of this gene therapy strategy to the clinic requires the development of vectors that are free of significant off-target effects and with reliable biomarkers to determine treatment efficacy, successful target gene reduction, and correct dosing. Using self-
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11

Ragancokova, Daniela [Verfasser]. "The role of synaptic transmission in the pathophysiology and therapy of neurodegenerative disease, amyotrophic lateral sclerosis / Daniela Ragancokova." Hannover : Bibliothek der Tierärztlichen Hochschule Hannover, 2009. http://d-nb.info/1000125661/34.

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12

Kyllo, Hannah Marie, and Hannah Marie Kyllo. "Multifactorial Gene Therapy as a Novel Approach for the Treatment of Mutant Superoxide Dismutase-1 Linked Familial Amyotrophic Lateral Sclerosis." Thesis, The University of Arizona, 2017. http://hdl.handle.net/10150/625029.

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Amyotrophic lateral sclerosis is a rapidly progressing disease characterized by the degeneration and death of upper and lower motor neurons, and it is associated with a lifetime risk of 1 in 1000. The disease not only involves damage to the motor neurons themselves but also to neighboring glial cells. Since the characterization of the disease roughly a century and a half ago, few successes have been seen in the development of a treatment plan that yields viable results and prevents neurodegeneration. The shortcomings of past therapies have been attributed to the narrow focus of treatment
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13

Coatti, Giuliana Castello. "Avaliação do potencial terapêutico de pericitos e de células mesenquimais no camundongo SOD1, modelo animal para esclerose lateral amiotrófica." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-14012016-143346/.

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A Esclerose Lateral Amiotrófica (ELA), também conhecida como Doença de Lou Gehrig, é a forma mais comum de doença do neurônio motor. Tem início geralmente tardio (4ª/5ª década de vida), afetando tanto os neurônios motores superiores quanto os inferiores. A degeneração provocada pela ELA é progressiva e irreversível. Em geral, a evolução da doença é rápida, levando os pacientes ao óbito entre 3 e 5 anos após o início dos sintomas, devido principalmente à falência respiratória. Atualmente, o único medicamento liberado pelo FDA (Food and Drug Administration) para o uso em ELA é o Riluzol, que tem
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14

Stoica, Lorelei I. "Gene Therapy for Amyotrophic Lateral Sclerosis: An AAV Delivered Artifical MicroRNA Against Human SOD1 Increases Survival and Delays Disease Progression of the SOD1G93A Mouse Model: A Dissertation." eScholarship@UMMS, 2015. http://escholarship.umassmed.edu/gsbs_diss/813.

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by loss of motor neurons, resulting in progressive muscle weakness, atrophy, paralysis and death within five years of diagnosis. About ten percent of cases are inherited, of which twenty percent are due to mutations in the superoxide dismutase 1 (SOD1) gene. Since the only FDA approved ALS drug prolongs survival by just a few months, new therapies for this disease are needed. Experiments in transgenic ALS mouse models have shown that decreasing levels of mutant SOD1 protein alters and in some cases entirely
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15

Coque, Emmanuelle. "La neuroimmunité dans la sclérose latérale amyotrophique." Thesis, Montpellier, 2017. http://www.theses.fr/2017MONTT095.

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La sclérose latérale amyotrophique (SLA) est une maladie neurodégénérative incurable caractérisée par la perte sélective des motoneurones du cerveau et de la moelle épinière. Elle se manifeste par une faiblesse musculaire qui évolue vers une paralysie, entrainant la mort du patient dans les 3 à 5 ans après l’apparition des symptômes. Une réponse inflammatoire associée à l'accumulation de cellules immunitaire dans le système nerveux central (SNC) est une signature de la SLA. Ce travail propose d'étudier le rôle des cellules résidentes du SNC, notamment les astrocytes, et des cellules immunitair
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16

Zuardi, Marina Campos. "Quantificação da lesão neuronal e mielínica na Esclerose Lateral Amiotrófica através da ressonância magnética." Universidade de São Paulo, 2012. http://www.teses.usp.br/teses/disponiveis/17/17140/tde-30082012-083717/.

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Introdução: A Esclerose Lateral Amiotrófica (ELA) é uma doença degenerativa e progressiva que afeta neurônios motores da medula espinhal, tronco cerebral e/ ou córtex motor. Sua manifestação clínica é bastante variada, sua etiologia desconhecida e a progressão, fatal. Não existe ainda um tratamento curativo para a ELA, porém alguns medicamentos e a realização de fisioterapia podem auxiliar, fornecendo ao paciente uma melhor qualidade de vida. Objetivos: Testar a hipótese de que técnicas quantitativas de Ressonância Magnética (RM) são eficazes para detectar a lesão neuronal no encéfalo de pacie
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17

Trevizan, Isabela Lopes. "Eficácia de diferentes dispositivos de interação em tarefa virtual na esclerose lateral amiotrófica." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/5/5170/tde-21092016-084325/.

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Introdução: A Esclerose Lateral Amiotrófica (ELA) é uma neuronopatia de curso progressivo, caracterizada pela morte dos neurônios motores superiores e inferiores. Devido a rápida progressão da doença e ao aparecimento dos sintomas de incapacidade funcional os indivíduos com ELA buscam uma forma alternativa de comunicação e interação. Com isso, o desenvolvimento tecnológico utilizando programas de realidade virtual com ajuda de dispositivos de interação pode viabilizar mais função e auxiliar indivíduos com ELA a obter autonomia, independência, melhor qualidade de vida e inclusão. Objetivo: Iden
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18

Flowers, Joanna Mary. "Molecular studies in amyotrophic lateral sclerosis." Thesis, King's College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.397027.

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19

Fang, Fang. "Epidemiologic studies of amyotrophic lateral sclerosis." Stockholm, 2010. http://diss.kib.ki.se/2010/978-91-7409-671-2/.

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20

McHenry, Kristen L. "Respiratory Compromise in Amyotrophic Lateral Sclerosis." Digital Commons @ East Tennessee State University, 2017. https://dc.etsu.edu/etsu-works/2539.

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21

Schymick, Jennifer. "The genetics of amyotrophic lateral sclerosis." Thesis, University of Oxford, 2009. http://ora.ox.ac.uk/objects/uuid:f68f15c2-2875-46ba-bf25-8324c1dead91.

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised clinically by rapidly progressive paralysis leading ultimately to death from respiratory failure. There is no cure for ALS and no definitive explanation for the onset and rapid progression of motor neuron degeneration. Genetics is a known risk factor for a portion of familial cases. However, the role of genetics in the commoner sporadic form of the disease is poorly understood, although numerous genes have been implicated. The primary aim of this thesis project is to uncover the genetic causes that underlie
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22

Valbuena, Gabriel. "Metabolomic studies of amyotrophic lateral sclerosis." Thesis, Imperial College London, 2015. http://hdl.handle.net/10044/1/49719.

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Amyotrophic Lateral Sclerosis (ALS) is a relentlessly progressive neurodegenerative disease, and is fatal within 3-5 years of onset. Metabolic dysfunctions have consistently been identified in ALS, although its role in pathogenesis remains unclear. In this thesis, I apply a metabolomic approach using 1H NMR spectroscopy and Gas Chromatography-Mass Spectrometry in a range of disease models of increasing biological complexity, as well as patient tissues, in order to reveal perturbations to the metabolic network that may impact the course of the disease. I examined alterations to metabolism in th
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23

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.

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Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease of motor neurons characterized by muscle paralysis and death within 3-5 years of onset. However, due to unknown mechanisms, the extraocular muscles (EOMs) remain remarkably unaffected. The EOMs are highly specialized muscles that differ from other muscles in many respects, including innervation and satellite cells (SCs). Understanding whether these factors play a role in the relative sparing of EOMs in ALS could provide useful clues on how to slow down the progression of ALS in other muscles. The EOMs and limb muscle
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24

Seals, Ryan M. "Risk Factors for Amyotrophic Lateral Sclerosis." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:23205175.

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Amyotrophic lateral sclerosis (ALS) is a progressive debilitating disease of the upper and lower motor neurons. Median survival of ALS patients is consistently estimated at between 2-3 years from symptom onset, with some evidence that survival is increasing due to improved care. There are few well-established risk factors for ALS, and there is conflicting evidence regarding the trends in ALS incidence and mortality over the past several decades. In Chapter I we investigate the trends in ALS incidence and mortality in Denmark between 1970 and 2009. We employed age-period-cohort models to model
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25

Johnston, Pamela. "Echovirus aetiology in amyotrophic lateral sclerosis." Thesis, Glasgow Caledonian University, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.688246.

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26

Jonsson, 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.

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27

Enayat, Zinat Ellaheh. "Superoxide dismutase mutations and amyotrophic lateral sclerosis." Thesis, King's College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.400500.

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28

Mather, Mary Srikanti. "Putative protein abnormalities in amyotrophic lateral sclerosis." Thesis, University of Sussex, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.239078.

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29

Sundara, Rajan Sandeep. "Role of peroxiredoxins in amyotrophic lateral sclerosis." Thesis, University of Sheffield, 2013. http://etheses.whiterose.ac.uk/3784/.

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30

Zetterström, 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.

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Amyotrophic lateral sclerosis (ALS) is a disease in which the motor neurons die in a progressive manner, leading to paralysis and muscle wasting. ALS is always fatal, usually through respiratory failure when the disease reaches muscles needed for breathing. Most cases are sporadic, but approximately 5–10% are familial. The first gene to be linked to familial ALS encodes the antioxidant enzyme superoxide dismutase-1 (SOD1). Today, more than 160 different mutations in SOD1 have been found in ALS patients.  The mutant SOD1 proteins cause ALS by gain of a toxic property that should be common to al
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31

Gros-Louis, François. "Genetics of familial and sporadic amyotrophic lateral sclerosis." Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111859.

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Diseases affecting motor neurons, such as amyotrophic lateral sclerosis (Lou Gerhig's disease), hereditary spastic paraplegia and spinal bulbar muscular atrophy (Kennedy's disease) form a heterogeneous group of chronic progressive diseases and are among the most puzzling yet untreatable illnesses. Over the last decade identification of mutations in genes predisposing to these disorders has provided the means to better understand their pathogenesis. The discovery 13 years ago of SOD1 mutations linked to ALS, which account for less than 2% of all cases, had a major impact in the field. However,
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Puigdomenech, Poch Maria. "Development of therapeutic strategies for amyotrophic lateral sclerosis." Doctoral thesis, Universitat Autònoma de Barcelona, 2020. http://hdl.handle.net/10803/670740.

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L’esclerosis lateral amiotròfica (ELA) és una malaltia neurodegenerativa devastadora, per la qual actualment no existeix cap tractament. L’ELA es caracteritza per la pèrdua progressiva de motoneurones (MN) tan superiors com inferiors i la consegüent atrofia muscular. A dia d’avui es desconeix el mecanisme molecular específic que promou la mort de les MN, però s’ha relacionat amb diferents processos que inclouen tant les MN com les cèl·lules del voltant com pot ser l’estrès oxidatiu, la inflamació o l’agregació de proteïnes com la superòxid dismutasa 1 (SOD1). En aquesta tesis nosaltres propose
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33

Wootz, 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.

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34

Ekegren, 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.

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35

Abalkhail, Halah Abdullah. "Characterisation of a new familial amyotrophic lateral sclerosis." Thesis, Imperial College London, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.419231.

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Van, Der Hulst Egberdina Jozefa. "Heterogeneity of cognitive impairment in amyotrophic lateral sclerosis." Thesis, University of Edinburgh, 2012. http://hdl.handle.net/1842/6388.

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This PhD thesis examines the relationship between Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal dementia (FTD). ALS is a rapidly progressive neurodegenerative movement disorder characterized by muscle weakness, spasticity and abnormal reflexes. In a very small subset of patients (5-15%), ALS is associated with FTD. Furthermore, a larger subset of patients who do not suffer from overt dementia, develop subtle deficits in cognition and behaviour (up to 50%). The changes have mostly been observed in the domains of executive functions, language and behavioural functioning. These observati
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McGoldrick, P. "Investigating new mouse models of amyotrophic lateral sclerosis." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1388178/.

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Amyotrophic Lateral Sclerosis (ALS) is a progressive fatal neurodegenerative disease characterised by motor neuron degeneration and muscle denervation, atrophy and eventual paralysis. Approximately 10% of ALS cases are familial, caused by mutations in a range of genes including superoxide dismutase 1 (SOD1), TDP-43 (TARDBP) and fused-in-sarcoma (FUS), although the most common genetic cause of ALS is now thought to be a hexanucleotide repeat in C9ORF72. Mouse models of ALS, most commonly created by overexpressing wildtype or disease-causing mutant human proteins, have been critical for our unde
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Lorente, Pons Alejandro. "Investigation of oligodendroglial pathology in amyotrophic lateral sclerosis." Thesis, University of Sheffield, 2017. http://etheses.whiterose.ac.uk/20854/.

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Background: Amyotrophic lateral sclerosis (ALS) is a fatal, neurodegenerative disease. TDP-43 is found in pathological protein aggregates in neurons and glia in ALS and it is part of some mRNA transport granules. MBP messenger RNA (mRNA) must be transported to the oligodendrocyte processes for correct myelination. If TDP-43 were part of MBP mRNA transport granules, its aggregation could lead to loss of MBP in the CNS. Additionally, C9orf72 is a gene whose GGGGCC expansion mutation causes ALS. The expansion binds hnRNP-A2, a protein essential for the transport of MBP mRNA. This interaction may
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Jones, Ashley Richard. "The genetics and spread of Amyotrophic Lateral Sclerosis." Thesis, King's College London (University of London), 2014. https://kclpure.kcl.ac.uk/portal/en/theses/the-genetics-and-spread-of-amyotrophic-lateral-sclerosis(70f7a2e4-087c-47ec-9a1d-3b69d3e7f2c5).html.

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Our knowledge of the genetic contribution to Amyotrophic Lateral Sclerosis (ALS) is rapidly growing, and there is increasing research into how ALS spreads through the motor system and beyond. This thesis examines how genetic and non-genetic factors in ALS influence its spread. The genetic methods employed were PCR, genotyping, AFLP, DNA sequencing and gene expression. The methods to examine spread were H&amp;E staining, clinical history, age of onset (AOO), survival and health utility. Statistical procedures applied included regression analyses of genetic and non-genetic factors, maximum likel
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Figueiredo, 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.

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Dissertação para obtenção do Grau de Mestre em Genética Molecular e Biomedicina<br>MicroRNAs (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
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Martínez, Muriana Anna. "Modulation of the inflammatory response in amyotrophic lateral sclerosis." Doctoral thesis, Universitat Autònoma de Barcelona, 2018. http://hdl.handle.net/10803/664221.

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L’esclerosi lateral amiotròfica (ELA) és una malaltia neurodegenerativa que causa la paràlisi i la mort dels pacients arrel de la pèrdua de les motoneurones de la medul·la espinal i el cervell. Malauradament, els únics tractaments actuals que hi ha són pal·liatius i no endarrereixen la progressió de la malaltia. Una de les característiques de l’ELA és l’activació aberrant del sistema immunològic: (i) activació de les cèl·lules glials (microglia i astròcits) a nivell del sistema nerviós central i (ii) infiltració dels leucòcits, principalment macròfags, al sistema nerviós perifèric. La respo
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Wesenberg, Judith [Verfasser]. "Temporal lobe pathology in amyotrophic lateral sclerosis / Judith Wesenberg." Magdeburg : Universitätsbibliothek, 2017. http://d-nb.info/1139048422/34.

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Kelhetter, Kaitlyn Marie. "Velopharyngeal Function During Speech Production in Amyotrophic Lateral Sclerosis." Thesis, The University of Arizona, 2013. http://hdl.handle.net/10150/297626.

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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that leads to decreased muscle function resulting in problems with movement, breathing, swallowing, and speech. In the United States, approximately 5,600 people are diagnosed with ALS annually (ALS Association [ALSA], 2010). ALS can attack muscles all over the body, including those in the velopharynx, a muscular valve-like structure located at the back of the oral cavity. In a healthy adult, the velopharynx closes off the passageway to the nasal cavity during speech production to direct air through the mouth rather than through
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Kieran, Dairin Mary. "Preventing motoneuron degeneration in models of amyotrophic lateral sclerosis." Thesis, University College London (University of London), 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.412710.

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45

Ryan, Sarah. "Modelling C9orf72-linked frontotemporal dementia and amyotrophic lateral sclerosis." Thesis, University of Manchester, 2015. https://www.research.manchester.ac.uk/portal/en/theses/modelling-c9orf72linked-frontotemporal-dementia-and-amyotrophic-lateral-sclerosis(92740fce-3f4a-43cc-afed-b0f40f71ed03).html.

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Frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) are neurodegenerative diseases with considerable clinical, genetic and pathological overlap. A GGGGCC hexanucleotide repeat expansion in a non-coding region of C9orf72 on chromosome 9 is the major cause of both FTLD and ALS. An understanding of the mechanisms through which the expansion leads to neurodegeneration will therefore be vital for development of novel therapeutics. There are 3 possible mechanisms through which the GGGGCC expansion may cause toxicity: (i) through haploinsufficiency of C9orf72, (ii) repeti
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Kaneb, Hannah Marlene Jostock. "Preclinical testing of potential therapeutics for Amyotrophic Lateral Sclerosis." Thesis, Imperial College London, 2012. http://hdl.handle.net/10044/1/9606.

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Amyotrophic Lateral Sclerosis (ALS) is a fatal neurological disorder caused by the selective degeneration of upper and lower motor neurons, for which there are currently no effective treatments. 10% of ALS cases are familial, of which 15-20% are caused by mutations in the copper/zinc superoxide dismutase gene (SOD1). The primary triggers for motor neuron degeneration in ALS are unknown, but research in patients and SOD1 models has revealed several mechanisms which may contribute. These include: oxidative stress, mitochondrial abnormalities, inflammation and protein aggregation. This study focu
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Rahmani, Kondori Nazanin. "Developing and testing therapies for Amyotrophic Lateral Sclerosis (ALS)." Thesis, Imperial College London, 2013. http://hdl.handle.net/10044/1/34340.

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Amyotrophic Lateral Sclerosis (ALS) is a lethal motor neuron disorder, characterized by selective and progressive degeneration of both upper and lower motor neurons. Currently the only available drug for the treatment of ALS is Riluzole, which exerts little overall effects. Therefore ALS is currently an untreatable disease. A small proportion (5%) of patients develop the hereditary form of the disease known as familial ALS (FALS), 40% of which are associated with G4C2 hexanucleotide repeat expansion in the C9orf72 gene and 20% with mutations in the SOD1 (copper/zinc superoxide dismutase-1) gen
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48

Wood-Allum, Clare Alison. "Impaired mitochondrial anti-oxidant defence in amyotrophic lateral sclerosis." Thesis, University of Sheffield, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.485078.

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In this study a candidate-generating approach was first employed, using proteomics to identify mitochondrial proteins whose expression changed in the presence of mutant SODI in a wellvalidated model of SOD I-related familial amyotrophic lateral sclerosis (ALS). Proteins whose expression changed in a mutant-specific fashion had functions potentially relevant to the pathogenesis of ALS including roles in apoptosis, protein processing and anti-oxidant defence. I then validated selected protein changes of interest by Western blotting in mitochondrial preparations of further NSC34 cells and G93A tr
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49

Pramatarova, Albéna. "Role of CuZn superoxide dismutase in familial amyotrophic lateral sclerosis." Thesis, McGill University, 1999. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=36684.

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Amyotrophic lateral sclerosis (ALS) is a late onset neuro-degenerative disorder characterized by highly selective death of large motor neurons in the cerebral cortex and spinal cord. A proportion of the familial cases (FALS) with autosomal dominant transmission was linked to chromosome 21q and the defective gene was shown to be the Cu/Zn superoxide dismutase gene (SOD1). SOD1 is a ubiquitously expressed cytoplasmic metalloenzyme catalyzing the dismutation of the superoxide free radical into hydrogen peroxide and molecular oxygen. We have screened our FALS patients for mutations in the SOD1 gen
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50

Skinner, Thomas. "Molecular and neurological effects of fenretinide on Amyotrophic Lateral Sclerosis." Thesis, McGill University, 2009. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=32585.

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Amyotrophic Lateral Sclerosis (ALS) is the most common adult motor neuron disease. Currently there is only one modestly beneficial pharmacological treatment, Riluzole, approved by the FDA. It has been documented that polyunsaturated fatty acid (PUFA) concentrations can affect the progression of neurodegenerative conditions however most interventions rely on nutritional supplementation and have limited long-term effectiveness. This thesis describes experiments using fenretinide, a synthetic retinoid capabl
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