Relevant bibliographies by topics / Amyotropic Lateral Sclerosis (ALS) / Dissertations / Theses
To see the other types of publications on this topic, follow the link: Amyotropic Lateral Sclerosis (ALS).

Dissertations / Theses on the topic 'Amyotropic Lateral Sclerosis (ALS)'

Author: Grafiati
Published: 4 June 2021
Last updated: 26 July 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 dissertations / theses for your research on the topic 'Amyotropic Lateral Sclerosis (ALS).'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse dissertations / theses on a wide variety of disciplines and organise your bibliography correctly.

1

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.

Full text
Abstract:
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
APA, Harvard, Vancouver, ISO, and other styles
2

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

LOFFREDA, ALESSIA. "RNA Metabolism alteration in amyotrophic lateral sclerosis models." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2014. http://hdl.handle.net/10281/81488.

Full text
Abstract:
Project1: Unraveling the impact of microRNA on Amyotrophic Lateral Sclerosis pathogenesis. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that specifically affects upper and lower motor neurons leading to progressive paralysis and death. There is currently no effective treatment. Thus, identification of the signaling pathways and cellular mediators of ALS remains a major challenge in the search for novel therapeutics. Recent studies have shown that microRNA have a significant impact on normal CNS development and onset and progression of neurological disorders. Based on th
APA, Harvard, Vancouver, ISO, and other styles
4

AROSIO, ALESSANDRO. "Study of transcriptional alterations in Amyotrophic Lateral Sclerosis." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2015. http://hdl.handle.net/10281/94396.

Full text
Abstract:
Amyotrophic Lateral Sclerosis (ALS) is a progressive fatal neuromuscular disease characterized by selective motorneurons loss. Since mutations in TARDBP and FUS genes were discovered to cause familial form of ALS and TDP-43 and FUS proteins play important roles in RNA metabolism, transcriptional alterations emerged as potential pathogenic mechanism. RNA metabolism include several aspects of RNA regulation such as RNA transcription, maturations and regulation. In this study we have investigated two different fields of RNA metabolism: the first one concerns to microRNAs (miRNA) which regulate
APA, Harvard, Vancouver, ISO, and other styles
5

Rahmani, Kondori Nazanin. "Developing and testing therapies for Amyotrophic Lateral Sclerosis (ALS)." Thesis, Imperial College London, 2013. http://hdl.handle.net/10044/1/34340.

Full text
Abstract:
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
APA, Harvard, Vancouver, ISO, and other styles
6

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.

Full text
Abstract:
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
APA, Harvard, Vancouver, ISO, and other styles
7

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
8

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
9

Xu, Guang. "Identification of Novel Genetic Variations for Amyotrophic Lateral Sclerosis (ALS)." eScholarship@UMMS, 2018. https://escholarship.umassmed.edu/gsbs_diss/958.

Full text
Abstract:
A list of genes have been identified to carry mutations causing familial ALS such as SOD1, TARDBP, C9orf72. But for sporadic ALS, which is 90% of all ALS cases, the underlying genetic variants are still largely unknown. There are multiple genome-wide association study (GWAS) for sporadic ALS, but usually a large number nominated SNP can hardly be replicated in larger cohort analysis. Also majority of GWAS SNP lie within noncoding region of genome, imposing a huge challenge to study their biological role in ALS pathology. With the rapid development of next-generation sequencing technology, we a
APA, Harvard, Vancouver, ISO, and other styles
10

DIAMANTI, LUCA. "Identification of muscular MRI biomarkers in Amyotrophic Lateral Sclerosis (ALS)." Doctoral thesis, Università degli studi di Pavia, 2019. http://hdl.handle.net/11571/1301269.

Full text
Abstract:
-<br>Amyotrophic lateral sclerosis (ALS) is a chronic neurodegenerative disease usually assumed to target motor neurons (MNs). However, evidence of involvement of other cells types, also outside the central nervous system, has challenged this neurocentric view of ALS, which may thus be defined a multi-systemic disease. Although muscle abnormalities in ALS are habitually considered secondary to MN damage, muscle, too, can be a primary target, with dying back degeneration of MNs occurring subsequently. In recent years, efforts to clarify the pathogenesis of ALS have focused on muscle tissue. Mus
APA, Harvard, Vancouver, ISO, and other styles
11

Menon, Parvathi. "The role of the corticomotorneurons in pathogenesis of amyotrophic lateral sclerosis." Thesis, The University of Sydney, 2014. http://hdl.handle.net/2123/11609.

Full text
Abstract:
Amyotrophic lateral sclerosis (ALS) is a progressive, degenerative disease of the motor system clinically defined by the presence of upper and lower motor neuron (LMN) signs. The site of onset of pathophysiology within the motor system in ALS remains unresolved and this thesis examines the role of the corticomotor neuron in the pathogenesis of ALS. The diagnostic utility of the split-hand sign in ALS involving preferential wasting of the ‘thenar’ group of intrinsic hand muscles namely the abductor pollicis brevis (APB) and first dorsal interosseous (FDI) was established by recording the spli
APA, Harvard, Vancouver, ISO, and other styles
12

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.

Full text
Abstract:
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
APA, Harvard, Vancouver, ISO, and other styles
13

Morimoto, Emiko. "The Role of Microglia in Amyotrophic Lateral Sclerosis: Analysis of MicroRNAs." Thesis, Harvard University, 2012. http://dissertations.umi.com/gsas.harvard:10155.

Full text
Abstract:
Amyotrophic lateral sclerosis (ALS) is a progressive adult onset neurodegenerative disease characterized by selective death of the upper and lower motor neurons of the brain and spinal cord. Neuromuscular synapses are lost leading to paralysis and ultimately death. Non-neuronal cells, such as astrocytes, oligodendrocytes, and microglia, have been shown to contribute to ALS disease progression in mouse models. Microglia, the innate immune cells of the central nervous system, have been shown to be activated in ALS and contribute to disease progression. Hundreds of mRNAs have shown to be dysr
APA, Harvard, Vancouver, ISO, and other styles
14

Kasi, 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/.

Full text
APA, Harvard, Vancouver, ISO, and other styles
15

Jacoby, 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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
16

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
17

Forsberg, 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.

Full text
Abstract:
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative syndrome of unknown etiology that most commonly affects people in middle and high age. The hallmark of ALS is a progressive and simultaneous loss of upper and lower motor neurons in the central nervous system that leads to a progressive muscle atrophy, paralysis and death usually by respiratory failure. ALS is not a pure motor neuronal syndrome; it extends beyond the motor system and affects extramotor areas of the brain as well. The majority of the patients suffer from a sporadic ALS disease (SALS) while in at least ten percent
APA, Harvard, Vancouver, ISO, and other styles
18

Wagner, 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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
19

Bergemalm, 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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
20

Pettit, 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.

Full text
Abstract:
Cognitive impairment in amyotrophic lateral sclerosis (ALS) is characterized by deficits on tests of executive functions however the contribution of processing speed is unknown. By contrast, multiple sclerosis (MS) is a disorder in which slowed processing speed is regarded as the core deficit, however, methodology is often confounded by tasks which depend on motor speed. MRI studies have revealed multi-system cerebral involvement in ALS, with evidence of reduced white matter volume and integrity in predominantly frontotemporal regions. The current study had two aims. Firstly, to investigate wh
APA, Harvard, Vancouver, ISO, and other styles
21

Roach, Abbey R. "EXECUTIVE DEFICITS IN AMYOTROPHIC LATERAL SCLEROSIS: EXAMINING THE CONSEQUENCES OF SELF-REGULATORY IMPAIRMENT ON QUALITY OF LIFE." UKnowledge, 2010. http://uknowledge.uky.edu/gradschool_diss/113.

Full text
Abstract:
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease that attacks the motor system and contributes to a range of cognitive and behavioral impairments (e.g., behavioral and emotional disinhibition, planning and problem solving difficulties, impulsivity, attention, and personality change). This executive dysfunction may contribute to selfregulatory impairment across several domains, including cognitive skills, thought processes, emotion regulation, interpersonal skills, and physiology, that may be crucial to the quality of life (QOL), or well being, of patients and their care
APA, Harvard, Vancouver, ISO, and other styles
22

Lee, 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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
23

Ababneh, 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.

Full text
Abstract:
The hexanucleotide repeat expansion (HRE) mutation within C9orf72 gene is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Several hypotheses have been proposed for how the mutation contributes to pathogenicity, including the loss of C9orf72 gene function, RNA-mediate toxicity and the formation of toxic dipeptides by repeat-associated non-ATG (RAN) translation. Patient-specific iPSCs provide a promising tool for the study of the cellular and molecular mechanisms of human diseases in relevant cell types and discovering potential therapies. The CRIS
APA, Harvard, Vancouver, ISO, and other styles
24

Bergmann, 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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
25

DURANTI, ELISA. "Study of DUX4 as a novel biomarker in Amyotrophic Lateral Sclerosis." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2023. https://hdl.handle.net/10281/403046.

Full text
Abstract:
La sclerosi laterale amiotrofica (SLA) è una malattia degenerativa di eziologia sconosciuta caratterizzata dalla compromissione dei motoneuroni superiori e inferiori. I fattori di rischio associati all'insorgenza e alla progressione della SLA rimangono sconosciuti. L'ipotesi più accreditata sull'eziopatogenesi della SLA prevede una concomitanza tra fattori genetici e ambientali che possono causare o contribuire allo sviluppo di forme familiari e sporadiche di SLA. Simile ad altre malattie neurodegenerative, la SLA è caratterizzata da un accumulo anomalo di proteine insolubili nel citoplasma de
APA, Harvard, Vancouver, ISO, and other styles
26

Burrell, 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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
27

Forrest, 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.

Full text
Abstract:
The human VAMP-associated protein B (hVAPB) has been shown to cause a range of motor neurodegenerative diseases, including amyotrophic lateral sclerosis 8 (ALS8) and spinal muscular atrophy (SMA). However, the molecular mechanisms underlying VAPB-induced neurodegeneration remain elusive. We sought to address this question by identifying VAPB interacting proteins, which may be affected by the disease causative mutations. Using a combination of biochemical and genetic approaches in Drosophila, we confirmed the evolutionarily conserved phosphoinositide phosphatase Sac1 (Suppressor of Actin 1), as
APA, Harvard, Vancouver, ISO, and other styles
28

RUSCONI, MICHELA. "Activation state and functionality of dendritic cells from peripheral blood of amyotrophic lateral sclerosis patients." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2017. http://hdl.handle.net/10281/153236.

Full text
Abstract:
Molti dati pubblicati sottolineano l’importanza dell’infiammazione per la neurodegenerazione nella sclerosi laterale amiotrofica (SLA) con un aumento del reclutamento al midollo spinale dei monociti periferici, delle cellule dendritiche (DCs) e delle cellule T in modelli murini e nell’uomo. Ad oggi non ci sono dati circa lo stato funzionale delle DCs nel sangue periferico dei pazienti SLA. Lo scopo dello studio è esaminare le DCs circolanti in una coorte di pazienti SLA prendendo in considerazione la loro storia clinica, per capire come queste cellule contribuiscano alla progressione della p
APA, Harvard, Vancouver, ISO, and other styles
29

Proudfoot, Malcolm. "Cortical neurophysiology of ALS." Thesis, University of Oxford, 2016. https://ora.ox.ac.uk/objects/uuid:5b8673f7-8eb2-4bf2-b3b8-d901fa134007.

Full text
Abstract:
The experiments described in this thesis aimed to investigate the neurophysiological consequences, at the cortical level, of the neurodegenerative condition, amyotrophic lateral sclerosis (ALS). A principle tenet of this study was that ALS is, first and foremost, a disorder of the cortical motor system, the precise pathological mechanisms of which remain incompletely understood. Furthermore, the degree to which neurodegeneration can be evidenced before the onset of symptoms is thus far uncertain, and the optimal means by which to measure therapeutic response has yet to be determined. Chapter 1
APA, Harvard, Vancouver, ISO, and other styles
30

Gallart, 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.

Full text
Abstract:
L’Esclerosi Lateral Amiotròfica (ELA) és una malaltia neurodegenerativa de la motoneurona. Totes les neurones del sistema motor es veuen afectades pel flux degeneratiu en aquesta malaltia des de l’escorça motora primària fins a la junta neuromuscular. Al 1993, la descoberta de mutacions en el gen SOD1 va obrir nous horitzons experimentals amb la creació dels primers rosegadors transgènics per aquesta malaltia. Des d’aquell moment i fins a l’actualitat la mutació més estudiada en l’ELA ha estat la SOD1-G93A a tot el món. Els models transgènics per aquesta mutació de la SOD1 han revelat mecanism
APA, Harvard, Vancouver, ISO, and other styles
31

Klepek, 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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
32

Frakes, 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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
33

Torres, 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.

Full text
Abstract:
L'ELA és una malaltia neurodegenerativa multifactorial. Atès que actualment és una malaltia incurable sense una causa coneguda, els esforços per descobrir noves dianes terapèutiques estan ben justificats. L'evidència disponible indica que la fisiopatologia de l'ELA pot estar composta parcialment d'interaccions entre alteracions de lípids, estrès oxidatiu, deslocalització de TDP-43 i metabolisme de l'ARN. Per explorar l'impacte de la deslocalització de TDP-43, quantifiquem per primera vegada l’splicing críptic derivat de la disfunció de TDP-43 en teixit humà, models cel·lulars i ratolins. Els e
APA, Harvard, Vancouver, ISO, and other styles
34

Schmidt, 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.

Full text
Abstract:
Dominant mutations in profilin-1 (PFN1) are associated with amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease characterized by motor neuron loss, paralysis, and death from respiratory failure. Our lab recently demonstrated that PFN1 mutant proteins are destabilized—they unfold at milder conditions during thermal and chemical denaturation. Furthermore, we and others have shown that mutant PFN1 is more prone to misfold and aggregate. This misfolding alters PFN1’s protein-protein interactions, as demonstrated by an affinity purification-mass spectrometry screen. While ALS-ass
APA, Harvard, Vancouver, ISO, and other styles
35

Palmieri, Arianna. "A neuropsychological and cognitive insight in amyotrophic lateral sclerosis / motor neuron disease." Doctoral thesis, Università degli studi di Padova, 2008. http://hdl.handle.net/11577/3425586.

Full text
Abstract:
A neuropsychological and cognitive insight into motor neuron disease/amyotrophic lateral sclerosis (MND/ALS) 1) We evaluated cognitive functioning in 128 MND patients (vs 113 healthy controls), with a comprehensive neuropsychological battery. Dysfunctions were significantly present in 40% of cases (mainly for executive functioning and short-term memory); 7% of them showed clear frontal or fronto-temporal dementia (chapter 2). 2) Nine ALS patients (vs 10 healthy controls) underwent the fMRI study: significant differences were displayed in lateralized activation between patients and contro
APA, Harvard, Vancouver, ISO, and other styles
36

Kebe, 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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
37

Camara, 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.

Full text
Abstract:
Dissertação para obtenção do Grau de Mestre em Engenharia Biomédica<br>In 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
APA, Harvard, Vancouver, ISO, and other styles
38

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.

Full text
Abstract:
La Sclérose Latérale Amyotrophique (SLA) est une maladie neurodégénérative fatale caractérisée par la dégénérescence des motoneurones centraux et périphériques. Elle est le plus souvent sporadique (SALS, 90% des cas), tandis que les formes familiales (FALS) représentent 10% des patients. Une vingtaine de gènes liés à la SLA ont été identifiés et sont responsables de 70% des FALS et 10% des SALS. Le but de ce projet était d’étudier la contribution de 6 gènes rares dans une large cohorte de patients français atteints de SLA et d’étudier les conséquences fonctionnelles de certains variants identi
APA, Harvard, Vancouver, ISO, and other styles
39

Watermeyer, 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.

Full text
Abstract:
Amyotrophic Lateral Sclerosis (ALS) is a debilitating and life–limiting neurodegenerative disorder that causes progressive muscle atrophy and spasticity. A small proportion of ALS patients experience co–morbid Frontotemporal Dementia (FTD). Milder cognitive–behavioural changes have been noted in ALS patients without dementia. In these patients, deficits in executive functioning, language, memory and behaviour have been documented. Recently, changes to emotional processing and social cognition (EMOSOC) in ALS have also been reported, albeit with inconsistent findings. The primary aims of the cu
APA, Harvard, Vancouver, ISO, and other styles
40

GIANNINI, MARTA. "Regulatory role of TDP-43 on R-loop formation in Amyotrophic Lateral Sclerosis (ALS)." Doctoral thesis, Università degli studi di Pavia, 2019. http://hdl.handle.net/11571/1301290.

Full text
Abstract:
Gli R-loops sono costituiti da un ibrido RNA-DNA più un filamento di DNA dislocato (ssDNA) e sono naturalmente coinvolti in processi cellulari come la trascrizione del DNA, la replicazione mitocondriale e nucleare del DNA o il cambio di classe delle immunoglobuline (Ig). Il loro sviluppo è favorito da specifiche aree del genoma arricchito in cluster GC, detti GC skew, tipici dei promotori, grazie alla stabilità termodinamica della struttura ibrida RNA-DNA ad una frequenza maggiore nei siti trascritti di loci genomici e quindi possono agire come intermedi cotranscrizionali. In alcune condizioni
APA, Harvard, Vancouver, ISO, and other styles
41

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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
42

Sanhueza, 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.

Full text
Abstract:
Amyotrophic lateral sclerosis (ALS) is a major neurodegenerative disease caused by the death of motor neurons leading to paralysis. Mechanisms underlying the pathogenesis of the disease remain unknown but with the identification of causative genes from ALS patients, some processes have been linked to the disease. One of these genes is VAPB, a highly conserved protein involved in lipid transfer, vesicle metabolism and synaptic morphology. We modeled in Drosophila the disease-linked P56S mutation (DVAP-P58S) and observed with the expression of this allele neurodegeneration in the eye and loss of
APA, Harvard, Vancouver, ISO, and other styles
43

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.

Full text
Abstract:
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
APA, Harvard, Vancouver, ISO, and other styles
44

Crockford, Christopher James. "Neuropsychological functioning across the ALS disease course and its assessment." Thesis, University of Edinburgh, 2018. http://hdl.handle.net/1842/33135.

Full text
Abstract:
Amyotrophic Lateral Sclerosis (ALS) is a rapid and fatal neurodegenerative disease marked by progressive muscle weakness and wasting. Approximately 50% of people with ALS experience changes in cognition and behaviour. Previous research has been mixed as to whether cognition declines over the course of ALS, or whether it is related to proxies of disease progression (e.g., functional disability scales). However, this research has suffered from limitations including the use of inappropriate measures of cognition, imprecise measures of disease progression, high attrition, practice effects, and bia
APA, Harvard, Vancouver, ISO, and other styles
45

Grundström, Eva. "On pathophysiological mechanisms in amyothrophic lateral sclerosis." Doctoral thesis, Uppsala University, Department of Neuroscience, 2000. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-521.

Full text
Abstract:
<p>Amyotrophic lateral sclerosis is a fatal, progressive neurodegenerative disease with unknown ethiology. The aim of this study was to increase understanding of the pathophysiological mechanisms of dying motor neurons and wasting muscle tissue in this particular disorder.</p><p>Quantitative receptor autoradiographic methodology was applied on cervical spinal cord sections from patients with ALS to evaluate the specific binding of the acetylcholine transporter <sup>3</sup>H-vesamicol in motor neurons. Despite a significant reduction of the number of ventral motor neurons in ALS, the <sup>3</su
APA, Harvard, Vancouver, ISO, and other styles
46

Liu, Zao. "Measurement of White Matter Structure Changes in Amyotrohpic Lateral Sclerosis Using Fractal Analysis." Cleveland State University / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=csu1315930636.

Full text
APA, Harvard, Vancouver, ISO, and other styles
47

Tarlarini, C. "MOLECULAR AND GENETIC CHARACTERIZATION OF ALS PATIENTS." Doctoral thesis, Università degli Studi di Milano, 2014. http://hdl.handle.net/2434/232574.

Full text
Abstract:
Amyotrophic lateral sclerosis (ALS) is an adult‑onset, rapidly progressive and ultimately fatal neurodegenerative disorder characterised by degeneration of upper and lower motor neurons. This leads to weakness, muscular atrophy and spasticity, which relentlessly progress to complete paralysis with a low survival rate beyond 5 years from symptom onset. In 10% of cases the disease is considered to be genetically transmitted (FALS) while in the remaining cases it occurs sporadically in the population (SALS). To date cases of hereditary ALS have been attributed to mutations in more than 16 d
APA, Harvard, Vancouver, ISO, and other styles
48

Patel, 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.

Full text
Abstract:
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder in which an RNA-binding protein, TDP-43, mislocalizes and pathologically accumulates from its normal nuclear locale to the cytosol. Given that the subcellular localization and expression of TDP-43 is tightly regulated, we posit that identifying novel interactors of wild-type and mutant TDP-43 could reveal insight into networks involved in regulating its localization, ultimately driving neurodegeneration in ALS. Using CRISPR/Cas9, our lab previously generated knock-in cell lines expressing GFP in the endogenous TARDBP locus (
APA, Harvard, Vancouver, ISO, and other styles
49

Cone, 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.

Full text
APA, Harvard, Vancouver, ISO, and other styles
50

Graffmo, Karin Sixtensdotter. "Of mice and men : SOD1 associated human amyotrophic lateral sclerosis and transgenic mouse models." Doctoral thesis, Umeå : Univ, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1376.

Full text
APA, Harvard, Vancouver, ISO, and other styles
You might also be interested in the bibliographies on the topic 'Amyotropic Lateral Sclerosis (ALS)' for other source types:
Journal articles Books
We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!

To the bibliography