Sökning: "ALS"

Visar resultat 1 - 5 av 178 avhandlingar innehållade ordet ALS.

  1. 1. ALS – a Clinical Thesis

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Ingela Nygren; Uppsala universitet.; [2005]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neurosciences; ALS; epidemiology; drug sales statistics; QoL; growth factors; polyamines; Neurovetenskap; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Neurology; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Neurologi;

    Sammanfattning : Amyotrophic lateral sclerosis (ALS) is characterized by a progressive loss of upper and lower motor neurons, resulting in muscle weakness and death from respiratory failure within 3-5 years after onset. The incidence is 1.5-2.7/100,000 inhabitants. LÄS MER

  2. 2. SOD1 misfolding and aggregation in ALS in the light of conformation-specific antibodies

    Detta är en avhandling från Umeå : Umeå university

    Författare :Manuela Lehmann; Umeå universitet.; [2019]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; antibodies; SOD1; disordered SOD1; patient-derived models; low oxygen tension; Immunotherapy;

    Sammanfattning : Mutations in the superoxide dismutase 1 (SOD1) gene are linked to the progressive neurodegenerative disease amyotrophic lateral sclerosis (ALS). ALS-associated mutations affect the stability of the SOD1 protein and promote its unfolding. As a consequence, disordered SOD1 species can misfold and accumulate into insoluble aggregates. LÄS MER

  3. 3. On the aetiology of ALS a comprehensive genetic study

    Detta är en avhandling från Umeå : Umeå Universitet

    Författare :Caroline Ingre; Umeå universitet.; [2013]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; risk factor; VAPB; SOD1; amyotrophic lateral sclerosis; ATXN2; SMN1; SMN2; PFN1; 50 bp deletion in SOD1 promotor; population-specific genetic variations; Neurology; neurologi;

    Sammanfattning : Introduction: Amyotrophic lateral sclerosis (ALS) is a deadly, progressive neuromuscular disease that affects individuals all over the world. About 10% of the patients have a familial predisposition (FALS) while the remainder of cases are isolated or sporadic (SALS) and of unknown cause. LÄS MER

  4. 4. Structural investigation of SOD1 aggregates in ALS identification of prion strains using anti-peptide antibodies

    Detta är en avhandling från Umeå : Umeå universitet

    Författare :Johan Bergh; Umeå universitet.; [2018]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; SOD1; prion; motor neuron disease; neurodegeneration; strain; seeding; protein aggregation; transgenic mice; peptide antibodies; Neurology; neurologi;

    Sammanfattning : Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative syndrome characterized by progressive degeneration of motor neurons that result in muscle wasting. The symptoms advance gradually to paralysis and eventually death. Most patients suffer from sporadic ALS (sALS) but 10% report a familial predisposition. LÄS MER

  5. 5. Zinc in folding and misfolding of SOD1 Implications for ALS

    Detta är en avhandling från Stockholm : Department of Biochemistry and Biophysics, Stockholm University

    Författare :Lina Leinartaité; Stockholms universitet.; [2014]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; protein stability; protein misfolding; local unfolding; metal binding; energy landscape; protein disease; amyotrophic lateral sclerosis; biokemi; Biochemistry;

    Sammanfattning : Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease causing degeneration of upper and lower motor neurons. Most ALS cases are sporadic; only 6% are associated with mutations in Cu, Zn superoxide dismutase (SOD1). LÄS MER