Search for dissertations about: "ALS pathways"

Showing result 1 - 5 of 14 swedish dissertations containing the words ALS pathways.

  2. 1. Using patient-derived cell models to investigate the role of misfolded SOD1 in ALS

    Author : Elin Forsgren; Jonathan Gilthorpe; Stefan Marklund; Peter Andersen; Thomas Brännström; Ulrika Nordström; Séverine Boillée; Umeå universitet; []
    Keywords : ALS; SOD1; patient-derived models; induced pluripotent stem cells; motor neurons; astrocytes; 20S proteasome low oxygen tension; misfolded SOD1; Neurology; neurologi;

    Abstract : Protein misfolding and aggregation underlie several neurodegenerative proteinopathies including amyotrophic lateral sclerosis (ALS). Superoxide dismutase 1 (SOD1) was the first gene found to be associated with familial ALS. READ MORE

  4. 2. Amyotrophic lateral sclerosis (ALS) associated with superoxide dismutase 1 (SOD1) mutations in British Columbia, Canada : clinical, neurophysiological and neuropathological features

    Author : Heather G. Stewart; Hiroshi Mitsumoto; Umeå universitet; []
    Keywords : ALS; SOD1; complete penetrance; incomplete penetrance; mis-diagnosis; upper motor neuron; clinical neurophysiology; transcranial magnetic stimulation; peristimulus time histogram; corticospinal pathway; cortical inhibition; cortical hyper-excitability;

    Abstract : Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor neurons and their supporting cells in the brain, brainstem and spinal cord, resulting in muscle paresis and paralysis including the bulbar (speech, chewing, swallowing) and respiratory muscles. The average age at onset is 55 years, and death due to respiratory failure occurs 2-5 years after symptom onset in ~ 85% of cases. READ MORE

  5. 3. Amyotrophic Lateral Sclerosis – A Study in Transgenic Mice

    Author : Hanna Wootz; Dan Lindholm; Håkan Aldskogius; Christopher Fowler; Uppsala universitet; []
    Keywords : Neurosciences; ALS; Caspase; Caspase-12; Cathepsin; Cystatin; ER stress; Motor neuron; Neurodegeneration; Sod1; XIAP; Neurovetenskap;

    Abstract : Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an incidence of 1.5-2.7/100000 people/year. Today there is no cure for the disease and only symptomatic treatments are available. READ MORE

  6. 4. Mutant superoxide dismutase-1-caused pathogenesis in amyotrophic lateral sclerosis

    Author : Daniel Bergemalm; Stefan Marklund; Thomas Brännström; Peter Andersen; Caterina Bendotti; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; SOD1; mitochondria; proteome; transgenic mice; inclusion; Clinical chemistry; Klinisk kemi; biokemi; Biochemistry; neurologi; Neurology; Clinical Chemistry; klinisk kemi; patologi; Pathology;

    Abstract : Amyotrophic lateral sclerosis (ALS) is a devastating disease that affects people in their late mid-life, with fatal outcome usually within a few years. The progressive degeneration of neurons responsible for muscle movement (motor neurons) throughout the central nervous system (CNS) leads to muscle wasting and paralysis, and eventually affects respiratory function. READ MORE

  7. 5. Identification of pathways of degeneration and protection in motor neuron diseases

    Author : Susanne Nichterwitz; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Motor neuron diseases preferentially affect specific neuronal populations with distinct clinical features even if disease-causing genes are expressed in many cell types. In spinal muscular atrophy (SMA), somatic motor neurons are selectively vulnerable to a deficiency in the broadly expressed survival of motor neuron 1 (SMN1) gene. READ MORE