Search for dissertations about: "Dissertations: the families of ALS Patients"

Found 3 swedish dissertations containing the words Dissertations: the families of ALS Patients.

  2. 1. SOD, ORF and ALS: On the role of SOD1 and C9ORF72 in the pathogenesis of ALS

    Author : Isil Keskin; Peter M. Andersen; Lars Lannfelt; Umeå universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; SOD1; Misfolded species;

    Abstract : Amyotrophic lateral sclerosis (ALS) is characterized by adult-onset degeneration of upper and lower motor neurons. Symptoms begin focally in one muscle and then spread contiguously, resulting in progressive paralysis and death from respiratory failure. 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. Superoxide dismutase 1 and amyotrophic lateral sclerosis

    Author : P. Andreas Jonsson; Stefan L. Marklund; David R. Borchelt; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neurosciences; aggregates; ALS; amyotrophic lateral sclerosis; cerebrospinal fluid; disulfide-reduced; inclusions; misfolded; protective factor; SOD1; transgenic; Neurovetenskap; Neurology; Neurologi; Clinical Chemistry; klinisk kemi;

    Abstract : Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting motor neurons in the spinal cord, brain stem and motor cortex, leading to paralysis, respiratory failure and death. In about 5% of ALS cases, the disease is associated with mutations in the CuZn-superoxide dismutase (hSOD1) gene. READ MORE