Sökning: "Ataxia"

Visar resultat 1 - 5 av 47 avhandlingar innehållade ordet Ataxia.

  1. 1. A Beautiful Failure : The Event of Death and Rhetorical Disorder in the Gospel according to Mark

    Författare :Joel Kuhlin; Bibelvetenskap; []
    Nyckelord :HUMANIORA; HUMANITIES; Death of Jesus; he Gospel according to Mark; Mk 15:6–39; Papias of Hierapolis; Progymnasmata; rhetoric; failure hamartêma ; narrative διήγησις; diêgêsis ; taxis τάξις ; lexis λέξις ; ; disorder; social death; The Logic of Sense; Gilles Deleuze; event; ataxia; diêgêma διήγημα ; chreia χρεία ; parataxis; paradox; parable; Franz Kafka; Der Prozeß; Josef K.; suspension-execution σταυροῦν: staurôn ; suspension-pole σταυρός: stauros ; Aelius Theon; dianoia διάνοια ; Francis Bacon;

    Sammanfattning : Is there beauty in rhetorical failure? This study is an exploration of disorder and death in the Gospel according to Mark (Mk). With a surviving fragment from the second-century theologian Papias of Hierapolis, the early reception of Mk locates insights into the composition of Jesus’s death, especially through the concepts of ataxia and rhetorical failure. LÄS MER

  3. 2. Induced pluripotent stem cell (iPSC) modelling for the identification of mechanisms behind neurodevelopmental disorders

    Författare :Loora Laan; Niklas Dahl; Jens Schuster; Joakim Klar; Anna Falk; Jared Sterneckert; Uppsala universitet; []
    Nyckelord :Induced pluripotent stem cells; Neurogenesis; Neural differentiation; Down syndrome; Dravet syndrome; Ataxia; Medical Cell Biology; Medicinsk cellbiologi;

    Sammanfattning : Human induced pluripotent stem cells (iPSCs) have opened new possibilities to recapitulate disease mechanisms and to model disorders in vitro. In the studies presented here, iPSCs were established to model neural differentiation in Down syndrome (DS), caused by trisomy for chromosome 21 (T21); Dravet syndrome (DRS), caused by variants in the SCN1A gene; and an ataxia syndrome, caused by a variant in the NFASC gene. LÄS MER

  4. 3. Radiological studies of LMNB1-related autosomal dominant leukodystrophy and Marinesco-Sjögren syndrome

    Författare :Johannes Finnsson; Raili Raininko; Eva Kumlien; Isabella Björkman-Burtscher; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Leukoencephalopathies; hereditary central nervous system demyelinating diseases; autonomic dysfunction; adult-onset; neuromuscular disease; pediatric; neuro-ophtalmology; ataxia;

    Sammanfattning : There are approximately 6000 to 8000 rare diseases, each with a prevalence of less than 1 / 10 000, but in aggregate affecting 6 to 8% of the population. It is important to evaluate disease development and progression to know the natural course of any disease. LÄS MER

  5. 4. Clinical and genetic studies of patients and families with ataxia

    Författare :Sorina Gorcenco; Lund Neurologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary ataxia; Next generation DNA sequencing; Diagnostic yield; Quality of life;

    Sammanfattning : .... LÄS MER

  7. 5. Genetic and Molecular analysis of the Spinocerebellar ataxia type 7 (SCA7) disease gene

    Författare :Jenni Jonasson; Monica Holmberg; Christine Van Broeckhoven; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Spinocerebellar ataxia; human genetics; linkage analysis; anticipation; CAG repeat expansion; founder effect; protein expression; ATXN7; Medical genetics; Medicinsk genetik;

    Sammanfattning : Spinocerebellar ataxia type 7 (SCA7) is a hereditary neurodegenerative disorder affecting the cerebellum, pons and retina. SCA7 patients present with gait ataxia and visual impairment as the main symptoms. LÄS MER