Sökning: "Julien Ochala"

Hittade 1 avhandling innehållade orden Julien Ochala.

  1. 1. Cellular and Molecular Mechanisms Underlying Congenital Myopathy-related Weakness

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Johan Lindqvist; Julien Ochala; Anders Arner; [2014]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; skeletal muscle; skeletal muscle contraction; atrophy; nemaline myopathy; myofibrillar myopathy; myosin; actin;

    Sammanfattning : Congenital myopathies are a rare and heterogeneous group of diseases. They are primarily characterised by skeletal muscle weakness and disease-specific pathological features. They harshly limit ordinary life and in severe cases, these myopathies are associated with early death of the affected individuals. LÄS MER