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researcher /
Simone Spuler
Simone Spuler
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Disciplines:
Biochemistry
Biology
Physiology and physiopathology
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Directed Thesis:
Characterization of emerin LEM-domain missense mutations present in patients with exclusive atrial cardiac defects
Exon skipping as a therapeutic strategy in dysferlinopathy
Mechanisms of non-centrosomal MTOC formation at the nucleus in muscle cells
Emery-Dreifuss muscular dystrophy-associated FHL1 gene mutations : study of molecular and functional consequences in skeletal muscle
RNA-based therapies for dysferlinopathies