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Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases

9 Feb 2021

Abstract excerpt

BACKGROUND: The elucidation of pathomechanisms leading to the manifestation of rare (genetically caused) neurological diseases including neuromuscular diseases (NMD) represents an important step toward the understanding of the genesis of the respective disease and might help to define starting points for (new) therapeutic intervention concepts. However, these "discovery studies" are often limited by the...

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PMID: 33563298
DOI: 10.1186/s13023-020-01669-1

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