Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease.

  title={Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease.},
  author={Anne-H{\'e}l{\`e}ne Lebrun and Parisa Moll-Khosrawi and Sandra Pohl and Georgia Makrypidi and Stephan Storch and Dirk Kilian and Thomas Streichert and Benjamin D Otto and Sara E Mole and Kurt Ullrich and Susan L Cotman and A Kohlsch{\"u}tter and Thomas Braulke and Angela Schulz},
  journal={Molecular medicine},
  volume={17 11-12},
Mutations in the CLN3 gene lead to juvenile neuronal ceroid lipofuscinosis, a pediatric neurodegenerative disorder characterized by visual loss, epilepsy and psychomotor deterioration. Although most CLN3 patients carry the same 1-kb deletion in the CLN3 gene, their disease phenotype can be variable. The aims of this study were to (i) study the clinical phenotype in CLN3 patients with identical genotype, (ii) identify genes that are dysregulated in CLN3 disease regardless of the clinical course… CONTINUE READING
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