Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant

We describe the ninth variant of neuronal ceroid lipofuscinosis (NCL) or Batten disease, due to defects in a putative new gene, CLN9. We therefore refer to the new variant as CLN9‐deficient. Two Serbian sisters and two German brothers are described. Their clinical history is characteristic for juven...

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Veröffentlicht in:Annals of neurology 2004-09, Vol.56 (3), p.342-350
Hauptverfasser: Schulz, Angela, Dhar, Sumeer, Rylova, Svetlana, Dbaibo, Ghassan, Alroy, Joseph, Hagel, Christian, Artacho, Isabelo, Kohlschütter, Alfried, Lin, Simon, Boustany, Rose-Mary
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