Publication
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH
Denisa Hathazi, Dan Cox, Adele D'Amico, Giorgio Tasca, Richard Charlton, Robert-Yves Carlier, Jennifer Baumann, Laxmikanth Kollipara, René P Zahedi, Ingo Feldmann, Jean-Francois Deleuze, Annalaura Torella, Ronald Cohn, Emily Robinson, Francesco Ricci, Heinz Jungbluth, Fabiana Fattori, Anne Boland, Emily O’Connor, Rita Horvath, Rita Barresi, Hanns Lochmüller, Andoni Urtizberea, Marie-Line Jacquemont, Isabelle Nelson, Laura Swan, Gisèle Bonne, Andreas Roos
Brain, April 2021, Oxford University Press (OUP)
DOI: 10.1093/brain/awab133