Assessment of Target Engagement in a First‐in‐Human Trial with Sinbaglustat, an Iminosugar to Treat Lysosomal Storage Disorders

por Gehin, Martine, Melchior, Meggane, Welford, Richard W.D., Sidharta, Patricia N., Dingemanse, Jasper
Publicado 2020

Novel high–throughput myofibroblast assays identify agonists with therapeutic potential in pulmonary fibrosis that act via EP(2) and EP(4) receptors

por Sieber, Patrick, Schäfer, Anny, Lieberherr, Raphael, Le Goff, François, Stritt, Manuel, Welford, Richard W. D., Gatfield, John, Peter, Oliver, Nayler, Oliver, Lüthi, Urs
Publicado 2018

Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study

por Welford, Richard W. D., Garzotti, Marco, Marques Lourenço, Charles, Mengel, Eugen, Marquardt, Thorsten, Reunert, Janine, Amraoui, Yasmina, Kolb, Stefan A., Morand, Olivier, Groenen, Peter
Publicado 2014

Serotonin biosynthesis as a predictive marker of serotonin pharmacodynamics and disease-induced dysregulation

por Welford, Richard W. D., Vercauteren, Magali, Trébaul, Annette, Cattaneo, Christophe, Eckert, Doriane, Garzotti, Marco, Sieber, Patrick, Segrestaa, Jérôme, Studer, Rolf, Groenen, Peter M. A., Nayler, Oliver
Publicado 2016

Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients

por Welford, Richard W.D., Farine, Herve, Steiner, Michel, Garzotti, Marco, Dobrenis, Kostantin, Sievers, Claudia, Strasser, Daniel S., Amraoui, Yasmina, Groenen, Peter M.A., Giugliani, Roberto, Mengel, Eugen
Publicado 2022

Genetic screening for Niemann–Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

por Bauer, Peter, Balding, David J., Klünemann, Hans H., Linden, David E. J., Ory, Daniel S., Pineda, Mercè, Priller, Josef, Sedel, Frederic, Muller, Audrey, Chadha-Boreham, Harbajan, Welford, Richard W. D., Strasser, Daniel S., Patterson, Marc C.
Publicado 2013