Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype

Por Cooper-Knock, Johnathan, Robins, Henry, Niedermoser, Isabell, Wyles, Matthew, Heath, Paul R., Higginbottom, Adrian, Walsh, Theresa, Kazoka, Mbombe, Ince, Paul G., Hautbergue, Guillaume M., McDermott, Christopher J., Kirby, Janine, Shaw, Pamela J.
Publicado no Front Mol Neurosci (2017)

Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis

Por Cooper-Knock, Johnathan, Moll, Tobias, Ramesh, Tennore, Castelli, Lydia, Beer, Alexander, Robins, Henry, Fox, Ian, Niedermoser, Isabell, Van Damme, Philip, Moisse, Matthieu, Robberecht, Wim, Hardiman, Orla, Panades, Monica P., Assialioui, Abdelilah, Mora, Jesus S., Basak, A. Nazli, Morrison, Karen E., Shaw, Christopher E., Al-Chalabi, Ammar, Landers, John E., Wyles, Matthew, Heath, Paul R., Higginbottom, Adrian, Walsh, Theresa, Kazoka, Mbombe, McDermott, Christopher J., Hautbergue, Guillaume M., Kirby, Janine, Shaw, Pamela J.
Publicado no Cell Rep (2019)