Calculating variant penetrance from family history of disease and average family size in population-scale data

por Spargo, Thomas P., Opie-Martin, Sarah, Bowles, Harry, Lewis, Cathryn M., Iacoangeli, Alfredo, Al-Chalabi, Ammar
Publicado 2022

GEOexplorer: a webserver for gene expression analysis and visualisation

por Hunt, Guy P, Grassi, Luigi, Henkin, Rafael, Smeraldi, Fabrizio, Spargo, Thomas P, Kabiljo, Renata, Koks, Sulev, Ibrahim, Zina, Dobson, Richard J B, Al-Chalabi, Ammar, Barnes, Michael R, Iacoangeli, Alfredo
Publicado 2022

A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene CFAP410 correlates with differential isoform expression

por Marshall, Jack N. G., Fröhlich, Alexander, Li, Li, Pfaff, Abigail L., Middlehurst, Ben, Spargo, Thomas P., Iacoangeli, Alfredo, Lang, Bing, Al-Chalabi, Ammar, Koks, Sulev, Bubb, Vivien J., Quinn, John P.
Publicado 2022

Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression

por Kalia, Munishikha, Miotto, Mattia, Ness, Deborah, Opie-Martin, Sarah, Spargo, Thomas P., Di Rienzo, Lorenzo, Biagini, Tommaso, Petrizzelli, Francesco, Al Khleifat, Ahmad, Kabiljo, Renata, Mazza, Tommaso, Ruocco, Giancarlo, Milanetti, Edoardo, Dobson, Richard JB, Al-Chalabi, Ammar, Iacoangeli, Alfredo
Publicado 2023

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

por Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, Shaw, Christopher E.
Publicado 2022