Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1

por Perez-Valencia, Juan A., Gallon, Richard, Chen, Yunjia, Koch, Jakob, Keller, Markus, Oberhuber, Klaus, Gomes, Alicia, Zschocke, Johannes, Burn, John, Jackson, Michael S., Santibanez-Koref, Mauro, Messiaen, Ludwine, Wimmer, Katharina
Publicado 2020

Succinate Anaplerosis Has an Onco-Driving Potential in Prostate Cancer Cells

por Sant’Anna-Silva, Ana Carolina B., Perez-Valencia, Juan A., Sciacovelli, Marco, Lalou, Claude, Sarlak, Saharnaz, Tronci, Laura, Nikitopoulou, Efterpi, Meszaros, Andras T., Frezza, Christian, Rossignol, Rodrigue, Gnaiger, Erich, Klocker, Helmut
Publicado 2021

X‐linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat

por Kopke, Matthew A., Diane Shelton, G., Lyons, Leslie A., Wall, Meredith J., Pemberton, Sarah, Gedye, Kristene R., Owen, Rebecca, Guo, Ling T., Buckley, Reuben M., Valencia, Juan A., Jones, Boyd R.
Publicado 2022