ListarNeurociencias.artículos por tema "Neurodegenerative Diseases"

Mostrando ítems 1-1 de 1

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

Schottlaender, Lucía V.; Abeti, Rosella; Jaunmuktane, Zane; Macmillan, Carol; Chelban, Viorica; O'Callaghan, Benjamin; McKinley, John; Maroofian, Reza; Efthymiou, Stephanie; Athanasiou Fragkouli, Alkyoni; Forbes, Raeburn; Soutar, Marc P.M.; Livingston, John H.; Kalmar, Bernardett; Swayne, Orlando; Hotton, Gary; SYNAPS Study Group; Pittman, Alan; Launchbury, Francesca; Mendes de Oliveira, João Ricardo; de Grandis, Maria; Richard Loendt, Angela; Althonayan, Juri; McDonnell, Gavin; Carr, Aisling; Khan, Suliman; Beetz, Christian; Bisgin, Atil; Bozdogan, Sevcan Tug; Begtrup, Amber; Torti, Erin; Greensmith, Linda; Giunti, Paola; Morrison, Patrick J.; Brandner, Sebastian; Aurrand-Lions, Michel; Houlden, Henry (Cell Press, 2020-02-05)

Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To ...

Buscar en DSpace