An autosomal dominant neurological disorder caused by de novo variants in < /i>FAR1< //i> resulting in uncontrolled synthesis of ether lipids (vol 23, pg 740, 2021)

Ferdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; Ijlst, Lodewijk; Mooijer, Petra M; Ruiter, Jos PN; van Lint, Alida EM; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Sacoto, Maria J Guillen; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L; Sell, Susan L; Nowak, Catherine B; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A; Macnamara, Ellen F; Wolfe, Lynne; Waisfisz, Quinten; Zwijnenburg, Petra JG; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C; van Kampen, Antoine HC; Wanders, Ronald JA; Waterham, Hans R; Cassiman, David; Vaz, Frederic M

doi:10.1038/s41436-021-01189-8

An autosomal dominant neurological disorder caused by de novo variants in < /i>FAR1< //i> resulting in uncontrolled synthesis of ether lipids (vol 23, pg 740, 2021)

Author:

Ferdinandusse, Sacha

McWalter, Kirsty ; te Brinke, Heleen ; Ijlst, Lodewijk ; Mooijer, Petra M ; Ruiter, Jos PN ; van Lint, Alida EM ; Pras-Raves, Mia ; Wever, Eric ; Millan, Francisca ; Sacoto, Maria J Guillen ; Begtrup, Amber ; Tarnopolsky, Mark ; Brady, Lauren ; Ladda, Roger L ; Sell, Susan L ; Nowak, Catherine B ; Douglas, Jessica ; Tian, Cuixia ; Ulm, Elizabeth ; Perlman, Seth ; Drack, Arlene V ; Chong, Karen ; Martin, Nicole ; Brault, Jennifer ; Brokamp, Elly ; Toro, Camilo ; Gahl, William A ; Macnamara, Ellen F ; Wolfe, Lynne ; Waisfisz, Quinten ; Zwijnenburg, Petra JG ; Ziegler, Alban ; Barth, Magalie ; Smith, Rosemarie ; Ellingwood, Sara ; Gaebler-Spira, Deborah ; Bakhtiari, Somayeh ; Kruer, Michael C ; van Kampen, Antoine HC ; Wanders, Ronald JA ; Waterham, Hans R ; Cassiman, David ; Vaz, Frederic M

Keywords:

Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Undiagnosed Diseases Network, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics