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Author/Creator Muir, Alison M.

1. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. (6th December 2020)

Authors:
Schneider, Amy L.; Myers, Candace T.; Muir, Alison M.; Calvert, Sophie; Basinger, Alice; Perry, M. Scott; Rodan, Lance; Helbig, Katherine L.; Chambers, Chelsea; Gorman, Kathleen M.; King, Mary D.; Donkervoort, Sandra; Soldatos, Ariane; Bönnemann, Carsten G.; Spataro, Nino; Gabau, Elisabeth; Arell...
Journal:
Epilepsia
Issue:
Volume 62:issue 1(2021)
Page Start:
e13
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Issue 2 (13th July 2021)

Authors:
Spinelli, Egidio; Christensen, Kyle R.; Bryant, Emily; Schneider, Amy; Rakotomamonjy, Jennifer; Muir, Alison M.; Giannelli, Jessica; Littlejohn, Rebecca O.; Roeder, Elizabeth R.; Schmidt, Berkley; Wilson, William G.; Marco, Elysa J.; Iwama, Kazuhiro; Kumada, Satoko; Pisano, Tiziana; Barba, Carmen...
Journal:
Annals of neurology
Issue:
Volume 90:Issue 2(2021)
Page Start:
274
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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