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Neurology|June 30, 2012
A candidate gene for autoimmune myasthenia gravisGuida Landouré, Melanie A Knight, Horia Stanescu, et al.Nature|June 15, 2007
HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPSUdai Bhan Pandey, Zhiping Nie, Yakup Batlevi, et al.Plos Genetics|June 26, 2007
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humansJoyce van de Leemput, Jayanth Chandran, Melanie A Knight, et al.American Journal of Human Genetics|April 16, 2019
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain MalformationLong Guo, Débora Romeo Bertola, Asako Takanohashi, et al.JAMA Neurology|April 17, 2013
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodiesMichael A Nalls, Raquel Duran, Grisel Lopez, et al.Pageof 2