Joseph G. Gleeson, MD

Neuroscience University of California, San Diego, La Jolla, CA 
"Joseph Gleeson"
Mean distance: 17811 (cluster 37)
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Gkatza NA, Castro C, Harvey RF, et al. (2019) Cytosine-5 RNA methylation links protein synthesis to cell metabolism. Plos Biology. 17: e3000297
Friedman J, Smith DE, Issa MY, et al. (2019) Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nature Communications. 10: 707
Li H, Saucedo-Cuevas L, Yuan L, et al. (2019) Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors. Neuron
Mahmoud IG, Elmonem MA, Elkhateeb NM, et al. (2019) Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations. Clinical Genetics
Pant DC, Dorboz I, Schlüter A, et al. (2019) Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. The Journal of Clinical Investigation
Rad A, Altunoglu U, Miller R, et al. (2018) MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive erebellar, cular, cranioacial and enital features (COFG syndrome). Journal of Medical Genetics
Chai G, Gleeson JG. (2018) A newly discovered mechanism driving neuronal mutations in Alzheimer's disease. Nature. 563: 631-632
Shashi V, Magiera MM, Klein D, et al. (2018) Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. The Embo Journal
Ghosh SG, Becker K, Huang H, et al. (2018) Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American Journal of Human Genetics. 103: 826
Guemez-Gamboa A, Çağlayan AO, Stanley V, et al. (2018) Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome. Annals of Neurology
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