On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies.
Lohi
Hannes
H
Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Chan
Elayne M
EM
Scherer
Stephen W
SW
Minassian
Berge A
BA
D000818:Animals; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism; D004195:Disease Models, Animal; D006801:Humans; D020192:Lafora Disease / Q000235:genetics / Q000378:metabolism; D020191:Myoclonic Epilepsies, Progressive / Q000145:classification* / Q000235:genetics / Q000378:metabolism*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics / Q000378:metabolism; D010750:Phosphoproteins / Q000145:classification / Q000235:genetics / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000145:classification / Q000235:genetics / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases; D020194:Unverricht-Lundborg Syndrome / Q000235:genetics / Q000378:metabolism; D000097796:Nucleolin
D002352:Carrier Proteins; D010750:Phosphoproteins; D016601:RNA-Binding Proteins; D044767:Ubiquitin-Protein Ligases; D000097796:Nucleolin; C426067:NFU1 protein, human; C478960:NHLRC1 protein, human