title: On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies.
authors.affiliation: Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Hannes
authors.initials: H
authors.lastname: Lohi
authors.forename: Elayne M
authors.initials: EM
authors.lastname: Chan
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: Berge A
authors.initials: BA
authors.lastname: Minassian
mesh_terms: 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
chemical_list: D002352:Carrier Proteins; D010750:Phosphoproteins; D016601:RNA-Binding Proteins; D044767:Ubiquitin-Protein Ligases; D000097796:Nucleolin; C426067:NFU1 protein, human; C478960:NHLRC1 protein, human