TY  - GEN
AU  - Takao,M
AU  - Benson,M D
AU  - Murrell,J R
AU  - Yazaki,M
AU  - Piccardo,P
AU  - Unverzagt,F W
AU  - Davis,R L
AU  - Holohan,P D
AU  - Lawrence,D A
AU  - Richardson,R
AU  - Farlow,M R
AU  - Ghetti,B
TI  - Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy
SN  - 0022-3069
PY  - 2001///0111
KW  - Adult
KW  - Central Nervous System
KW  - metabolism
KW  - Epilepsies, Myoclonic
KW  - genetics
KW  - Female
KW  - Humans
KW  - Male
KW  - Microscopy, Electron
KW  - Mutation
KW  - physiology
KW  - Neurons
KW  - Neuropeptides
KW  - Pedigree
KW  - Serpins
KW  - Neuroserpin
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1093/jnen/59.12.1070
ER  -