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Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy
- Source :
- European journal of neurology (Online) 24 (2017): e87–e88. doi:10.1111/ene.13447, info:cnr-pdr/source/autori:Mumoli L.; Labate A.; Gambardella A./titolo:Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy/doi:10.1111%2Fene.13447/rivista:European journal of neurology (Online)/anno:2017/pagina_da:e87/pagina_a:e88/intervallo_pagine:e87–e88/volume:24
- Publication Year :
- 2017
- Publisher :
- Blackwell Science., [Oxford], Regno Unito, 2017.
- Subjects :
- 0301 basic medicine
Pathology
medicine.medical_specialty
Gerstmann-Straussler-Scheinker Disease
business.industry
inherited prion disease
Progressive myoclonus epilepsy
medicine.disease
PRNP
03 medical and health sciences
030104 developmental biology
0302 clinical medicine
cerebellar atrophy
Neurology
Mutation (genetic algorithm)
Medicine
Prnp gene
Cerebellar atrophy
Neurology (clinical)
PRNP gene
business
progressive myoclonic epilepsies
030217 neurology & neurosurgery
Heterozygous mutation
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- European journal of neurology (Online) 24 (2017): e87–e88. doi:10.1111/ene.13447, info:cnr-pdr/source/autori:Mumoli L.; Labate A.; Gambardella A./titolo:Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy/doi:10.1111%2Fene.13447/rivista:European journal of neurology (Online)/anno:2017/pagina_da:e87/pagina_a:e88/intervallo_pagine:e87–e88/volume:24
- Accession number :
- edsair.doi.dedup.....4042dc0156fb545ea2f658bcd895bd8f
- Full Text :
- https://doi.org/10.1111/ene.13447