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Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 04/2012, Volume 83, Issue 4, pp. 358 - 364
Journal Article
Cold Spring Harbor Perspectives in Biology, ISSN 1943-0264, 05/2018, Volume 10, Issue 5
Genetic prion diseases (gPrDs) caused by mutations in the prion protein gene (PRNF, have been classified as genetic Creutzfeldt-Jakob disease,... 
FATAL FAMILIAL INSOMNIA | GERSTMANN-STRAUSSLER-SCHEINKER | SPONGIFORM ENCEPHALOPATHIES | R208H MUTATION | OCTAPEPTIDE REPEAT INSERTIONS | PRNP H187R MUTATION | PHENOTYPIC VARIABILITY | EARLY-ONSET | CREUTZFELDT-JAKOB-DISEASE | PROTEIN GENE | CELL BIOLOGY
Journal Article
2018, ISBN 9780444640765, Volume 148
Genetic prion diseases (gPrDs) are caused by autosomal-dominant mutations in the prion protein gene ( ). Although the first mutations identified, and most... 
rapidly progressive dementia | nonsense mutation | octapeptide repeat insertion | CJD | Creutzfeldt–Jakob disease | prion protein gene
Book Chapter
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 09/2013, Volume 84, Issue 9, pp. 956 - 962
Journal Article
Alzheimer's Research & Therapy, ISSN 1758-9193, 10/2012, Volume 4, Issue 38
Earlier reports of chromosome 9p-linked frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS) kindreds observed psychosis as a prominent... 
Genetic variation | Development and progression | Amyotrophic lateral sclerosis | Genetic aspects | Open reading frames | Properties | Frontotemporal dementia | Health aspects
Journal Article
Journal Article
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, ISSN 1552-5260, 2015, Volume 11, Issue 7, pp. P491 - P491
Journal Article
Cold Spring Harbor Perspectives in Biology, 05/2018, Volume 10, Issue 5
Genetic prion diseases (gPrDs) caused by mutations in the prion protein gene (PRNP) have been classified as genetic Creutzfeldt–Jakob disease,... 
Phenotypes | Basal ganglia | Gastrointestinal tract diseases | Mental disorders | Disorders | Central nervous system diseases | Neuropathy | Diseases | Proteins | Sleep disorders | Insomnia | Mutation | Prion protein | Movement disorders
Journal Article
Alzheimer's Research and Therapy, ISSN 1758-9193, 2012, Volume 4, Issue 5, pp. 38 - 38
Earlier reports of chromosome 9p-linked frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS) kindreds observed psychosis as a prominent... 
HEXANUCLEOTIDE REPEAT EXPANSION | NEURODEGENERATIVE DISEASE | VARIABILITY | ALS | PHENOTYPE | CLINICAL CHARACTERISTICS | SCHIZOPHRENIA | SYMPTOMS | AMYOTROPHIC-LATERAL-SCLEROSIS | C9ORF72 MUTATIONS | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article
Journal of Alzheimer's Disease, ISSN 1387-2877, 08/2016, Volume 54, Issue 1, pp. 169 - 174
Journal Article