Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Acute and Progressive Cognitive Decline in a 38-Year-Old Man
Neurol 105: e213871, Wu,L.,et al, 2025
Sporadic Creutzfeldt-Jakob Disease in a Very Young Person
Neurol 97:813-816,801, Appleby, B.S.,et al, 2021
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Clin Features of Early-Onset Alzheimer Disease in Large Kindred with an E280A Presenilin-1 Mutation
JAMA 277:793-799, Lopera,F.,et al, 1997
Early-Onset Dementia & Extrapyramidal Disease:Clinicopath Variant of Gerstmann-Straussler-Scheinker or Alzheimer's Disease?
JNNP 53:932-934, Hart,J.Jr.&Gordon,B., 1990