Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis

High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions

(2017) Alessia Franceschini et al.   Scientific Reports

Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy

(2016) Jamie C. Fong et al.   JOURNAL OF ALZHEIMERS DISEASE

A new prion disease: relationship with central and peripheral amyloidoses

(2015) Simon Mead et al.   Nature Reviews Neurology

A nonsense mutation in PRNP associated with clinical Alzheimer's disease

(2014) Rita Guerreiro et al.   NEUROBIOLOGY OF AGING

Systemic Amyloidoses

(2013) Luis M. Blancas-Mejía et al.   Annual Review of Biochemistry

A novel familial prion disease causing pan-autonomic-sensory neuropathy and cognitive impairment

(2013) K. Matsuzono et al.   EUROPEAN JOURNAL OF NEUROLOGY

A Novel Prion Disease Associated with Diarrhea and Autonomic Neuropathy

(2013) Simon Mead et al.   NEW ENGLAND JOURNAL OF MEDICINE

Peripheral Autonomic Neuropathy: Diagnostic Contribution of Skin Biopsy

(2012) Vincenzo Donadio et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Familial prion disease with alzheimer disease-like tau pathology and clinical phenotype

(2011) Suman Jayadev et al.   ANNALS OF NEUROLOGY

Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP

(2009) Casper Jansen et al.   ACTA NEUROPATHOLOGICA

Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies

(2009) Tamas Revesz et al.   ACTA NEUROPATHOLOGICA