Publications:

Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.

Acta Neuropathologica

Baiardi, Simone S; Rossi, Marcello M; Mammana, Angela A; Appleby, Brian S BS; Barria, Marcelo A MA; Calì, Ignazio I; Gambetti, Pierluigi P; Gelpi, Ellen E; Giese, Armin A; Ghetti, Bernardino B; Herms, Jochen J; Ladogana, Anna A; Mikol, Jacqueline J; Pal, Suvankar S; Ritchie, Diane L DL; Ruf, Viktoria V; Windl, Otto O; Capellari, Sabina S; Parchi, Piero P

Publication Date: 2021-10

Variant appearance in text: PRNP: E211D

PubMed Link: 34324063

Variant Present in the following documents:

• 401_2021_2350_MOESM1_ESM.pdf

View BVdb publication page

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: PRNP: E211D

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

Analysis of 12 Chinese Patients with Proline-to-Leucine Mutation at Codon 102-Associated Gerstmann-Sträussler-Scheinker Disease.

Journal Of Clinical Neurology (Seoul, Korea)

Wang, Jing J; Xiao, Kang K; Zhou, Wei W; Shi, Qi Q; Dong, Xiao Ping XP

Publication Date: 2019-04

Variant appearance in text: PRNP: E211D

PubMed Link: 30877692

Variant Present in the following documents:

• Main text
• jcn-15-184.pdf

View BVdb publication page

Recent advances in the histo-molecular pathology of human prion disease.

Brain Pathology (Zurich, Switzerland)

Baiardi, Simone S; Rossi, Marcello M; Capellari, Sabina S; Parchi, Piero P

Publication Date: 2019-03

Variant appearance in text: CJD: E211D

PubMed Link: 30588685

Variant Present in the following documents:

• Main text

View BVdb publication page

Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Takada, Leonel T LT; Kim, Mee-Ohk MO; Cleveland, Ross W RW; Wong, Katherine K; Forner, Sven A SA; Gala, Ignacio Illán II; Fong, Jamie C JC; Geschwind, Michael D MD

Publication Date: 2017-01

Variant appearance in text: PRNP: E211D

PubMed Link: 27943639

Variant Present in the following documents:

• Main text

View BVdb publication page