A case report of genetic prion disease with two different PRNP variants-Reference-Cited by-同舟云学术

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A case report of genetic prion disease with two different PRNP variants

Published:2020-01-17 Issue:3 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Piazza Megan¹^ORCID,Prior Thomas W.¹,Khalsa Prabhjot S.²³⁴,Appleby Brian⁵

Affiliation:

1. Center for Human Genetics Laboratory Case Western Reserve University/University Hospitals Cleveland Medical Center Cleveland OH USA

2. Fremont Neurology Medical Associates Fremont CA USA

3. Washington Hospital Healthcare System Fremont CA USA

4. University of California Davis Davis CA USA

5. National Prion Disease Pathology Surveillance Center Case Western Reserve University Cleveland OH USA

Funder

Centers for Disease Control and Prevention

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1134

Reference36 articles.

1. A Practical Primer on Prion Pathology

2. Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases

3. Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease

4. Two-octapeptide repeat deletion of prion protein associated with rapidly progressive dementia

5. PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit

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2. Contributions of rare and common variation to early-onset and atypical dementia risk;Molecular Case Studies;2023-06

3. Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia;Clinical Genetics;2023-05-06

4. Gentherapien bei den Motoneuronerkrankungen ALS und SMA;Fortschritte der Neurologie · Psychiatrie;2023-02-23

5. Contributions of rare and common variation to early-onset and atypical dementia risk;2023-02-08

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