A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature. (Record no. 19566221)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01757 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515211107.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201111s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1432-0533 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00401-010-0656-3 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Jansen, Casper |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20111114 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Acta neuropathologica |
| Date of publication, distribution, etc. | Jan 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 59-68 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Review |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Repeat Expansion |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gerstmann-Straussler-Scheinker Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutagenesis, Insertional |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Netherlands |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oligopeptides |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prion Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prions |
| General subdivision | chemistry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Voet, Willem |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Head, Mark W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parchi, Piero |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yull, Helen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verrips, Aad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wesseling, Pieter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meulstee, Jan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baas, Frank |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Gool, Willem A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ironside, James W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rozemuller, Annemieke J M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Acta neuropathologica |
| Related parts | vol. 121 |
| -- | no. 1 |
| -- | p. 59-68 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00401-010-0656-3">https://doi.org/10.1007/s00401-010-0656-3</a> |
| Public note | Available from publisher's website |
No items available.