An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant. (Record no. 18871778)

MARC details
000 -LEADER
fixed length control field 01570 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515171748.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200908s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1432-1459
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s00415-009-0147-4
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 Dotti, Maria Teresa
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20090820
245 00 - TITLE STATEMENT
Title An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of neurology
Date of publication, distribution, etc. Apr 2009
300 ## - PHYSICAL DESCRIPTION
Extent 679-82 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Letter; Research Support, N.I.H., Extramural
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alexander Disease
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Brain
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Line, Tumor
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
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 Glial Fibrillary Acidic Protein
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 Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Magnetic Resonance Imaging
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Multimerization
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Buccoliero, Rosaria
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lee, Andrew
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gorospe, J Raphael
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Flint, Daniel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Galluzzi, Paolo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bianchi, Silvia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name D'Eramo, Camilla
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Naidu, Sakkubai
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Federico, Antonio
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brenner, Michael
773 0# - HOST ITEM ENTRY
Title Journal of neurology
Related parts vol. 256
-- no. 4
-- p. 679-82
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s00415-009-0147-4">https://doi.org/10.1007/s00415-009-0147-4</a>
Public note Available from publisher's website

No items available.