HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. (Record no. 16562603)

MARC details
000 -LEADER
fixed length control field 02259 a2200661 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515041809.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200611s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0364-5134
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/ana.20963
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 Mukherjee, Odity
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20061114
245 00 - TITLE STATEMENT
Title HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Annals of neurology
Date of publication, distribution, etc. Sep 2006
300 ## - PHYSICAL DESCRIPTION
Extent 314-22 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aged, 80 and over
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aspartic Acid
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 17
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Dementia
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Family Health
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 Genetic Predisposition to Disease
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 Immunohistochemistry
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Inclusion Bodies
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Intercellular Signaling Peptides and Proteins
General subdivision genetics
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 Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neuropsychological Tests
General subdivision statistics & numerical data
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ubiquitin
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Valine
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element tau Proteins
General subdivision metabolism
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pastor, Pau
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cairns, Nigel J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chakraverty, Sumi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kauwe, John S K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shears, Shantia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Behrens, Maria I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Budde, John
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hinrichs, Anthony L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Norton, Joanne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Levitch, Denise
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Taylor-Reinwald, Lisa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gitcho, Michael
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tu, P-H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tenenholz Grinberg, Lea
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Liscic, Rajka M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Armendariz, Javier
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Morris, John C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goate, Alison M
773 0# - HOST ITEM ENTRY
Title Annals of neurology
Related parts vol. 60
-- no. 3
-- p. 314-22
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/ana.20963">https://doi.org/10.1002/ana.20963</a>
Public note Available from publisher's website

No items available.