Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. (Record no. 15753047)

MARC details
000 -LEADER
fixed length control field 01881 a2200577 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515000139.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200601s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1526-632X
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1212/01.wnl.0000178224.81169.c2
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 Maciel, P
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20060123
245 00 - TITLE STATEMENT
Title Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Neurology
Date of publication, distribution, etc. Aug 2005
300 ## - PHYSICAL DESCRIPTION
Extent 603-5 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; 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 Age of Onset
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ataxia
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Atrophy
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Basal Ganglia Diseases
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cerebellum
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cerebral Cortex
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cognition Disorders
General subdivision diagnosis
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 Ferritins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Testing
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Globus Pallidus
General subdivision metabolism
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 Iron Metabolism Disorders
General subdivision diagnosis
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 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
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neurocognitive Disorders
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neurodegenerative Diseases
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Parkinsonian Disorders
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cruz, V T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Constante, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Iniesta, I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Costa, M C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gallati, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sousa, N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sequeiros, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Coutinho, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Santos, M M
773 0# - HOST ITEM ENTRY
Title Neurology
Related parts vol. 65
-- no. 4
-- p. 603-5
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1212/01.wnl.0000178224.81169.c2">https://doi.org/10.1212/01.wnl.0000178224.81169.c2</a>
Public note Available from publisher's website

No items available.