Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. (Record no. 16880795)

MARC details
000 -LEADER
fixed length control field 02273 a2200757 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515060344.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200706s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1061-4036
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/ng1980
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 Stevanin, Giovanni
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20070620
245 00 - TITLE STATEMENT
Title Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Nature genetics
Date of publication, distribution, etc. Mar 2007
300 ## - PHYSICAL DESCRIPTION
Extent 366-72 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adolescent
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 Animals
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 COS Cells
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 Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chlorocebus aethiops
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 15
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Corpus Callosum
General subdivision pathology
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 Genetic Linkage
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genotype
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 Lod Score
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Molecular Sequence Data
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
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 Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Rats
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Rats, Sprague-Dawley
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Spastic Paraplegia, Hereditary
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Santorelli, Filippo M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Azzedine, Hamid
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Coutinho, Paula
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chomilier, Jacques
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Denora, Paola S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Martin, Elodie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ouvrard-Hernandez, Anne-Marie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tessa, Alessandra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bouslam, Naïma
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lossos, Alexander
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Charles, Perrine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Loureiro, José L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Elleuch, Nizar
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Confavreux, Christian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cruz, Vítor T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ruberg, Merle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leguern, Eric
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grid, Djamel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tazir, Meriem
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fontaine, Bertrand
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Filla, Alessandro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bertini, Enrico
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Durr, Alexandra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brice, Alexis
773 0# - HOST ITEM ENTRY
Title Nature genetics
Related parts vol. 39
-- no. 3
-- p. 366-72
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/ng1980">https://doi.org/10.1038/ng1980</a>
Public note Available from publisher's website

No items available.