A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. (Record no. 17708650)

MARC details
000 -LEADER
fixed length control field 02296 a2200721 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515104224.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200804s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1098-1004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/humu.20682
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 Arnoldi, Alessia
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20080416
245 00 - TITLE STATEMENT
Title A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. Apr 2008
300 ## - PHYSICAL DESCRIPTION
Extent 522-31 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 ATPases Associated with Diverse Cellular Activities
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 Base Sequence
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 Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Codon, Nonsense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cohort Studies
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 DNA, Complementary
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Electron Transport Complex I
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 Fibroblasts
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Recessive
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Haplotypes
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 Italy
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 Metalloendopeptidases
General subdivision genetics
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 Mitochondria, Muscle
General subdivision metabolism
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 Point Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
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 Tonelli, Alessandra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Crippa, Francesca
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Villani, Gaetano
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pacelli, Consiglia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sironi, Manuela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pozzoli, Uberto
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name D'Angelo, Maria Grazia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meola, Giovanni
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Martinuzzi, Andrea
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Crimella, Claudia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Redaelli, Francesca
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Panzeri, Chris
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Renieri, Alessandra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Comi, Giacomo Pietro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Turconi, Anna Carla
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bresolin, Nereo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bassi, Maria Teresa
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 29
-- no. 4
-- p. 522-31
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.20682">https://doi.org/10.1002/humu.20682</a>
Public note Available from publisher's website

No items available.