Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. (Record no. 15000154)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01837 a2200541 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514195313.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200409s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1590-1874 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s10072-004-0246-z |
| 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 | Mariotti, C |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20040910 |
| 245 00 - TITLE STATEMENT | |
| Title | Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology |
| Date of publication, distribution, etc. | Jul 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 130-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 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 | Ataxia |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| 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 | Follow-Up Studies |
| 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 | Middle Aged |
| 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 | Nervous System Diseases |
| General subdivision | diagnosis |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vitamin E |
| General subdivision | therapeutic use |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vitamin E Deficiency |
| General subdivision | diagnosis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gellera, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rimoldi, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mineri, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Uziel, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zorzi, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pareyson, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Piccolo, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gambi, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Piacentini, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Squitieri, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Capra, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Castellotti, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Donato, S |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology |
| Related parts | vol. 25 |
| -- | no. 3 |
| -- | p. 130-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10072-004-0246-z">https://doi.org/10.1007/s10072-004-0246-z</a> |
| Public note | Available from publisher's website |
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