ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype. (Record no. 29129319)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01706 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518012416.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201905s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1432-1459 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00415-018-9141-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 | Nanetti, Lorenzo |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190528 |
| 245 00 - TITLE STATEMENT | |
| Title | ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of neurology |
| Date of publication, distribution, etc. | Feb 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 378-385 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Observational Study |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Anoctamins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cognitive Dysfunction |
| General subdivision | physiopathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Disease Progression |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Evoked Potentials, Somatosensory |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Executive Function |
| General subdivision | physiology |
| 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 | Genes, Recessive |
| 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 | 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spinocerebellar Ataxias |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sarto, Elisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Castaldo, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Magri, Stefania |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mongelli, Alessia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rossi Sebastiano, Davide |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Canafoglia, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grisoli, Marina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Malaguti, Chiara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rivieri, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | D'Amico, Maria Chiara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Bella, Daniela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Franceschetti, Silvana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mariotti, Caterina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taroni, Franco |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of neurology |
| Related parts | vol. 266 |
| -- | no. 2 |
| -- | p. 378-385 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00415-018-9141-z">https://doi.org/10.1007/s00415-018-9141-z</a> |
| Public note | Available from publisher's website |
No items available.