SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. (Record no. 27348534)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01662 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517162940.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201808s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1590-3478 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s10072-017-3049-8 |
| 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 | Yucesan, E |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180807 |
| 245 00 - TITLE STATEMENT | |
| Title | SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. |
| 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. | Dec 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2203-2207 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 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 | Cerebellar Ataxia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytoskeletal Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Diagnosis, Differential |
| 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 | 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 | Nerve Tissue Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nuclear Proteins |
| General subdivision | genetics |
| 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 | Siblings |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Turkey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ugur Iseri, Sibel A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bilgic, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gormez, Z |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bakir Gungor, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sarac, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ozdemir, O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sagiroglu, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gurvit, H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hanagasi, H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ozbek, U |
| 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. 38 |
| -- | no. 12 |
| -- | p. 2203-2207 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10072-017-3049-8">https://doi.org/10.1007/s10072-017-3049-8</a> |
| Public note | Available from publisher's website |
No items available.