A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. (Record no. 20021628)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01973 a2200565 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515233937.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201504s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-330X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jnnp.2008.163402 |
| 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 | Romaniello, Romina |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150422 |
| 245 00 - TITLE STATEMENT | |
| Title | A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of neurology, neurosurgery, and psychiatry |
| Date of publication, distribution, etc. | Aug 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 840-3 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 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 | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Calcium Channels |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebral Cortex |
| General subdivision | pathology |
| 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 | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electrodiagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electroencephalography |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Evoked Potentials |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 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 | Fourth Ventricle |
| General subdivision | pathology |
| 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 | Migraine with Aura |
| General subdivision | etiology |
| 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 |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nervous System Diseases |
| General subdivision | genetics |
| 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 | etiology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zucca, Claudio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tonelli, Alessandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonato, Sara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baschirotto, Cinzia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zanotta, Nicoletta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Epifanio, Roberta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Righini, Andrea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bresolin, Nereo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bassi, Maria T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Borgatti, Renato |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of neurology, neurosurgery, and psychiatry |
| Related parts | vol. 81 |
| -- | no. 8 |
| -- | p. 840-3 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jnnp.2008.163402">https://doi.org/10.1136/jnnp.2008.163402</a> |
| Public note | Available from publisher's website |
No items available.